https://www.wikidoc.org/api.php?action=feedcontributions&user=Farima+Kahe&feedformat=atomwikidoc - User contributions [en]2024-03-28T08:16:03ZUser contributionsMediaWiki 1.40.0https://www.wikidoc.org/index.php?title=Asplenia_surgery&diff=1713515Asplenia surgery2021-09-10T05:11:00Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}}{{Kalpana Giri}}<br />
==Overview==<br />
The mainstay of [[treatment]] for asplenia is [[medical therapy]] and [[prevention]].<br />
<br />
==Surgery==<br />
The mainstay of [[treatment]] for asplenia is [[medical therapy]] and [[prevention]].<ref name="pmid11253134">{{cite journal| author=Waghorn DJ| title=Overwhelming infection in asplenic patients: current best practice preventive measures are not being followed. | journal=J Clin Pathol | year= 2001 | volume= 54 | issue= 3 | pages= 214-8 | pmid=11253134 | doi=10.1136/jcp.54.3.214 | pmc=1731383 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11253134 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Surgery]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_interventions&diff=1713514Asplenia interventions2021-09-10T05:10:17Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}}{{Kalpana Giri}}<br />
<br />
==Indications==<br />
<br />
The mainstay of treatment for TT is medical therapy.<br />
<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_other_diagnostic_studies&diff=1713513Asplenia other diagnostic studies2021-09-10T05:09:45Z<p>Farima Kahe: /* Other Diagnostic Studies */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}}{{Kalpana Giri}}<br />
<br />
==Overview==<br />
[[Blood]] and [[CSF]] [[cultures]] may be helpful in the diagnosis of asplenia.<br />
<br />
==Other Diagnostic Studies==<br />
[[Blood]] and [[CSF]] [[cultures]] may be helpful in the diagnosis of asplenia. Positive findings are:<ref name="pmid29254492">{{cite journal| author=Iijima S| title=Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review. | journal=BMC Infect Dis | year= 2017 | volume= 17 | issue= 1 | pages= 777 | pmid=29254492 | doi=10.1186/s12879-017-2896-5 | pmc=5735542 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29254492 }} </ref><ref name="pmid31703560">{{cite journal| author=Albrecht T, Poss K, Issaranggoon Na Ayuthaya S, Triden L, Schleiss KL, Schleiss MR| title=Case report of congenital asplenia presenting with Haemophilus influenzae type a (Hia) sepsis: an emerging pediatric infection in Minnesota. | journal=BMC Infect Dis | year= 2019 | volume= 19 | issue= 1 | pages= 947 | pmid=31703560 | doi=10.1186/s12879-019-4572-4 | pmc=6842177 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31703560 }} </ref><ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref><br />
<br />
*[[Streptococcus pneumoniae]]<br />
*[[Hemophilus influenzae]]<br />
*[[Neisseria meningitidis]]<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_other_imaging_findings&diff=1713512Asplenia other imaging findings2021-09-10T05:08:55Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}}{{Kalpana Giri}}<br />
==Overview==<br />
There are no other imaging findings associated with asplenia.<br />
<br />
==Other Imaging Findings==<br />
There are no other imaging findings associated with asplenia.<br />
<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Radiology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_MRI&diff=1713511Asplenia MRI2021-09-10T05:08:38Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}}{{Kalpana Giri}}<br />
==Overview==<br />
[[MR imaging]] may be helpful to define these [[structures]] in large patients or if overlying gas-filled bowel obscures the [[upper abdominal]] [[anatomy]].<br />
<br />
==MRI==<br />
*Patients with [[asplenia]] are at greater risk of [[sepsis]]. [[MR imaging]] may be helpful to define these [[structures]] in large patients or if overlying gas-filled bowel obscures the [[upper abdominal]] [[anatomy]].<ref name="pmid10464794">{{cite journal| author=Applegate KE, Goske MJ, Pierce G, Murphy D| title=Situs revisited: imaging of the heterotaxy syndrome. | journal=Radiographics | year= 1999 | volume= 19 | issue= 4 | pages= 837-52; discussion 853-4 | pmid=10464794 | doi=10.1148/radiographics.19.4.g99jl31837 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10464794 }} </ref><br />
*MRI may be helpful in patient with [[Sepsis]] with concomitant [[osteoarthritis]]. MRI may [[revealed]] [[joint effusion]] and [[myositis]] without evidence of [[osteomyelitis]].<ref name="pmid31703560">{{cite journal| author=Albrecht T, Poss K, Issaranggoon Na Ayuthaya S, Triden L, Schleiss KL, Schleiss MR| title=Case report of congenital asplenia presenting with Haemophilus influenzae type a (Hia) sepsis: an emerging pediatric infection in Minnesota. | journal=BMC Infect Dis | year= 2019 | volume= 19 | issue= 1 | pages= 947 | pmid=31703560 | doi=10.1186/s12879-019-4572-4 | pmc=6842177 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31703560 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Radiology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_CT_scan&diff=1713510Asplenia CT scan2021-09-10T05:08:24Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}}{{Kalpana Giri}}<br />
<br />
==Overview==<br />
In asplenic patients, [[CT scan]] may be helpful to define these [[structures]] in large patients or if overlying gas-filled bowel obscures the [[upper abdominal]] [[anatomy]].<br />
<br />
==CT scan==<br />
<br />
*Patients with [[asplenia]] are at greater risk of [[sepsis]]. [[CT scan]] may be helpful to define these [[structures]] in large patients or if overlying gas-filled bowel obscures the [[upper abdominal]] [[anatomy]].<ref name="pmid10464794">{{cite journal| author=Applegate KE, Goske MJ, Pierce G, Murphy D| title=Situs revisited: imaging of the heterotaxy syndrome. | journal=Radiographics | year= 1999 | volume= 19 | issue= 4 | pages= 837-52; discussion 853-4 | pmid=10464794 | doi=10.1148/radiographics.19.4.g99jl31837 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10464794 }} </ref><br />
{|<br />
|[[Image:Situs-ambiguous-asplenia-syndrome-with-bilateral-right-sidedness CT.jpg|thumb|right|300px|Spleen- Case courtesy of A Prof. Essam G Ghonaim, Radiopaedia.org, rID: 37551]]<br />
|}<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Radiology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_echocardiography_and_ultrasound&diff=1713509Asplenia echocardiography and ultrasound2021-09-10T05:07:43Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}}{{Kalpana Giri}}<br />
<br />
==Overview==<br />
An Echo may be helpful in the diagnosis of [[asplenia]] with [[complex cardiac anomalies]]. An [[ultrasound]] may be helpful in the diagnosis of [[asplenia]].<br />
<br />
==Echocardiography==<br />
<br />
*An Echo may be helpful in the diagnosis of [[asplenia]] with [[complex cardiac anomalies]]. Findings on an Echo includes:<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> <ref name="pmid27504371">{{cite journal| author=Bhalla K, Singh J, Yadav J, Mehra S| title=Asplenia Syndrome in a Neonate: A Case Report. | journal=J Clin Diagn Res | year= 2016 | volume= 10 | issue= 6 | pages= SD05-6 | pmid=27504371 | doi=10.7860/JCDR/2016/18535.8028 | pmc=4963731 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27504371 }} </ref><br />
**[[Total anomalous pulmonary venous return]]<br />
**[[Right atrial isomerism]]<br />
**[[Atrioventricular septal defect]]<br />
**[[Transposition of great arteries]]<br />
**[[pulmonary arterial hypertension]]<br />
**[[Mesocardia]]<br />
**[[single ventricle]] <br />
**[[large patent ductus arteriosus with left to right shunt]].<br />
<br />
==Ultrasound==<br />
*An [[ultrasound]] may be helpful in the diagnosis of [[asplenia]], ultrasound may indicate:<ref name="pmid31703560">{{cite journal| author=Albrecht T, Poss K, Issaranggoon Na Ayuthaya S, Triden L, Schleiss KL, Schleiss MR| title=Case report of congenital asplenia presenting with Haemophilus influenzae type a (Hia) sepsis: an emerging pediatric infection in Minnesota. | journal=BMC Infect Dis | year= 2019 | volume= 19 | issue= 1 | pages= 947 | pmid=31703560 | doi=10.1186/s12879-019-4572-4 | pmc=6842177 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31703560 }} </ref><br />
*[[absence]] of [[spleen]].<br />
{|<br />
|[[Image:Asplenia-syndrome usg.jpg|thumb|right|300px|Spleen- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 9902]]<br />
|}<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Radiology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_x_ray&diff=1713508Asplenia x ray2021-09-10T05:06:56Z<p>Farima Kahe: /* X Ray */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}}{{Kalpana Giri}}<br />
==Overview==<br />
An X-ray of the chest can be done to assess [[Cardiomegaly]], [[Pulmonary oligemia]], [[Dextrocardia]].<br />
<br />
==X Ray==<br />
<br />
There is no particular role for x-ray in asplenia. However, in patients who have asplenia syndrome, a syndrome associated with complex cardiopathy and situs anomalies of other thoracoabdominal organs, an X-ray of the chest can be done to assess:<ref name="pmid27504371">{{cite journal| author=Bhalla K, Singh J, Yadav J, Mehra S| title=Asplenia Syndrome in a Neonate: A Case Report. | journal=J Clin Diagn Res | year= 2016 | volume= 10 | issue= 6 | pages= SD05-6 | pmid=27504371 | doi=10.7860/JCDR/2016/18535.8028 | pmc=4963731 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27504371 }} </ref><br />
*[[Cardiomegaly]] <br />
*[[Pulmonary oligemia]]<br />
*[[Dextrocardia]]<br />
In patient with [[sepsis]] with [[concomitant]] [[osteoarthritis]], a [[knee X-ray]] may be helpful to demonstrate a [[large]] [[joint effusion]].<ref name="pmid31703560">{{cite journal| author=Albrecht T, Poss K, Issaranggoon Na Ayuthaya S, Triden L, Schleiss KL, Schleiss MR| title=Case report of congenital asplenia presenting with Haemophilus influenzae type a (Hia) sepsis: an emerging pediatric infection in Minnesota. | journal=BMC Infect Dis | year= 2019 | volume= 19 | issue= 1 | pages= 947 | pmid=31703560 | doi=10.1186/s12879-019-4572-4 | pmc=6842177 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31703560 }} </ref><br />
{|<br />
|[[Image:Asplenia-syndrome xray.jpg|thumb|left|300px|Spleen- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 9902]]<br />
|}<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Radiology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_x_ray&diff=1713507Asplenia x ray2021-09-10T05:06:42Z<p>Farima Kahe: /* X Ray */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}}{{Kalpana Giri}}<br />
==Overview==<br />
An X-ray of the chest can be done to assess [[Cardiomegaly]], [[Pulmonary oligemia]], [[Dextrocardia]].<br />
<br />
==X Ray==<br />
{|<br />
|[[Image:Asplenia-syndrome xray.jpg|thumb|left|300px|Spleen- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 9902]]<br />
|}<br />
There is no particular role for x-ray in asplenia. However, in patients who have asplenia syndrome, a syndrome associated with complex cardiopathy and situs anomalies of other thoracoabdominal organs, an X-ray of the chest can be done to assess:<ref name="pmid27504371">{{cite journal| author=Bhalla K, Singh J, Yadav J, Mehra S| title=Asplenia Syndrome in a Neonate: A Case Report. | journal=J Clin Diagn Res | year= 2016 | volume= 10 | issue= 6 | pages= SD05-6 | pmid=27504371 | doi=10.7860/JCDR/2016/18535.8028 | pmc=4963731 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27504371 }} </ref><br />
*[[Cardiomegaly]] <br />
*[[Pulmonary oligemia]]<br />
*[[Dextrocardia]]<br />
In patient with [[sepsis]] with [[concomitant]] [[osteoarthritis]], a [[knee X-ray]] may be helpful to demonstrate a [[large]] [[joint effusion]].<ref name="pmid31703560">{{cite journal| author=Albrecht T, Poss K, Issaranggoon Na Ayuthaya S, Triden L, Schleiss KL, Schleiss MR| title=Case report of congenital asplenia presenting with Haemophilus influenzae type a (Hia) sepsis: an emerging pediatric infection in Minnesota. | journal=BMC Infect Dis | year= 2019 | volume= 19 | issue= 1 | pages= 947 | pmid=31703560 | doi=10.1186/s12879-019-4572-4 | pmc=6842177 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31703560 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Radiology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_history_and_symptoms&diff=1713506Asplenia history and symptoms2021-09-10T05:04:30Z<p>Farima Kahe: /* History and Symptoms */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}} {{Kalpana Giri}}<br />
==Overview==<br />
Patients with asplenia may have a positive history of trauma, surgery, [[sickle cell disease]], [[chronic liver disease]], [[Human Immunodeficiency Virus|human immunodeficiency virus]] (HIV), [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]], [[mutations]] in [[RPSA]], [[connexin 43]] and [[ZIC3]]. Common symptoms include chills, sore throat, [[diarrhea]], [[muscle aches]], abdominal pain, [[nausea]] and [[vomiting]], neck stiffness, [[altered mental status]]. Less common symptoms include [[cyanosis]], [[Respiratory failure|respiratory distress]].<br />
<br />
==History and Symptoms==<br />
<br />
===History===<br />
Patients with [[asplenia]] may have a [[positive]] history of:<br />
<br />
*[[Trauma]]<ref name="pmid19618213">{{cite journal| author=Ahmed SA, Zengeya S, Kini U, Pollard AJ| title=Familial isolated congenital asplenia: case report and literature review. | journal=Eur J Pediatr | year= 2010 | volume= 169 | issue= 3 | pages= 315-8 | pmid=19618213 | doi=10.1007/s00431-009-1030-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19618213 }} </ref><br />
*[[Surgery]]<br />
*[[Sickle-cell disease|Sickle cell disease]]<ref name="pmid18564289">{{cite journal| author=Thiruppathy K, Privitera A, Jain K, Gupta S| title=Congenital asplenia and group B streptococcus sepsis in the adult: case report and review of the literature. | journal=FEMS Immunol Med Microbiol | year= 2008 | volume= 53 | issue= 3 | pages= 437-9 | pmid=18564289 | doi=10.1111/j.1574-695X.2008.00422.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18564289 }} </ref><br />
*Chronic liver disease, [[human immunodeficiency syndrome (HIV)]], [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]]<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
*[[Heterozygous]] coding [[mutations]] in [[RPSA]]<br />
*[[Genetic defect]]: [[connexin 43]] and [[ZIC3]] have been shown to be involved in [[heterotaxia syndromes]].<ref name="pmid13322226">{{cite journal| author=MYERSON RM, KOELLE WA| title=Congenital absence of the spleen in an adult; report of a case associated with recurrent Waterhouse-Friderichsen syndrome. | journal=N Engl J Med | year= 1956 | volume= 254 | issue= 24 | pages= 1131-2 | pmid=13322226 | doi=10.1056/NEJM195606142542406 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13322226 }} </ref><br />
<br />
===Common Symptoms===<br />
Common symptoms of asplenia include:<br />
<br />
*[[Fever]] <ref name="pmid28659372">{{cite journal| author=Yildiz H, Yombi JC| title=Fever and asplenia: a dangerous association. | journal=BMJ Case Rep | year= 2017 | volume= 2017 | issue= | pages= | pmid=28659372 | doi=10.1136/bcr-2017-220513 | pmc=5535142 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28659372 }} </ref><br />
*[[Chills]]<br />
*[[Sore throat]]<br />
*[[Diarrhea]]<br />
*Muscle aches<br />
*[[Abdominal pain]]<ref name="pmid18564289">{{cite journal| author=Thiruppathy K, Privitera A, Jain K, Gupta S| title=Congenital asplenia and group B streptococcus sepsis in the adult: case report and review of the literature. | journal=FEMS Immunol Med Microbiol | year= 2008 | volume= 53 | issue= 3 | pages= 437-9 | pmid=18564289 | doi=10.1111/j.1574-695X.2008.00422.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18564289 }} </ref><br />
*[[Nausea]] and [[vomiting]]<br />
*Neck stiffness (nuchal rigidity) <ref name="pmid26130882">{{cite journal| author=Huebner ML, Milota KA| title=Asplenia and fever. | journal=Proc (Bayl Univ Med Cent) | year= 2015 | volume= 28 | issue= 3 | pages= 340-1 | pmid=26130882 | doi=10.1080/08998280.2015.11929267 | pmc=4462215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26130882 }} </ref><br />
*[[Altered mental status]]<br />
*[[Myalgia]]<br />
<br />
===Less Common Symptoms===<br />
<br />
*[[Cyanosis]] <ref name="pmid18564289">{{cite journal| author=Thiruppathy K, Privitera A, Jain K, Gupta S| title=Congenital asplenia and group B streptococcus sepsis in the adult: case report and review of the literature. | journal=FEMS Immunol Med Microbiol | year= 2008 | volume= 53 | issue= 3 | pages= 437-9 | pmid=18564289 | doi=10.1111/j.1574-695X.2008.00422.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18564289 }} </ref><br />
*[[Respiratory distress]]<br />
<br />
==References==<br />
{{Reflist|2}}<br />
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{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
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[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_diagnostic_study_of_choice&diff=1713504Asplenia diagnostic study of choice2021-09-10T04:59:25Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}} {{Kalpana Giri}}<br />
==Overview==<br />
[[Spleen scintigraphy]] is the [[gold standard]] test for the diagnosis of asplenia.<br />
<br />
==Diagnostic Study of Choice==<br />
<br />
===Study of choice===<br />
<br />
*[[Spleen scintigraphy]], with the use of [[Technetium-99m-labelled]] heat-damaged autologous erythrocyte clearance is the [[gold standard]] test for the diagnosis of asplenia.<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
<br />
===Diagnostic finding===<br />
<br />
*Measures [[spleen]] function<br />
*Measures [[splenic]] uptake and clearance of heat-damaged [[erythrocytes]]<br />
<br />
===Name of Diagnostic Criteria===<br />
<br />
There are no established criteria for the diagnosis of asplenia.<br />
<br />
==References==<br />
{{Reflist|2}}<br />
{{WH}}<br />
{{WS}}<br />
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[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_natural_history,_complications_and_prognosis&diff=1713503Asplenia natural history, complications and prognosis2021-09-10T04:57:37Z<p>Farima Kahe: /* Natural History, Complications, and Prognosis */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
<br />
{{CMG}}; {{AE}} {{Kalpana Giri}} <br />
<br />
==Overview==<br />
If left [[untreated]], patients with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]]. Common complications including [[overwhelming post-splenectomy infection (OPSI)]], [[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]], arterial and [[Venous thromboembolism|venous thrombosis]], [[Waterhouse-Friedrichsen syndrome]]. Less common complications include [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]]. Prognosis of asplenia is poor.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
===Natural History===<br />
<br />
*If left [[untreated]], patients with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Patients with [[functional asplenia]] and [[hyposplenia]] who have not [[undergone]] a [[splenectomy]] can present with a [[life-threatening]] [[infection]] comparable to an [[OPSI]].<br />
*[[Overwhelming post-splenectomy infection]] (OPSI) occurs in [[5%]] of [[patients]] and has a [[mortality rate]] of [[38%–70%]].<br />
*Functional asplenia is most common in [[sickle cell disease]] and [[occurs]] within the [[first 3-5 years]] of life.<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
===Complications===<br />
'''Common complications'''<br />
<br />
*Recurrent infections<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*[[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]]<br />
*[[Waterhouse-Friedrichsen syndrome]] and [[Purpura fulminans]] <ref name="pmid27583208">{{cite journal| author=Hale AJ, LaSalvia M, Kirby JE, Kimball A, Baden R| title=Fatal purpura fulminans and Waterhouse-Friderichsen syndrome from fulminant Streptococcus pneumoniae sepsis in an asplenic young adult. | journal=IDCases | year= 2016 | volume= 6 | issue= | pages= 1-4 | pmid=27583208 | doi=10.1016/j.idcr.2016.08.004 | pmc=4995527 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27583208 }} </ref><br />
*[[Arterial thrombosis]] and [[coronary artery disease]] <ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
*[[Venous thrombosis]] such as [[deep vein thrombosis]], [[pulmonary embolism]], [[splenic]] and [[portal vein thrombosis]]<br />
*[[Pulmonary hypertension]], [[associated]] with [[right ventricular dysfunction]].<br />
<br />
'''Less Common complications'''<br />
<br />
*Patients with [[asplenia]] are also at risk for less common [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref><br />
<br />
===Prognosis===<br />
<br />
*Prognosis of asplenia is poor, if asplenic patients are not diagnosed on time, and do not receive proper [[vaccination]]. These patients are at high risk of [[infection]] leads to [[sepsis]], [[septic shock]], and death.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Huebner and colleagues, in One case report provides evidence of the poor [[prognosis]] in asplenic patients who present with infection despite receiving standard medical care.<ref name="pmid26130882">{{cite journal| author=Huebner ML, Milota KA| title=Asplenia and fever. | journal=Proc (Bayl Univ Med Cent) | year= 2015 | volume= 28 | issue= 3 | pages= 340-1 | pmid=26130882 | doi=10.1080/08998280.2015.11929267 | pmc=4462215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26130882 }} </ref><br />
*In [[Right isomerism]] (Ivemark syndrome) [[Prognosis]] is Poor, 80 % die within first year.<ref name="pmid22470785">{{cite journal| author=Agarwal H, Mittal SK, Kulkarni CD, Verma AK, Srivastava SK| title=Right isomerism with complex cardiac anomalies presenting with dysphagia--a case report. | journal=J Radiol Case Rep | year= 2011 | volume= 5 | issue= 4 | pages= 1-9 | pmid=22470785 | doi=10.3941/jrcr.v5i4.702 | pmc=3303439 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22470785 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
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{{WH}}<br />
{{WS}}<br />
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[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_screening&diff=1713499Asplenia screening2021-09-10T04:54:10Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Screening for asplenia is by the detection of [[Howell-Jolly bodies]] (ie, [[erythrocytes]] with [[nuclear remnants]]) in peripheral blood smear.<ref name="pmid2125541" /><br />
<br />
==Screening==<br />
Screening for asplenia is by the detection of [[Howell-Jolly bodies]] (ie, [[erythrocytes]] with [[nuclear remnants]]) in peripheral blood smear.<ref name="pmid2125541">{{cite journal| author=Corazza GR, Ginaldi L, Zoli G, Frisoni M, Lalli G, Gasbarrini G | display-authors=etal| title=Howell-Jolly body counting as a measure of splenic function. A reassessment. | journal=Clin Lab Haematol | year= 1990 | volume= 12 | issue= 3 | pages= 269-75 | pmid=2125541 | doi=10.1111/j.1365-2257.1990.tb00037.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2125541 }} </ref><br />
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==References==<br />
{{reflist|2}}<br />
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{{WS}}<br />
{{WH}}<br />
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[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_risk_factors&diff=1713496Asplenia risk factors2021-09-10T04:49:27Z<p>Farima Kahe: /* Risk Factors */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
<br />
==Overview==<br />
Common risk factors include: [[Trauma]]; [[atraumatic]] indication for [[splenectomy]] includes: [[hematological autoimmune disorder]], [[Idiopathic Thrombocytopenic Purpura (ITP)]], [[Autoimmune Hemolytic Anemia (AIHA)]]; [[Surgery]] includes: [[unexplained splenomegaly]], [[autoimmune]], [[malignant]]. Less Common Risk Factors include: mutation in [[gene RPSA]] and human [[genes]], [[connexin 43]] and [[ZIC3]].<br />
<br />
==Risk Factors==<br />
===Common Risk Factors===<br />
<br />
*Common risk factors in the development of asplenia include:<br />
**[[Trauma]] <ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref><br />
**Atraumatic indication for [[splenectomy]] includes:<ref name="pmid27018168">{{cite journal| author=Browning MG, Bullen N, Nokes T, Tucker K, Coleman M| title=The evolving indications for splenectomy. | journal=Br J Haematol | year= 2017 | volume= 177 | issue= 2 | pages= 321-324 | pmid=27018168 | doi=10.1111/bjh.14060 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27018168 }} </ref><br />
***[[hematological autoimmune disorder]]<br />
****[[Idiopathic Thrombocytopenic Purpura (ITP)]]<br />
****[[Autoimmune Hemolytic Anemia (AIHA)]]<br />
**[[Surgery]]<br />
**Unexplained [[splenomegaly]]<br />
**Autoimmune diseases<br />
**Malignancy<br />
<br />
===Less Common Risk Factors===<br />
<br />
*Less common risk factor include:<br />
**Mutations in the [[gene RPSA]], is a risk factor for [[Isolated asplenia]].<ref name="pmid25840456">{{cite journal| author=Bolze A| title=[Connecting isolated congenital asplenia to the ribosome]. | journal=Biol Aujourdhui | year= 2014 | volume= 208 | issue= 4 | pages= 289-98 | pmid=25840456 | doi=10.1051/jbio/2015001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25840456 }} </ref><br />
**Two human [[genes]], [[connexin 43]] and [[ZIC3]], is a risk factor for [[heterotaxy syndrome]].<ref name="pmid19618213">{{cite journal| author=Ahmed SA, Zengeya S, Kini U, Pollard AJ| title=Familial isolated congenital asplenia: case report and literature review. | journal=Eur J Pediatr | year= 2010 | volume= 169 | issue= 3 | pages= 315-8 | pmid=19618213 | doi=10.1007/s00431-009-1030-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19618213 }} </ref><br />
<br />
==References==<br />
{{reflist|2}}<br />
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{{WS}}<br />
{{WH}}<br />
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[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_causes&diff=1713495Asplenia causes2021-09-10T04:39:56Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia is caused by either [[congenital]], [[acquired conditions]], or [[functional]]. Common cause include acquired asplenia associated after [[trauma]] or [[surgery]], is one of the commonest cause of the absence of [[splenic tissue]], Functional asplenia include [[diseases]] such as [[sickle cell (SC) disease]], [[hemoglobin SC disease]] and [[sickle beta-thalassemia]], Hyposplenia occurs due to [[medical conditions]] such as [[chronic liver disease]], [[human immunodeficiency syndrome]] ([[HIV]]), [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]]. Less Common Causes include congenital asplenia may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]].<br />
<br />
==Causes==<br />
Asplenia is caused by either [[congenital]], [[acquired conditions]], or [[functional]].<br />
===Common Causes===<br />
===Acquired===<br />
<br />
[[Image:Situs-ambiguous-asplenia-syndrome-with-bilateral-right-sidedness.jpg|thumb|right|300px|Asplenia syndrome- Case courtesy of A Prof. Essam G Ghonaim, Radiopaedia.org, rID: 37551]]<br />
<br />
*'''Acquired asplenia''' associated after [[trauma]] or [[surgery]], is one of the commonest cause of the absence of [[splenic tissue]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref><br />
<br />
*'''Functional asplenia''' include [[diseases]] such as [[sickle cell (SC) disease]], [[hemoglobin SC disease]] and [[sickle beta-thalassemia]].<ref name="pmid18564289">{{cite journal| author=Thiruppathy K, Privitera A, Jain K, Gupta S| title=Congenital asplenia and group B streptococcus sepsis in the adult: case report and review of the literature. | journal=FEMS Immunol Med Microbiol | year= 2008 | volume= 53 | issue= 3 | pages= 437-9 | pmid=18564289 | doi=10.1111/j.1574-695X.2008.00422.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18564289 }} </ref><br />
*'''Hyposplenia''' occurs due to [[medical conditions]] such as [[chronic liver disease]], [[human immunodeficiency syndrome (HIV)]], [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
===Less Common Causes===<br />
===Congenital===<br />
<br />
*'''Congenital asplenia''' may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]]. This [[syndrome]] is classified under [[heterotaxy syndrome]]. It is associated with [[malformation]] of the [[heart]], and abnormal arrangements of organs of the chest and abdomen along with [[asplenia]] or [[hypoplasia]] of the [[spleen]].<ref name="pmid13322226">{{cite journal| author=MYERSON RM, KOELLE WA| title=Congenital absence of the spleen in an adult; report of a case associated with recurrent Waterhouse-Friderichsen syndrome. | journal=N Engl J Med | year= 1956 | volume= 254 | issue= 24 | pages= 1131-2 | pmid=13322226 | doi=10.1056/NEJM195606142542406 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13322226 }} </ref><br />
*'''Isolated asplenia''' are rare and etiology was [[genetic]], due to [[mutations]] in the [[gene RPSA]], which encodes [[ribosomal protein SA]], cause more than half of the cases of [[isolated congenital asplenia]], which was first discovered in 2013.<br />
*In '''heterotaxy syndrome''' Two human [[genes]], [[connexin 43]] and [[ZIC3]], have been shown to be involved.<br />
*congenital asplenia a very rare anomaly that has been reported in both infants and adults.<br />
*'''Infantile''' cases are almost invariably associated with serious congenital malformations of the [[cardiovascular]], [[gastrointestinal]], and [[pulmonary]] systems that are not compatible with long life.<br />
*These include [[atrioventricular]] communist, [[pulmonary stenosis]] or [[atresia]], anomalies of the [[aorta]] and [[great vessels]], complete or partial [[situs in versus]], [[anomalies]] of the [[mesenteric]] and [[accessory lobes of the lungs]].<br />
*In the '''adult''' [[splenic]] [[agenesis]] is usually an isolated and unexpected finding.<br />
<br />
==References==<br />
{{Reflist|2}}<br />
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{{WH}}<br />
{{WS}}<br />
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[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_pathophysiology&diff=1713490Asplenia pathophysiology2021-09-10T04:27:14Z<p>Farima Kahe: /* Physiology */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].<br />
<br />
==Pathophysiology==<br />
<br />
===Physiology===<br />
<br />
The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The red pulp is a [[sponge-like]] structure filled with [[blood]] flowing through [[sinuses]] and [[cords]] functions as a filter for [[blood elements]].<ref name="pmid21474172">Di Sabatino A, Carsetti R, Corazza GR (2011) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=21474172 Post-splenectomy and hyposplenic states.] ''Lancet'' 378 (9785):86-97. [http://dx.doi.org/10.1016/S0140-6736(10)61493-6 DOI:10.1016/S0140-6736(10)61493-6] PMID: [https://pubmed.gov/21474172 21474172]</ref> The [[white pulp]] consists primarily of [[lymphatic tissue]] creating structures called [[germinal centers]] which contain [[lymphocytes]] (activated [[B-lymphocytes]] among others), [[macrophages]], and [[dendritic cells]]. They are situated in direct contact with [[splenic arterioles]], branches of the [[splenic artery]]. Another region of the [[white pulp]] is that the [[periarteriolar]] [[lymphatic sheath]], which consists of [[nodules]] containing mostly [[B lymphocytes]]. The [[marginal zone]] surrounds the [[white pulp]] and consists of [[blood vessels]], [[macrophages]], and [[specialized B cells]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi? dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref> The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.<br />
{|<br />
|[[Image:Illu spleen.jpg|thumb|300px|Spleen- Public Domain, https://commons.wikimedia.org/w/index.php?curid=1394146]]<br />
|-<br />
|[[Image:3D Medical Animation Spleen Anatomy.jpg|thumb|300px|Spleen- By https://www.scientificanimations.com - https://www.scientificanimations.com/wiki-images, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=91085787]]<br />
|-<br />
|[[Image:Spleen hyaloserositis - low mag.jpg|thumb|300px|Spleen- By Nephron - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=11054496]]<br />
|}<br />
<br />
===Pathology===<br />
The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref> It is [[understood]] that [[Asplenia]] is a variety of [[clinical settings]], and it can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[risk]] of [[death]] from [[septicaemia]] is [[200 times]] higher in [[asplenic]] [[patients]] than the [[individual]] with a [[spleen]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. They can initiate [[T-cell-independent]] [[immune responses]] on [[infection]] or [[vaccination]] with [[capsular polysaccharide antigens]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref> The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref> About 30% of platelets are sequestrated in the splenic tissue, spleen is the main site of storage of circulating platelels. <ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
[[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. [[Functional hyposplenism]] [[associated]] with [[celiac disease]] and [[inflammatory bowel disease]] leads to spleen’s [[reticuloendothelial atrophy]] due to loss of [[lymphocytes]] through the [[inflamed]] [[enteric mucosa]]. [[Hyposplenism]] in [[autoimmune disorders]] one of the major mechanisms could be [[reticuloendothelial]] [[block]] due to [[circulating]] [[immune complexes].<br />
In [[hematologic]] and [[neoplastic disorders]], it is probably due to [[splenic tissue]] [[infiltration]] by [[tumor cells]] or due to [[vascular occlusion]].<br />
[[Hyposplenism]] in [[hepatic disorders]], might be caused by [[disruption]] of normal [[hepatic]] [[microcirculation]] due to [[portal hypertension]]. In [[acute]] or [[chronic]] [[alcohol consumption]], [[direct]] [[toxic effect]] of [[alcohol]] is implied in all disorders.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==Genetics==<br />
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref><br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_pathophysiology&diff=1713489Asplenia pathophysiology2021-09-10T04:26:58Z<p>Farima Kahe: /* Pathophysiology */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].<br />
<br />
==Pathophysiology==<br />
<br />
===Physiology===<br />
{|<br />
|[[Image:Illu spleen.jpg|thumb|300px|Spleen- Public Domain, https://commons.wikimedia.org/w/index.php?curid=1394146]]<br />
|-<br />
|[[Image:3D Medical Animation Spleen Anatomy.jpg|thumb|300px|Spleen- By https://www.scientificanimations.com - https://www.scientificanimations.com/wiki-images, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=91085787]]<br />
|-<br />
|[[Image:Spleen hyaloserositis - low mag.jpg|thumb|300px|Spleen- By Nephron - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=11054496]]<br />
|}<br />
The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The red pulp is a [[sponge-like]] structure filled with [[blood]] flowing through [[sinuses]] and [[cords]] functions as a filter for [[blood elements]].<ref name="pmid21474172">Di Sabatino A, Carsetti R, Corazza GR (2011) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=21474172 Post-splenectomy and hyposplenic states.] ''Lancet'' 378 (9785):86-97. [http://dx.doi.org/10.1016/S0140-6736(10)61493-6 DOI:10.1016/S0140-6736(10)61493-6] PMID: [https://pubmed.gov/21474172 21474172]</ref> The [[white pulp]] consists primarily of [[lymphatic tissue]] creating structures called [[germinal centers]] which contain [[lymphocytes]] (activated [[B-lymphocytes]] among others), [[macrophages]], and [[dendritic cells]]. They are situated in direct contact with [[splenic arterioles]], branches of the [[splenic artery]]. Another region of the [[white pulp]] is that the [[periarteriolar]] [[lymphatic sheath]], which consists of [[nodules]] containing mostly [[B lymphocytes]]. The [[marginal zone]] surrounds the [[white pulp]] and consists of [[blood vessels]], [[macrophages]], and [[specialized B cells]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi? dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref> The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.<br />
<br />
===Pathology===<br />
The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref> It is [[understood]] that [[Asplenia]] is a variety of [[clinical settings]], and it can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[risk]] of [[death]] from [[septicaemia]] is [[200 times]] higher in [[asplenic]] [[patients]] than the [[individual]] with a [[spleen]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. They can initiate [[T-cell-independent]] [[immune responses]] on [[infection]] or [[vaccination]] with [[capsular polysaccharide antigens]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref> The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref> About 30% of platelets are sequestrated in the splenic tissue, spleen is the main site of storage of circulating platelels. <ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
[[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. [[Functional hyposplenism]] [[associated]] with [[celiac disease]] and [[inflammatory bowel disease]] leads to spleen’s [[reticuloendothelial atrophy]] due to loss of [[lymphocytes]] through the [[inflamed]] [[enteric mucosa]]. [[Hyposplenism]] in [[autoimmune disorders]] one of the major mechanisms could be [[reticuloendothelial]] [[block]] due to [[circulating]] [[immune complexes].<br />
In [[hematologic]] and [[neoplastic disorders]], it is probably due to [[splenic tissue]] [[infiltration]] by [[tumor cells]] or due to [[vascular occlusion]].<br />
[[Hyposplenism]] in [[hepatic disorders]], might be caused by [[disruption]] of normal [[hepatic]] [[microcirculation]] due to [[portal hypertension]]. In [[acute]] or [[chronic]] [[alcohol consumption]], [[direct]] [[toxic effect]] of [[alcohol]] is implied in all disorders.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==Genetics==<br />
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref><br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_pathophysiology&diff=1713488Asplenia pathophysiology2021-09-10T04:24:33Z<p>Farima Kahe: /* Pathophysiology */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].<br />
<br />
==Pathophysiology==<br />
<br />
===Physiology===<br />
{|<br />
|[[Image:Illu spleen.jpg|thumb|300px|Spleen- Public Domain, https://commons.wikimedia.org/w/index.php?curid=1394146]]<br />
|}<br />
The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The red pulp is a [[sponge-like]] structure filled with [[blood]] flowing through [[sinuses]] and [[cords]] functions as a filter for [[blood elements]].<ref name="pmid21474172">Di Sabatino A, Carsetti R, Corazza GR (2011) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=21474172 Post-splenectomy and hyposplenic states.] ''Lancet'' 378 (9785):86-97. [http://dx.doi.org/10.1016/S0140-6736(10)61493-6 DOI:10.1016/S0140-6736(10)61493-6] PMID: [https://pubmed.gov/21474172 21474172]</ref> The [[white pulp]] consists primarily of [[lymphatic tissue]] creating structures called [[germinal centers]] which contain [[lymphocytes]] (activated [[B-lymphocytes]] among others), [[macrophages]], and [[dendritic cells]]. They are situated in direct contact with [[splenic arterioles]], branches of the [[splenic artery]]. Another region of the [[white pulp]] is that the [[periarteriolar]] [[lymphatic sheath]], which consists of [[nodules]] containing mostly [[B lymphocytes]]. The [[marginal zone]] surrounds the [[white pulp]] and consists of [[blood vessels]], [[macrophages]], and [[specialized B cells]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi? dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref> The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.<br />
<br />
===Pathology===<br />
{|<br />
|[[Image:3D Medical Animation Spleen Anatomy.jpg|thumb|300px|Spleen- By https://www.scientificanimations.com - https://www.scientificanimations.com/wiki-images, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=91085787]]<br />
|}<br />
<br />
The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref> It is [[understood]] that [[Asplenia]] is a variety of [[clinical settings]], and it can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[risk]] of [[death]] from [[septicaemia]] is [[200 times]] higher in [[asplenic]] [[patients]] than the [[individual]] with a [[spleen]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. They can initiate [[T-cell-independent]] [[immune responses]] on [[infection]] or [[vaccination]] with [[capsular polysaccharide antigens]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref> The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref> About 30% of platelets are sequestrated in the splenic tissue, spleen is the main site of storage of circulating platelels. <ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
{|<br />
|[[Image:Spleen hyaloserositis - low mag.jpg|thumb|300px|Spleen- By Nephron - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=11054496]]<br />
|}<br />
[[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. [[Functional hyposplenism]] [[associated]] with [[celiac disease]] and [[inflammatory bowel disease]] leads to spleen’s [[reticuloendothelial atrophy]] due to loss of [[lymphocytes]] through the [[inflamed]] [[enteric mucosa]]. [[Hyposplenism]] in [[autoimmune disorders]] one of the major mechanisms could be [[reticuloendothelial]] [[block]] due to [[circulating]] [[immune complexes].<br />
In [[hematologic]] and [[neoplastic disorders]], it is probably due to [[splenic tissue]] [[infiltration]] by [[tumor cells]] or due to [[vascular occlusion]].<br />
[[Hyposplenism]] in [[hepatic disorders]], might be caused by [[disruption]] of normal [[hepatic]] [[microcirculation]] due to [[portal hypertension]]. In [[acute]] or [[chronic]] [[alcohol consumption]], [[direct]] [[toxic effect]] of [[alcohol]] is implied in all disorders.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==Genetics==<br />
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref><br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_pathophysiology&diff=1713487Asplenia pathophysiology2021-09-10T04:23:48Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].<br />
<br />
==Pathophysiology==<br />
<br />
===Physiology===<br />
[[Image:Illu spleen.jpg|thumb|300px|Spleen- Public Domain, https://commons.wikimedia.org/w/index.php?curid=1394146]]<br />
<br />
The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The red pulp is a [[sponge-like]] structure filled with [[blood]] flowing through [[sinuses]] and [[cords]] functions as a filter for [[blood elements]].<ref name="pmid21474172">Di Sabatino A, Carsetti R, Corazza GR (2011) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=21474172 Post-splenectomy and hyposplenic states.] ''Lancet'' 378 (9785):86-97. [http://dx.doi.org/10.1016/S0140-6736(10)61493-6 DOI:10.1016/S0140-6736(10)61493-6] PMID: [https://pubmed.gov/21474172 21474172]</ref> The [[white pulp]] consists primarily of [[lymphatic tissue]] creating structures called [[germinal centers]] which contain [[lymphocytes]] (activated [[B-lymphocytes]] among others), [[macrophages]], and [[dendritic cells]]. They are situated in direct contact with [[splenic arterioles]], branches of the [[splenic artery]]. Another region of the [[white pulp]] is that the [[periarteriolar]] [[lymphatic sheath]], which consists of [[nodules]] containing mostly [[B lymphocytes]]. The [[marginal zone]] surrounds the [[white pulp]] and consists of [[blood vessels]], [[macrophages]], and [[specialized B cells]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi? dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref> The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.<br />
<br />
===Pathology===<br />
{|<br />
|[[Image:3D Medical Animation Spleen Anatomy.jpg|thumb|300px|Spleen- By https://www.scientificanimations.com - https://www.scientificanimations.com/wiki-images, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=91085787]]<br />
|}<br />
<br />
The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref> It is [[understood]] that [[Asplenia]] is a variety of [[clinical settings]], and it can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[risk]] of [[death]] from [[septicaemia]] is [[200 times]] higher in [[asplenic]] [[patients]] than the [[individual]] with a [[spleen]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. They can initiate [[T-cell-independent]] [[immune responses]] on [[infection]] or [[vaccination]] with [[capsular polysaccharide antigens]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref> The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref> About 30% of platelets are sequestrated in the splenic tissue, spleen is the main site of storage of circulating platelels. <ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
[[Image:Spleen hyaloserositis - low mag.jpg|thumb|300px|Spleen- By Nephron - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=11054496]]<br />
[[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. [[Functional hyposplenism]] [[associated]] with [[celiac disease]] and [[inflammatory bowel disease]] leads to spleen’s [[reticuloendothelial atrophy]] due to loss of [[lymphocytes]] through the [[inflamed]] [[enteric mucosa]]. [[Hyposplenism]] in [[autoimmune disorders]] one of the major mechanisms could be [[reticuloendothelial]] [[block]] due to [[circulating]] [[immune complexes].<br />
In [[hematologic]] and [[neoplastic disorders]], it is probably due to [[splenic tissue]] [[infiltration]] by [[tumor cells]] or due to [[vascular occlusion]].<br />
[[Hyposplenism]] in [[hepatic disorders]], might be caused by [[disruption]] of normal [[hepatic]] [[microcirculation]] due to [[portal hypertension]]. In [[acute]] or [[chronic]] [[alcohol consumption]], [[direct]] [[toxic effect]] of [[alcohol]] is implied in all disorders.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==Genetics==<br />
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref><br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_pathophysiology&diff=1713486Asplenia pathophysiology2021-09-10T04:22:47Z<p>Farima Kahe: /* Pathophysiology */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].<br />
<br />
==Pathophysiology==<br />
<br />
===Physiology===<br />
[[Image:Illu spleen.jpg|thumb|300px|Spleen- Public Domain, https://commons.wikimedia.org/w/index.php?curid=1394146]]<br />
<br />
The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The red pulp is a [[sponge-like]] structure filled with [[blood]] flowing through [[sinuses]] and [[cords]] functions as a filter for [[blood elements]].<ref name="pmid21474172">Di Sabatino A, Carsetti R, Corazza GR (2011) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=21474172 Post-splenectomy and hyposplenic states.] ''Lancet'' 378 (9785):86-97. [http://dx.doi.org/10.1016/S0140-6736(10)61493-6 DOI:10.1016/S0140-6736(10)61493-6] PMID: [https://pubmed.gov/21474172 21474172]</ref> The [[white pulp]] consists primarily of [[lymphatic tissue]] creating structures called [[germinal centers]] which contain [[lymphocytes]] (activated [[B-lymphocytes]] among others), [[macrophages]], and [[dendritic cells]]. They are situated in direct contact with [[splenic arterioles]], branches of the [[splenic artery]]. Another region of the [[white pulp]] is that the [[periarteriolar]] [[lymphatic sheath]], which consists of [[nodules]] containing mostly [[B lymphocytes]]. The [[marginal zone]] surrounds the [[white pulp]] and consists of [[blood vessels]], [[macrophages]], and [[specialized B cells]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi? dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref> The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.<br />
<br />
===Pathology===<br />
{|[[Image:3D Medical Animation Spleen Anatomy.jpg|thumb|300px|Spleen- By https://www.scientificanimations.com - https://www.scientificanimations.com/wiki-images, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=91085787]]|}<br />
<br />
The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref> It is [[understood]] that [[Asplenia]] is a variety of [[clinical settings]], and it can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[risk]] of [[death]] from [[septicaemia]] is [[200 times]] higher in [[asplenic]] [[patients]] than the [[individual]] with a [[spleen]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. They can initiate [[T-cell-independent]] [[immune responses]] on [[infection]] or [[vaccination]] with [[capsular polysaccharide antigens]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref> The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref> About 30% of platelets are sequestrated in the splenic tissue, spleen is the main site of storage of circulating platelels. <ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
[[Image:Spleen hyaloserositis - low mag.jpg|thumb|300px|Spleen- By Nephron - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=11054496]]<br />
[[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. [[Functional hyposplenism]] [[associated]] with [[celiac disease]] and [[inflammatory bowel disease]] leads to spleen’s [[reticuloendothelial atrophy]] due to loss of [[lymphocytes]] through the [[inflamed]] [[enteric mucosa]]. [[Hyposplenism]] in [[autoimmune disorders]] one of the major mechanisms could be [[reticuloendothelial]] [[block]] due to [[circulating]] [[immune complexes].<br />
In [[hematologic]] and [[neoplastic disorders]], it is probably due to [[splenic tissue]] [[infiltration]] by [[tumor cells]] or due to [[vascular occlusion]].<br />
[[Hyposplenism]] in [[hepatic disorders]], might be caused by [[disruption]] of normal [[hepatic]] [[microcirculation]] due to [[portal hypertension]]. In [[acute]] or [[chronic]] [[alcohol consumption]], [[direct]] [[toxic effect]] of [[alcohol]] is implied in all disorders.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==Genetics==<br />
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref><br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_pathophysiology&diff=1713485Asplenia pathophysiology2021-09-10T04:21:37Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].<br />
<br />
==Pathophysiology==<br />
<br />
===Physiology===<br />
[[Image:Illu spleen.jpg|thumb|300px|Spleen- Public Domain, https://commons.wikimedia.org/w/index.php?curid=1394146]]<br />
<br />
The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The red pulp is a [[sponge-like]] structure filled with [[blood]] flowing through [[sinuses]] and [[cords]] functions as a filter for [[blood elements]].<ref name="pmid21474172">Di Sabatino A, Carsetti R, Corazza GR (2011) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=21474172 Post-splenectomy and hyposplenic states.] ''Lancet'' 378 (9785):86-97. [http://dx.doi.org/10.1016/S0140-6736(10)61493-6 DOI:10.1016/S0140-6736(10)61493-6] PMID: [https://pubmed.gov/21474172 21474172]</ref> The [[white pulp]] consists primarily of [[lymphatic tissue]] creating structures called [[germinal centers]] which contain [[lymphocytes]] (activated [[B-lymphocytes]] among others), [[macrophages]], and [[dendritic cells]]. They are situated in direct contact with [[splenic arterioles]], branches of the [[splenic artery]]. Another region of the [[white pulp]] is that the [[periarteriolar]] [[lymphatic sheath]], which consists of [[nodules]] containing mostly [[B lymphocytes]]. The [[marginal zone]] surrounds the [[white pulp]] and consists of [[blood vessels]], [[macrophages]], and [[specialized B cells]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi? dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref> The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.<br />
<br />
===Pathology===<br />
[[Image:3D Medical Animation Spleen Anatomy.jpg|thumb|300px|Spleen- By https://www.scientificanimations.com - https://www.scientificanimations.com/wiki-images, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=91085787]]<br />
<br />
The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref> It is [[understood]] that [[Asplenia]] is a variety of [[clinical settings]], and it can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[risk]] of [[death]] from [[septicaemia]] is [[200 times]] higher in [[asplenic]] [[patients]] than the [[individual]] with a [[spleen]].<ref name="pmid26557043">{{cite journal| author=Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T| title=Asplenia in children with congenital heart disease as a cause of poor outcome. | journal=Cent Eur J Immunol | year= 2015 | volume= 40 | issue= 2 | pages= 266-9 | pmid=26557043 | doi=10.5114/ceji.2015.52841 | pmc=4637402 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557043 }} </ref> The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. They can initiate [[T-cell-independent]] [[immune responses]] on [[infection]] or [[vaccination]] with [[capsular polysaccharide antigens]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref> The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref> About 30% of platelets are sequestrated in the splenic tissue, spleen is the main site of storage of circulating platelels. <ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
[[Image:Spleen hyaloserositis - low mag.jpg|thumb|300px|Spleen- By Nephron - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=11054496]]<br />
[[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. [[Functional hyposplenism]] [[associated]] with [[celiac disease]] and [[inflammatory bowel disease]] leads to spleen’s [[reticuloendothelial atrophy]] due to loss of [[lymphocytes]] through the [[inflamed]] [[enteric mucosa]]. [[Hyposplenism]] in [[autoimmune disorders]] one of the major mechanisms could be [[reticuloendothelial]] [[block]] due to [[circulating]] [[immune complexes].<br />
In [[hematologic]] and [[neoplastic disorders]], it is probably due to [[splenic tissue]] [[infiltration]] by [[tumor cells]] or due to [[vascular occlusion]].<br />
[[Hyposplenism]] in [[hepatic disorders]], might be caused by [[disruption]] of normal [[hepatic]] [[microcirculation]] due to [[portal hypertension]]. In [[acute]] or [[chronic]] [[alcohol consumption]], [[direct]] [[toxic effect]] of [[alcohol]] is implied in all disorders.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==Genetics==<br />
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref><br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_classification&diff=1713360Asplenia classification2021-09-09T05:15:04Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}; {{AE}} {{Kalpana Giri}}<br />
<br />
==Overview==<br />
Asplenia may be classified into two groups based on its cause: congenital, acquired functional. Congenital asplenia includes isolated asplenia or heterotaxy syndrome.<br />
<br />
==Classification==<br />
Asplenia may be classified into two groups based on its cause:<ref name="pmid13322226">{{cite journal| author=MYERSON RM, KOELLE WA| title=Congenital absence of the spleen in an adult; report of a case associated with recurrent Waterhouse-Friderichsen syndrome. | journal=N Engl J Med | year= 1956 | volume= 254 | issue= 24 | pages= 1131-2 | pmid=13322226 | doi=10.1056/NEJM195606142542406 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13322226 }} </ref><ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
*[[Congenital]]: Isolated asplenia, heterotaxy syndrome.<br />
*[[Acquired]]: Functional asplenia.<br />
<br />
==References==<br />
{{Reflist|2}}<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_historical_perspective&diff=1713359Asplenia historical perspective2021-09-09T05:11:03Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
==Overview==<br />
Hippocrates made the first description of the [[gross anatomy]] of the [[spleen]] in 421 BC. In 1899, Chauffard described that increased [[splenic]] activity is linked to [[hemolysis]], and in 1910, Sutherland and Brughard performed the first [[therapeutic splenectomy]] in a patient with hereditary spherocytosis. In 1919, Morris and Bullock provided initial experimental evidence of the protective role of the [[spleen]] against [[infections]].<br />
<br />
==Historical Perspective==<br />
<br />
*In 421 BC, Hippocrates made the first description of the [[gross anatomy]] of the [[spleen]].<ref name="pmid17364987">{{cite journal| author=William BM, Corazza GR| title=Hyposplenism: a comprehensive review. Part I: basic concepts and causes. | journal=Hematology | year= 2007 | volume= 12 | issue= 1 | pages= 1-13 | pmid=17364987 | doi=10.1080/10245330600938422 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17364987 }} </ref><br />
*In 360 BC, Plato, described the [[spleen]] as been constructed "with a view of keeping the [[liver]] bright and pure.<br />
*In 1899, Chauffard described that increased [[splenic]] activity is linked to [[hemolysis]], and in 1910, Sutherland and Brughard performed the first [[therapeutic splenectomy]] in a patient with hereditary spherocytosis.<br />
*In 1913, Eppinger was the first to introduced the term [[hyposplenism]] to describe the [[post-splenectomy state]].<br />
*In 1916, Kaznelson performed [[therapeutic splenectomy]] in a patient with [[idiopathic thrombocytopenic purpura]].<br />
*In 1919, Morris and Bullock provided initial experimental evidence of the protective role of the [[spleen]] against [[infections]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
*In 1935, Diggs provide a [[histological]] description of the [[spleen]] in [[sickle cell anemia]].<ref name="pmid17364987">{{cite journal| author=William BM, Corazza GR| title=Hyposplenism: a comprehensive review. Part I: basic concepts and causes. | journal=Hematology | year= 2007 | volume= 12 | issue= 1 | pages= 1-13 | pmid=17364987 | doi=10.1080/10245330600938422 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17364987 }} </ref><br />
*In 1952, King and Schumacker reported a series of cases of overwhelming [[post-splenectomy]] [[infections]] (OPSI) caused by [[encapsulated bacteria]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
*In 1955, Rowley has demonstrated that [[splenectomized]] human beings fail to respond with a significant rise in [[antibody]] [[titer]] when an [[antigen]] is given intravenously.<ref name="pmid1228266">{{cite journal| author=Fachet J, Foris G| title=Enodotoxin-induced non-specific resistance to Trypanosoma equiperdum in neonatally thymectomized or splenectomized Wistar rats. | journal=Keio J Med | year= 1975 | volume= 24 | issue= 4 | pages= 347-53 | pmid=1228266 | doi=10.2302/kjm.24.347 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1228266 }} </ref><br />
*In 1955, Dameshek coined the term [[hyposplenism]] to describe a patient with [[celiac disease]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
*In 1969, Pearson et al, from USA, was the first to [[discover]] the term [[functional hypoplasia]], a few decades ago when he identified some children suffering from [[sickle cell disease]], who presented with the same clinical course as in [[splenectomised]] patients.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_historical_perspective&diff=1713358Asplenia historical perspective2021-09-09T05:10:29Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}} {{AE}} {{Kalpana Giri}}<br />
==Overview==<br />
Hippocrates made the first description of the [[gross anatomy]] of the [[spleen]] in 421 BC. In 1899, Chauffard described that increased [[splenic]] activity is linked to [[hemolysis]], and in 1910, Sutherland and Brughard performed the first [[therapeutic splenectomy]] in a patient with hereditary spherocytosis. In 1919, Morris and Bullock provided initial experimental evidence of the protective role of the [[spleen]] against [[infections]].<br />
<br />
==Historical Perspective==<br />
<br />
*In 421 BC, Hippocrates made the first description of the [[gross anatomy]] of the [[spleen]].<ref name="pmid17364987">{{cite journal| author=William BM, Corazza GR| title=Hyposplenism: a comprehensive review. Part I: basic concepts and causes. | journal=Hematology | year= 2007 | volume= 12 | issue= 1 | pages= 1-13 | pmid=17364987 | doi=10.1080/10245330600938422 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17364987 }} </ref><br />
*In 360 BC, Plato, described the [[spleen]] as been constructed "with a view of keeping the [[liver]] bright and pure.<br />
*In 1899, Chauffard described that increased [[splenic]] activity is linked to [[hemolysis]], and in 1910, Sutherland and Brughard performed the first [[therapeutic splenectomy]] in a patient with hereditary spherocytosis.<br />
*In 1913, Eppinger was the first to introduced the term [[hyposplenism]] to describe the [[post-splenectomy state]].<br />
*In 1916, Kaznelson performed [[therapeutic splenectomy]] in a patient with [[idiopathic thrombocytopenic purpura]].<br />
*In 1919, Morris and Bullock provided initial experimental evidence of the protective role of the [[spleen]] against [[infections]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
*In 1935, Diggs provide a [[histological]] description of the [[spleen]] in [[sickle cell anemia]].<ref name="pmid17364987">{{cite journal| author=William BM, Corazza GR| title=Hyposplenism: a comprehensive review. Part I: basic concepts and causes. | journal=Hematology | year= 2007 | volume= 12 | issue= 1 | pages= 1-13 | pmid=17364987 | doi=10.1080/10245330600938422 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17364987 }} </ref><br />
*In 1952, King and Schumacker reported a series of cases of overwhelming [[post-splenectomy]] [[infections]] (OPSI) caused by [[encapsulated bacteria]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
*In 1955, Rowley has demonstrated that [[splenectomized]] human beings fail to respond with a significant rise in [[antibody]] [[titer]] when an [[antigen]] is given intravenously.<ref name="pmid1228266">{{cite journal| author=Fachet J, Foris G| title=Enodotoxin-induced non-specific resistance to Trypanosoma equiperdum in neonatally thymectomized or splenectomized Wistar rats. | journal=Keio J Med | year= 1975 | volume= 24 | issue= 4 | pages= 347-53 | pmid=1228266 | doi=10.2302/kjm.24.347 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1228266 }} </ref><br />
*In 1955, Dameshek coined the term [[hyposplenism]] to describe a patient with [[celiac disease]].<ref name="pmid21474172">{{cite journal| author=Di Sabatino A, Carsetti R, Corazza GR| title=Post-splenectomy and hyposplenic states. | journal=Lancet | year= 2011 | volume= 378 | issue= 9785 | pages= 86-97 | pmid=21474172 | doi=10.1016/S0140-6736(10)61493-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21474172 }} </ref><br />
*In 1969, Pearson et al, from USA, was the first to [[discover]] the term [[functional hypoplasia]], a few decades ago when he identified some children suffering from [[sickle cell disease]], who presented with the same clinical course as in [[splenectomised]] patients.<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia&diff=1713354Asplenia2021-09-09T04:39:54Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}{{AE}} {{Kalpana Giri}} <br />
<br />
{{SK}} <br />
<br />
==[[Asplenia overview|Overview]]==<br />
<br />
==[[Asplenia historical perspective|Historical Perspective]]==<br />
<br />
==[[Asplenia classification|Classification]]==<br />
<br />
==[[Asplenia pathophysiology|Pathophysiology]]==<br />
<br />
==[[Asplenia causes|Causes]]==<br />
<br />
==[[Asplenia differential diagnosis|Differentiating Asplenia from other Diseases]]==<br />
<br />
==[[Asplenia epidemiology and demographics|Epidemiology and Demographics]]==<br />
<br />
==[[Asplenia risk factors|Risk Factors]]==<br />
<br />
==[[Asplenia screening|Screening]]==<br />
<br />
==[[Asplenia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==<br />
<br />
==Diagnosis==<br />
[[Asplenia diagnostic study of choice|Diagnostic study of choice]] | [[Asplenia history and symptoms|History and Symptoms]] | [[Asplenia physical examination|Physical Examination]] | [[Asplenia laboratory findings|Laboratory Findings]] | [[Asplenia electrocardiogram|Electrocardiogram]] | [[Asplenia x ray|X-Ray Findings]] | [[Asplenia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Asplenia CT scan|CT-Scan Findings]] | [[Asplenia MRI|MRI Findings]] | [[Asplenia other imaging findings|Other Imaging Findings]] | [[Asplenia other diagnostic studies|Other Diagnostic Studies]]<br />
<br />
==Treatment==<br />
[[Asplenia medical treatment|Medical Therapy]] | [[TAsplenia surgical techniques|Surgery]] | [[Asplenia primary prevention|Primary Prevention]] | [[Asplenia secondary prevention|Secondary Prevention]] | [[Asplenia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Asplenia future or investigational therapies|Future or Investigational Therapies]]<br />
<br />
==Case Studies==<br />
[[Asplenia case study one|Case #1]]<br />
<br />
{{WikiDoc Help Menu}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia&diff=1713353Asplenia2021-09-09T04:39:32Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}{{AE}} {{Kalpana Giri}} <br />
<br />
{{SK}} <br />
<br />
==[[Asplenia overview|Overview]]==<br />
<br />
==[[Asplenia historical perspective|Historical Perspective]]==<br />
<br />
==[[Asplenia classification|Classification]]==<br />
<br />
==[[Asplenia pathophysiology|Pathophysiology]]==<br />
<br />
==[[Asplenia causes|Causes]]==<br />
<br />
==[[Asplenia differential diagnosis|Differentiating Asplenia from other Diseases]]==<br />
<br />
==[[Asplenia epidemiology and demographics|Epidemiology and Demographics]]==<br />
<br />
==[[Asplenia risk factors|Risk Factors]]==<br />
<br />
==[[Asplenia screening|Screening]]==<br />
<br />
==[[Asplenia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==<br />
<br />
==Diagnosis==<br />
[[Asplenia diagnostic study of choice|Diagnostic study of choice]] | [[Asplenia history and symptoms|History and Symptoms]] | [[Asplenia physical examination|Physical Examination]] | [[Asplenia laboratory findings|Laboratory Findings]] | [[Asplenia electrocardiogram|Electrocardiogram]] | [[Asplenia x ray|X-Ray Findings]] | [[Asplenia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Asplenia CT scan|CT-Scan Findings]] | [[Asplenia MRI|MRI Findings]] | [[Asplenia other imaging findings|Other Imaging Findings]] | [[Asplenia other diagnostic studies|Other Diagnostic Studies]]<br />
<br />
==Treatment==<br />
[[Asplenia medical treatment|Medical Therapy]] | [[TAsplenia surgical techniques|Surgery]] | [[Asplenia primary prevention|Primary Prevention]] | [[Asplenia secondary prevention|Secondary Prevention]] | [[Asplenia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Asplenia future or investigational therapies|Future or Investigational Therapies]]<br />
<br />
==Case Studies==<br />
[[Asplenia case study one|Case #1]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia&diff=1713350Asplenia2021-09-09T04:21:43Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
{{CMG}}{{AE}} {{Kalpana Giri}} <br />
<br />
{{SK}} <br />
<br />
==[[Asplenia overview|Overview]]==<br />
<br />
==[[Asplenia historical perspective|Historical Perspective]]==<br />
<br />
==[[Asplenia classification|Classification]]==<br />
<br />
==[[Asplenia pathophysiology|Pathophysiology]]==<br />
<br />
==[[Asplenia causes|Causes]]==<br />
<br />
==[[Asplenia differential diagnosis|Differentiating Asplenia from other Diseases]]==<br />
<br />
==[[Asplenia epidemiology and demographics|Epidemiology and Demographics]]==<br />
<br />
==[[Asplenia risk factors|Risk Factors]]==<br />
<br />
==[[Asplenia screening|Screening]]==<br />
<br />
==[[Asplenia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==<br />
<br />
==Diagnosis==<br />
[[Asplenia diagnostic study of choice|Diagnostic study of choice]] | [[Asplenia history and symptoms|History and Symptoms]] | [[Asplenia physical examination|Physical Examination]] | [[Asplenia laboratory findings|Laboratory Findings]] | [[Asplenia electrocardiogram|Electrocardiogram]] | [[Asplenia x ray|X-Ray Findings]] | [[Asplenia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Asplenia CT scan|CT-Scan Findings]] | [[Asplenia MRI|MRI Findings]] | [[Asplenia other imaging findings|Other Imaging Findings]] | [[Asplenia other diagnostic studies|Other Diagnostic Studies]]<br />
<br />
==Treatment==<br />
[[Asplenia medical treatment|Medical Therapy]] | [[TAsplenia surgical techniques|Surgery]] | [[Asplenia primary prevention|Primary Prevention]] | [[Asplenia secondary prevention|Secondary Prevention]] | [[Asplenia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Asplenia future or investigational therapies|Future or Investigational Therapies]]<br />
<br />
==Case Studies==<br />
[[Asplenia case study one|Case #1]]<br />
<br />
{{Hematology}}<br />
{{Phakomatoses and other congenital malformations not elsewhere classified}}<br />
<br />
<br />
[[de:Asplenie]]<br />
[[nl:Asplenie]]<br />
[[fi:Asplenia]]<br />
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{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
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[[Category:Medicine]]<br />
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[[Category:Hematology]]<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_natural_history,_complications_and_prognosis&diff=1710418Asplenia natural history, complications and prognosis2021-08-05T14:06:38Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
<br />
{{CMG}}; {{AE}} {{Kalpana Giri}} <br />
<br />
==Overview==<br />
If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]]. Common complications including [[overwhelming post-splenectomy infection (OPSI)]], [[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]], [[Arterial]] and [[Venous thrombosis]], [[Waterhouse-Friedrichsen syndrome]]. Less common complications include: [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]]. Prognosis of asplenia is [[poor]].<br />
<br />
==Natural History, Complications, and Prognosis==<br />
===Natural History===<br />
*If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Patients with [[functional asplenia]] and [[hyposplenia]] who have not [[undergone]] a [[splenectomy]] can present with a [[life-threatening]] [[infection]] [[comparable]] to an [[OPSI]].<br />
*[[Overwhelming post-splenectomy infection]] (OPSI) occurs in [[5%]] of [[patients]] and has a [[mortality rate]] of [[38%–70%]].<br />
*Functional asplenia is most common in [[sickle cell disease]] and [[occurs]] within the [[first 3-5 years]] of [[life]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
===Complications===<br />
'''Common complications'''<br />
*Recurrent infections<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*[[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]]<br />
*[[Waterhouse-Friedrichsen syndrome]] and [[Purpura fulminans]] <ref name="pmid27583208">{{cite journal| author=Hale AJ, LaSalvia M, Kirby JE, Kimball A, Baden R| title=Fatal purpura fulminans and Waterhouse-Friderichsen syndrome from fulminant Streptococcus pneumoniae sepsis in an asplenic young adult. | journal=IDCases | year= 2016 | volume= 6 | issue= | pages= 1-4 | pmid=27583208 | doi=10.1016/j.idcr.2016.08.004 | pmc=4995527 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27583208 }} </ref><br />
*[[Arterial thrombosis]] and [[coronary artery disease]] <ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
*[[Venous thrombosis]] such as [[deep vein thrombosis]], [[pulmonary embolism]], [[splenic]] and [[portal vein thrombosis]]<br />
*[[Pulmonary hypertension]], [[associated]] with [[right ventricular dysfunction]].<br />
<br />
'''Less Common complications'''<br />
*Patients with [[asplenia]] are also at risk for less common [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref><br />
<br />
===Prognosis===<br />
*Prognosis of asplenia is [[poor]], if asplenic patients are not diagnosed on time, and do not receive proper [[vaccination]]. These patients are at [[high risk]] of [[infection]] leads to [[sepsis]], [[septic shock]], and [[death]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Huebner and colleagues, in One case report provides evidence of the [[poor]] [[prognosis]] in [[asplenic]] patients who present with infection despite receiving standard medical care.<ref name="pmid26130882">{{cite journal| author=Huebner ML, Milota KA| title=Asplenia and fever. | journal=Proc (Bayl Univ Med Cent) | year= 2015 | volume= 28 | issue= 3 | pages= 340-1 | pmid=26130882 | doi=10.1080/08998280.2015.11929267 | pmc=4462215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26130882 }} </ref><br />
*In [[Right isomerism]] (Ivemark syndrome) [[Prognosis]] is Poor, 80 % die within first year.<ref name="pmid22470785">{{cite journal| author=Agarwal H, Mittal SK, Kulkarni CD, Verma AK, Srivastava SK| title=Right isomerism with complex cardiac anomalies presenting with dysphagia--a case report. | journal=J Radiol Case Rep | year= 2011 | volume= 5 | issue= 4 | pages= 1-9 | pmid=22470785 | doi=10.3941/jrcr.v5i4.702 | pmc=3303439 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22470785 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_natural_history,_complications_and_prognosis&diff=1710417Asplenia natural history, complications and prognosis2021-08-05T14:05:50Z<p>Farima Kahe: /* Complications */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
<br />
{{CMG}}; {{AE}} {{Kalpana Giri}} <br />
<br />
==Overview==<br />
If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]]. Common complications include: [[overwhelming post-splenectomy infection (OPSI)]], [[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]], [[Arterial]] and [[Venous thrombosis]], [[Waterhouse-Friedrichsen syndrome]]. Less common complications include: [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]]. Prognosis of asplenia is [[poor]].<br />
<br />
==Natural History, Complications, and Prognosis==<br />
===Natural History===<br />
*If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Patients with [[functional asplenia]] and [[hyposplenia]] who have not [[undergone]] a [[splenectomy]] can present with a [[life-threatening]] [[infection]] [[comparable]] to an [[OPSI]].<br />
*[[Overwhelming post-splenectomy infection]] (OPSI) occurs in [[5%]] of [[patients]] and has a [[mortality rate]] of [[38%–70%]].<br />
*Functional asplenia is most common in [[sickle cell disease]] and [[occurs]] within the [[first 3-5 years]] of [[life]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
===Complications===<br />
'''Common complications'''<br />
*Recurrent infections<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*[[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]]<br />
*[[Waterhouse-Friedrichsen syndrome]] and [[Purpura fulminans]] <ref name="pmid27583208">{{cite journal| author=Hale AJ, LaSalvia M, Kirby JE, Kimball A, Baden R| title=Fatal purpura fulminans and Waterhouse-Friderichsen syndrome from fulminant Streptococcus pneumoniae sepsis in an asplenic young adult. | journal=IDCases | year= 2016 | volume= 6 | issue= | pages= 1-4 | pmid=27583208 | doi=10.1016/j.idcr.2016.08.004 | pmc=4995527 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27583208 }} </ref><br />
*[[Arterial thrombosis]] and [[coronary artery disease]] <ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
*[[Venous thrombosis]] such as [[deep vein thrombosis]], [[pulmonary embolism]], [[splenic]] and [[portal vein thrombosis]]<br />
*[[Pulmonary hypertension]], [[associated]] with [[right ventricular dysfunction]].<br />
<br />
'''Less Common complications'''<br />
*Patients with [[asplenia]] are also at risk for less common [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref><br />
<br />
===Prognosis===<br />
*Prognosis of asplenia is [[poor]], if asplenic patients are not diagnosed on time, and do not receive proper [[vaccination]]. These patients are at [[high risk]] of [[infection]] leads to [[sepsis]], [[septic shock]], and [[death]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Huebner and colleagues, in One case report provides evidence of the [[poor]] [[prognosis]] in [[asplenic]] patients who present with infection despite receiving standard medical care.<ref name="pmid26130882">{{cite journal| author=Huebner ML, Milota KA| title=Asplenia and fever. | journal=Proc (Bayl Univ Med Cent) | year= 2015 | volume= 28 | issue= 3 | pages= 340-1 | pmid=26130882 | doi=10.1080/08998280.2015.11929267 | pmc=4462215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26130882 }} </ref><br />
*In [[Right isomerism]] (Ivemark syndrome) [[Prognosis]] is Poor, 80 % die within first year.<ref name="pmid22470785">{{cite journal| author=Agarwal H, Mittal SK, Kulkarni CD, Verma AK, Srivastava SK| title=Right isomerism with complex cardiac anomalies presenting with dysphagia--a case report. | journal=J Radiol Case Rep | year= 2011 | volume= 5 | issue= 4 | pages= 1-9 | pmid=22470785 | doi=10.3941/jrcr.v5i4.702 | pmc=3303439 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22470785 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_natural_history,_complications_and_prognosis&diff=1710416Asplenia natural history, complications and prognosis2021-08-05T14:04:45Z<p>Farima Kahe: /* Complications */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
<br />
{{CMG}}; {{AE}} {{Kalpana Giri}} <br />
<br />
==Overview==<br />
If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]]. Common complications include: [[overwhelming post-splenectomy infection (OPSI)]], [[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]], [[Arterial]] and [[Venous thrombosis]], [[Waterhouse-Friedrichsen syndrome]]. Less common complications include: [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]]. Prognosis of asplenia is [[poor]].<br />
<br />
==Natural History, Complications, and Prognosis==<br />
===Natural History===<br />
*If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Patients with [[functional asplenia]] and [[hyposplenia]] who have not [[undergone]] a [[splenectomy]] can present with a [[life-threatening]] [[infection]] [[comparable]] to an [[OPSI]].<br />
*[[Overwhelming post-splenectomy infection]] (OPSI) occurs in [[5%]] of [[patients]] and has a [[mortality rate]] of [[38%–70%]].<br />
*Functional asplenia is most common in [[sickle cell disease]] and [[occurs]] within the [[first 3-5 years]] of [[life]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
===Complications===<br />
'''Common complications'''<br />
*[[overwhelming post-splenectomy infection (OPSI)]]<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*[[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]]<br />
*[[Waterhouse-Friedrichsen syndrome]] and [[Purpura fulminans]] <ref name="pmid27583208">{{cite journal| author=Hale AJ, LaSalvia M, Kirby JE, Kimball A, Baden R| title=Fatal purpura fulminans and Waterhouse-Friderichsen syndrome from fulminant Streptococcus pneumoniae sepsis in an asplenic young adult. | journal=IDCases | year= 2016 | volume= 6 | issue= | pages= 1-4 | pmid=27583208 | doi=10.1016/j.idcr.2016.08.004 | pmc=4995527 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27583208 }} </ref><br />
*[[Arterial thrombosis]] and [[coronary artery disease]] <ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
*[[Venous thrombosis]] such as [[deep vein thrombosis]], [[pulmonary embolism]], [[splenic]] and [[portal vein thrombosis]]<br />
*[[Pulmonary hypertension]], [[associated]] with [[right ventricular dysfunction]].<br />
<br />
'''Less Common complications'''<br />
*Patients with [[asplenia]] are also at risk for less common [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref><br />
<br />
===Prognosis===<br />
*Prognosis of asplenia is [[poor]], if asplenic patients are not diagnosed on time, and do not receive proper [[vaccination]]. These patients are at [[high risk]] of [[infection]] leads to [[sepsis]], [[septic shock]], and [[death]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Huebner and colleagues, in One case report provides evidence of the [[poor]] [[prognosis]] in [[asplenic]] patients who present with infection despite receiving standard medical care.<ref name="pmid26130882">{{cite journal| author=Huebner ML, Milota KA| title=Asplenia and fever. | journal=Proc (Bayl Univ Med Cent) | year= 2015 | volume= 28 | issue= 3 | pages= 340-1 | pmid=26130882 | doi=10.1080/08998280.2015.11929267 | pmc=4462215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26130882 }} </ref><br />
*In [[Right isomerism]] (Ivemark syndrome) [[Prognosis]] is Poor, 80 % die within first year.<ref name="pmid22470785">{{cite journal| author=Agarwal H, Mittal SK, Kulkarni CD, Verma AK, Srivastava SK| title=Right isomerism with complex cardiac anomalies presenting with dysphagia--a case report. | journal=J Radiol Case Rep | year= 2011 | volume= 5 | issue= 4 | pages= 1-9 | pmid=22470785 | doi=10.3941/jrcr.v5i4.702 | pmc=3303439 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22470785 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Asplenia_natural_history,_complications_and_prognosis&diff=1710415Asplenia natural history, complications and prognosis2021-08-05T14:00:00Z<p>Farima Kahe: /* Complications */</p>
<hr />
<div>__NOTOC__<br />
{{Asplenia}}<br />
<br />
{{CMG}}; {{AE}} {{Kalpana Giri}} <br />
<br />
==Overview==<br />
If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]]. Common complications include: [[overwhelming post-splenectomy infection (OPSI)]], [[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]], [[Arterial]] and [[Venous thrombosis]], [[Waterhouse-Friedrichsen syndrome]]. Less common complications include: [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]]. Prognosis of asplenia is [[poor]].<br />
<br />
==Natural History, Complications, and Prognosis==<br />
===Natural History===<br />
*If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Patients with [[functional asplenia]] and [[hyposplenia]] who have not [[undergone]] a [[splenectomy]] can present with a [[life-threatening]] [[infection]] [[comparable]] to an [[OPSI]].<br />
*[[Overwhelming post-splenectomy infection]] (OPSI) occurs in [[5%]] of [[patients]] and has a [[mortality rate]] of [[38%–70%]].<br />
*Functional asplenia is most common in [[sickle cell disease]] and [[occurs]] within the [[first 3-5 years]] of [[life]].<ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
<br />
===Complications===<br />
'''Common complications'''<br />
*[[overwhelming post-splenectomy infection (OPSI)]]<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*[[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]]<br />
*[[Waterhouse-Friedrichsen syndrome]] and [[Purpura fulminans]] <ref name="pmid27583208">{{cite journal| author=Hale AJ, LaSalvia M, Kirby JE, Kimball A, Baden R| title=Fatal purpura fulminans and Waterhouse-Friderichsen syndrome from fulminant Streptococcus pneumoniae sepsis in an asplenic young adult. | journal=IDCases | year= 2016 | volume= 6 | issue= | pages= 1-4 | pmid=27583208 | doi=10.1016/j.idcr.2016.08.004 | pmc=4995527 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27583208 }} </ref><br />
*[[Arterial thrombosis]]: includes [[coronary artery disease]] <ref name="pmid32247651">{{cite journal| author=Long B, Koyfman A, Gottlieb M| title=Complications in the adult asplenic patient: A review for the emergency clinician. | journal=Am J Emerg Med | year= 2021 | volume= 44 | issue= | pages= 452-457 | pmid=32247651 | doi=10.1016/j.ajem.2020.03.049 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32247651 }} </ref><br />
*[[Venous thrombosis]]: includes [[deep vein thrombosis]], [[pulmonary embolism]], [[splenic]] and [[portal vein thrombosis]]<br />
*[[Pulmonary hypertension]], [[associated]] with [[right ventricular dysfunction]].<br />
<br />
'''Less Common complications'''<br />
*Patients with [[asplenia]] are also at risk for less common [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]].<ref name="pmid33275684">{{cite journal| author=Lee GM| title=Preventing infections in children and adults with asplenia. | journal=Hematology Am Soc Hematol Educ Program | year= 2020 | volume= 2020 | issue= 1 | pages= 328-335 | pmid=33275684 | doi=10.1182/hematology.2020000117 | pmc=7727556 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33275684 }} </ref><br />
<br />
===Prognosis===<br />
*Prognosis of asplenia is [[poor]], if asplenic patients are not diagnosed on time, and do not receive proper [[vaccination]]. These patients are at [[high risk]] of [[infection]] leads to [[sepsis]], [[septic shock]], and [[death]].<ref name="pmid25125944">{{cite journal| author=Kirkineska L, Perifanis V, Vasiliadis T| title=Functional hyposplenism. | journal=Hippokratia | year= 2014 | volume= 18 | issue= 1 | pages= 7-11 | pmid=25125944 | doi= | pmc=4103047 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25125944 }} </ref><br />
*Huebner and colleagues, in One case report provides evidence of the [[poor]] [[prognosis]] in [[asplenic]] patients who present with infection despite receiving standard medical care.<ref name="pmid26130882">{{cite journal| author=Huebner ML, Milota KA| title=Asplenia and fever. | journal=Proc (Bayl Univ Med Cent) | year= 2015 | volume= 28 | issue= 3 | pages= 340-1 | pmid=26130882 | doi=10.1080/08998280.2015.11929267 | pmc=4462215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26130882 }} </ref><br />
*In [[Right isomerism]] (Ivemark syndrome) [[Prognosis]] is Poor, 80 % die within first year.<ref name="pmid22470785">{{cite journal| author=Agarwal H, Mittal SK, Kulkarni CD, Verma AK, Srivastava SK| title=Right isomerism with complex cardiac anomalies presenting with dysphagia--a case report. | journal=J Radiol Case Rep | year= 2011 | volume= 5 | issue= 4 | pages= 1-9 | pmid=22470785 | doi=10.3941/jrcr.v5i4.702 | pmc=3303439 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22470785 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
<br />
[[Category:Medicine]]<br />
[[Category:Oncology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Immunology]]<br />
[[Category:Hematology]]<br />
[[Category:Emergency medicine]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Sandbox:_Qiming&diff=1707990Sandbox: Qiming2021-07-21T15:24:13Z<p>Farima Kahe: Created blank page</p>
<hr />
<div></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Toxic_megacolon_differential_diagnosis&diff=1706714Toxic megacolon differential diagnosis2021-07-14T04:12:45Z<p>Farima Kahe: </p>
<hr />
<div>==Differentiating Toxic Megacolon from other Diseases==<br />
*Toxic megacolon must be differentiated from other diseases that cause [[abdominal pain]], [[fever]],[[diarrhea]] such as [[acute appendicitis]], [[acute diverticulitis]], [[inflammatory bowel disease]], [[whipple's disease]], [[tropical sprue]], [[infective colitis]], [[viral hepatitis]] ([[hepatitis A]] and [[hepatitis E]]), [[liver abscess]], [[spontaneous bacterial peritonitis]], [[mesenteric ischemia]], and [[Acute (medicine)|acute]] [[ischemic colitis]].<br />
<br />
===Preferred Table===<br />
<span style="font-size:85%">'''Abbreviations:'''<br />
'''[[RUQ]]'''= Right upper quadrant of the abdomen, '''LUQ'''= Left upper quadrant, '''LLQ'''= Left lower quadrant, '''RLQ'''= Right lower quadrant, '''LFT'''= Liver function test, SIRS= [[Systemic inflammatory response syndrome]], '''[[ERCP]]'''= [[Endoscopic retrograde cholangiopancreatography]], '''IV'''= Intravenous, '''N'''= Normal, '''AMA'''= Anti mitochondrial antibodies, '''[[LDH]]'''= [[Lactate dehydrogenase]], '''GI'''= Gastrointestinal, '''CXR'''= Chest X ray, '''IgA'''= [[Immunoglobulin A]], '''IgG'''= [[Immunoglobulin G]], '''IgM'''= [[Immunoglobulin M]], '''CT'''= [[Computed tomography]], '''[[PMN]]'''= Polymorphonuclear cells, '''[[ESR]]'''= [[Erythrocyte sedimentation rate]], '''[[CRP]]'''= [[C-reactive protein]], TS= [[Transferrin saturation]], SF= Serum [[Ferritin]], SMA= [[Superior mesenteric artery]], SMV= [[Superior mesenteric vein]], ECG= [[Electrocardiogram]]</span><br />
<br />
{| align="center"<br />
|-<br />
|<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Disease<br />
| colspan="13" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |'''Clinical manifestations'''<br />
! colspan="2" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Diagnosis<br />
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Comments<br />
|-<br />
| colspan="9" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |'''Symptoms'''<br />
! colspan="4" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Signs<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Abdominal Pain<br />
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Fever <br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rigors and chills<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Nausea or vomiting<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice <br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Constipation<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Diarrhea<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Weight loss<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |GI bleeding<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Hypo-<br />
tension<br />
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Guarding<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rebound Tenderness<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Bowel sounds<br />
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Lab Findings<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Imaging<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Toxic megacolon|'''Toxic megacolon''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hypoactive<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Anemia]]<br />
*[[Leukocytosis]] especially in patients with [[Clostridium difficile infection|''Clostridium difficile'' infection]]<br />
*[[Hypoalbuminemia]]<br />
*[[Metabolic alkalosis]] associated with a poor [[prognosis]]<br />
*[[Metabolic acidosis]] secondary to [[ischemic colitis]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |CT and [[Ultrasound]] shows:<br />
*Loss of colonic haustration <br />
*Hypoechoic and thickened bowel walls with irregular internal margins in the [[sigmoid]] and descending colon<br />
*Prominent dilation of the transverse colon (>6 cm)<br />
* Insignificant dilation of ileal bowel loops (diameter >18 mm) with increased intraluminal gas and fluid<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
|-<br />
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Acute appendicitis|'''Acute appendicitis''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Starts in [[epigastrium]], migrates to RLQ<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in pyogenic appendicitis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |−<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |−<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in perforated appendicitis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hypoactive<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Leukocytosis]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Ct scan <br />
* Ultrasound<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Positive Rovsing sign<br />
* Positive Obturator sign<br />
* Positive Iliopsoas sign<br />
|-<br />
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Diverticulitis|'''Acute diverticulitis''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |LLQ<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |−<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in perforated diverticulitis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hypoactive<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Leukocytosis]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* CT scan <br />
* Ultrasound <br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* History of [[constipation]]<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Inflammatory bowel disease|'''Inflammatory bowel disease''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Normal or hyperactive<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Anti-neutrophil cytoplasmic antibody]] ([[P-ANCA]]) in [[Ulcerative colitis]]<br />
* [[Anti saccharomyces cerevisiae antibodies]] (ASCA) in [[Crohn's disease]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[String sign]] on [[abdominal x-ray]] in [[Crohn's disease]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
Extra intestinal findings:<br />
* [[Uveitis]]<br />
* [[Arthritis]]<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Whipple's disease|'''Whipple's disease''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Thrombocytopenia]]<br />
* [[Hypoalbuminemia]]<br />
* [[Small intestinal]] [[biopsy]] for [[Tropheryma whipplei]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |[[Whipple's disease other diagnostic studies|Endoscopy]] is used to confirm diagnosis.<br />
Images used to find complications<br />
*[[Whipple's disease x ray|Chest and joint x-ray]]<br />
*[[Whipple's disease CT|CT]]<br />
*[[Whipple's disease MRI|MRI]]<br />
*[[Whipple's disease ultrasound|Echocardiography]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Extra intestinal findings:<br />
* [[Uveitis]]<br />
* [[Endocarditis]]<br />
* [[Encephalitis]]<br />
* [[Dementia]]<br />
* [[Hepatosplenomegaly]]<br />
* [[Arthritis]]<br />
* [[Ascites]]<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |'''Disease'''<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Abdominal Pain<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Fever<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rigors and chills<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Nausea or vomiting<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Constipation<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Diarrhea<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Weight loss<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |GI bleeding<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Hypo-<br />
tension<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Guarding<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rebound Tenderness<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Bowel sounds<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Lab Findings<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Imaging<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Comments<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Tropical sprue|'''Tropical sprue''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Fat soluble vitamin deficiency<br />
* [[Hypoalbuminemia]]<br />
* Fecal stool test<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Barium studies: <br />
* Dilation and edema of mucosal folds<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Steatorrhea]]- 10-40 g/day (Normal=5 g/day)<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Infective colitis|'''Infective colitis''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in fulminant colitis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive <br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Stool culture]] and studies<br />
* Shiga toxin in bloody diarrhea<br />
* [[PCR]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |CT scan <br />
* Bowel wall thickening<br />
* Edema<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |'''Disease'''<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Abdominal Pain<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Fever<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rigors and chills<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Nausea or vomiting<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Constipation<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Diarrhea<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Weight loss<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |GI bleeding<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Hypo-<br />
tension<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Guarding<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rebound Tenderness<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Bowel sounds<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Lab Findings<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Imaging<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" |Comments<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hepatitis|'''Viral hepatitis''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[RUQ]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in Hep A and E<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in fulminant hepatitis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in acute<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Abnormal LFTs<br />
* Viral serology<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* US<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Hep A and E have fecal-oral route of transmission <br />
* Hep B and C transmits via blood transfusion and sexual contact.<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Liver abscess|'''Liver abscess''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |RUQ<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Normal or hypoactive<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* CBC<br />
* Blood cultures<br />
* Abnormal [[Liver function test|liver function tests]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* US<br />
* CT<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
|-<br />
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Spontaneous bacterial peritonitis|'''Spontaneous bacterial peritonitis''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in cirrhotic patients<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hypoactive<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Ascitic fluid [[PMN]]>250 cells/mm<small>³</small><br />
* Culture: Positive for single organism <br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Ultrasound for evaluation of liver cirrhosis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Mesenteric ischemia|'''Mesenteric ischemia''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Periumbilical<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive if bowel becomes gangrenous<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if bowel becomes gangrenous<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if bowel becomes gangrenous<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive to absent<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Leukocytosis]] and [[lactic acidosis]]<br />
* [[Amylase]] levels<br />
* [[D-dimer]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |CT angiography<br />
* SMA or SMV thrombosis<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* Also known as abdominal angina that worsens with eating<br />
|-<br />
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Ischemic colitis|'''Acute ischemic colitis''']]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Diffuse<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki><br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive then absent<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* [[Leukocytosis]]<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |[[Abdominal x-ray]]<br />
* Distension and pneumatosis<br />
CT scan<br />
* Double halo appearance, thumbprinting <br />
* Thickening of bowel<br />
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |<br />
* May lead to shock<br />
|-<br />
|}<br />
|}</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Toxic_megacolon_differential_diagnosis&diff=1706679Toxic megacolon differential diagnosis2021-07-13T16:31:19Z<p>Farima Kahe: /* Differentiating Toxic Megacolon from other Diseases */</p>
<hr />
<div>__NOTOC__<br />
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Toxic_megacolon]]<br />
{{CMG}}; {{AE}} {{F.K}}<br />
<br />
==Overview==<br />
*Toxic megacolon must be differentiated from other diseases that cause [[abdominal pain]], [[fever]],[[diarrhea]] such as [[acute appendicitis]], [[acute diverticulitis]], [[inflammatory bowel disease]], [[whipple's disease]], [[tropical sprue]], [[infective colitis]], [[viral hepatitis]] ([[hepatitis A]] and [[hepatitis E]]), [[liver abscess]], [[spontaneous bacterial peritonitis]], [[mesenteric ischemia]], and [[Acute (medicine)|acute]] [[ischemic colitis]].<br />
<br />
==Differentiating Toxic Megacolon from other Diseases==<br />
*Toxic megacolon must be differentiated from other diseases that cause [[abdominal pain]], [[fever]],[[diarrhea]] such as [[acute appendicitis]], [[acute diverticulitis]], [[inflammatory bowel disease]], [[whipple's disease]], [[tropical sprue]], [[infective colitis]], [[viral hepatitis]] ([[hepatitis A]] and [[hepatitis E]]), [[liver abscess]], [[spontaneous bacterial peritonitis]], [[mesenteric ischemia]], and [[Acute (medicine)|acute]] [[ischemic colitis]].<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
[[Category: (name of the system)]]</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Sandbox:rupashi&diff=1703472Sandbox:rupashi2021-06-08T16:48:32Z<p>Farima Kahe: Created blank page</p>
<hr />
<div></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702736Fetal hydantoin syndrome2021-06-01T05:31:09Z<p>Farima Kahe: /* Epidemiology and Demographics */</p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin syndrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. Fetal hydantoin syndrome must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown. The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended. Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion|pericardial effusion]]. Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin syndrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease|Robinson's disease.]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown. The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]] (Dilantin).<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], p[[Pseudohyperphalangism|seudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <br />
[[image:Ventricular-septal-defect.jpg|enframed|right|400px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br style="clear:left" /><br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum. [[dilated right/left heart]] with [[peri- cardial effusion|pericardial effusion]] <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing serum level of PHT and supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, [[folate]], and α‐fetoprotein ([[AFP]]) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with [[ultrasonography]]<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702735Fetal hydantoin syndrome2021-06-01T05:21:05Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin syndrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. Fetal hydantoin syndrome must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown. The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended. Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion|pericardial effusion]]. Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin syndrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease|Robinson's disease.]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown. The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]] (Dilantin).<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], p[[Pseudohyperphalangism|seudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <br />
[[image:Ventricular-septal-defect.jpg|enframed|right|400px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br style="clear:left" /><br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum. [[dilated right/left heart]] with [[peri- cardial effusion|pericardial effusion]] <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing serum level of PHT and supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, [[folate]], and α‐fetoprotein ([[AFP]]) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with [[ultrasonography]]<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702734Fetal hydantoin syndrome2021-06-01T05:13:13Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin syndrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. Fetal hydantoin syndrome must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown. The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended. Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion|pericardial effusion]]. Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin syndrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease|Robinson's disease.]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown. The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]] (Dilantin).<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], p[[Pseudohyperphalangism|seudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <br />
[[image:Ventricular-septal-defect.jpg|enframed|right|400px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br style="clear:left" /><br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum. [[dilated right/left heart]] with [[peri- cardial effusion|pericardial effusion]] <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing serum level of PHT and supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, [[folate]], and α‐fetoprotein ([[AFP]]) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with [[ultrasonography]]<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702733Fetal hydantoin syndrome2021-06-01T05:10:52Z<p>Farima Kahe: /* X Ray */</p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease|Robinson's disease.]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]] (Dilantin).<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <br />
[[image:Ventricular-septal-defect.jpg|enframed|right|400px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br style="clear:left" /><br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum. [[dilated right/left heart]] with [[peri- cardial effusion]] <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing serum level of PHT and supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, [[folate]], and α‐fetoprotein ([[AFP]]) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with [[ultrasonography]]<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702732Fetal hydantoin syndrome2021-06-01T05:08:32Z<p>Farima Kahe: </p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease|Robinson's disease.]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]] (Dilantin).<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. [[image:Ventricular-septal-defect.jpg|enframed|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum. [[dilated right/left heart]] with [[peri- cardial effusion]] <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing serum level of PHT and supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, [[folate]], and α‐fetoprotein ([[AFP]]) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with [[ultrasonography]]<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702103Fetal hydantoin syndrome2021-05-25T03:46:26Z<p>Farima Kahe: /* Prevention */</p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. [[image:Ventricular-septal-defect.jpg|enframed|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum. [[dilated right/left heart]] with [[peri- cardial effusion]] <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing serum level of PHT and supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, [[folate]], and α‐fetoprotein ([[AFP]]) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with [[ultrasonography]]<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702102Fetal hydantoin syndrome2021-05-25T03:44:40Z<p>Farima Kahe: /* Primary Prevention */</p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. [[image:Ventricular-septal-defect.jpg|enframed|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*Reducing PHT serum levels, supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702101Fetal hydantoin syndrome2021-05-25T03:43:44Z<p>Farima Kahe: /* Prevention */</p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973and Hanson and Smith in 1975.<br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.There is also an association with [[EPHX1]] has been suggested. Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[Media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[Media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[Media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[Media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. [[image:Ventricular-septal-defect.jpg|enframed|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the [[primary prevention]] of fetal hydantoin syndrome include:<br />
<br />
*Changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*Decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*Regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*Counseling with parents regarding the risk of pregnancy and malformations<br />
*Regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
<br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==<br />
<references /></div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1702100Fetal hydantoin syndrome2021-05-25T03:42:35Z<p>Farima Kahe: /* Secondary Prevention */</p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
<br />
{{CMG}}; {{AE}}<br />
<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1701239Fetal hydantoin syndrome2021-05-19T18:34:04Z<p>Farima Kahe: </p>
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==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal Hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1701238Fetal hydantoin syndrome2021-05-19T18:32:59Z<p>Farima Kahe: /* Special consideration when adding information from observational studies */</p>
<hr />
<div>==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal Hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1701237Fetal hydantoin syndrome2021-05-19T18:32:26Z<p>Farima Kahe: </p>
<hr />
<div>==Special consideration when adding information from observational studies==<br />
{| class="wikitable"<br />
|+<br />
!Template Sentence for Observational Study <br />
|-<br />
|“Among (number of/other important demographic information) patients in (location), (exposure) was associated with (outcome) in observational data” (REF)<br />
|-<br />
|Example:<br />
<br />
* Among '''459 adult male diabetic''' patients in the '''United States''', '''COVID-19''' exposure was associated with '''abdominal pain''' in observational data (REF)<br />
|}<br />
==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal Hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1701236Fetal hydantoin syndrome2021-05-19T18:30:09Z<p>Farima Kahe: /* Echocardiography */</p>
<hr />
<div>==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal Hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1701235Fetal hydantoin syndrome2021-05-19T18:29:42Z<p>Farima Kahe: /* Physical Examination */</p>
<hr />
<div>==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome sunch as [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of [[fetal hydantoin syndrome]]. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal Hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahehttps://www.wikidoc.org/index.php?title=Fetal_hydantoin_syndrome&diff=1701233Fetal hydantoin syndrome2021-05-19T18:28:45Z<p>Farima Kahe: /* Physical Examination */</p>
<hr />
<div>==Overview==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic [[clarified]] the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973 and Hanson and Smith in 1975. Fetal hydantoin syndrome, [[characterized]] by [[altered growth]] and [[development]], has been well [[described]] in recent years in the [[fetus]] of [[epileptic]] mothers taking [[phenytoin]] or other [[hydantoin]] [[anticonvulsants]] during the [[gestational]] period.<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref>It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy. There is also an [[association]] with [[EPHX1]] has been suggested. Although the exact [[pathogenesis]] of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible [[mechanisms]] have been proposed. Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]]. The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as pre and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb. Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]]. Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]]. [[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some similar [[facial features]] are also found in the [[Coffin-Siris]], [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]. The exact [[incidence]] and [[prevalence]] of the fetal hydantoin syndrome is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic]] women taking [[anticonvulsant]] drugs than in the [[general population]]. The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]]. The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]]. Fetal hydantoin syndrome affects males and females equally. Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin). There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]] anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death. Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems). The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]]. [[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum, [[dilated right/left heart]] with [[peri- cardial effusion]]. reatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<br />
<br />
==Historical Perspective==<br />
Fetal hydantoin syndrome was first [[discovered]] by Meadow et al. in 1968. Manson and Frederic clarified the [[teratogenic]] effects of [[hydantoin]] in their [[epidemiological]] studies in 1973<ref name="pmid9677735">{{cite journal| author=Ozkinay F, Yenigün A, Kantar M, Ozkinay C, Avanoğlu A, Ulman I| title=Two siblings with fetal hydantoin syndrome. | journal=Turk J Pediatr | year= 1998 | volume= 40 | issue= 2 | pages= 273-8 | pmid=9677735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9677735 }} </ref>and Hanson and Smith in 1975.<ref name="pmid25996397">{{cite journal| author=| title=Reorganized text. | journal=JAMA Otolaryngol Head Neck Surg | year= 2015 | volume= 141 | issue= 5 | pages= 428 | pmid=25996397 | doi=10.1001/jamaoto.2015.0540 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25996397 }} </ref><br />
<br />
==Classification==<br />
There is no established system for the [[classification]] of Fetal hydantoin syndrome.<br />
<br />
==Pathophysiology==<br />
It is understood that fetal hydantoin syndromes is the result of infants born to mothers with [[seizure]] disorders treated with [[anticonvulsant]] medications during pregnancy are at an increased risk for [[teratogenic]] effects.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref>There is also an association with [[EPHX1]] has been suggested.<ref>{{OMIM|132810}}</ref> Although the exact pathogenesis of [[phenytoin]] (PTN) embryo toxicity is not clear, some possible mechanisms have been proposed.<ref name="pmid16611127">{{cite journal| author=Webster WS, Howe AM, Abela D, Oakes DJ| title=The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. | journal=Curr Pharm Des | year= 2006 | volume= 12 | issue= 12 | pages= 1431-48 | pmid=16611127 | doi=10.2174/138161206776389868 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611127 }} </ref> Phenytoin inhibits [[sodium]] (Na) and [[calcium]] (Ca) channels which act as membrane stabilizers, as a result of which [[free radicals]] are released and cause endothelial damage, [[myocardial depression]], [[bradycardia]], and consequently [[fetal hypoxia]]. [[Phenytoin]] induces [[cytochrome P450]] activation which ends up within the release of [[teratogenic]] [[free radicals]], sourced via the metabolism of [[epoxides]], [[folate]], and [[vitamin K]] within the [[liver]].<ref name="pmid24323366">{{cite journal| author=Nilsson MF, Ritchie H, Webster WS| title=The effect on rat embryonic heart rate of Na+, K+, and Ca2+ channel blockers, and the human teratogen phenytoin, changes with gestational age. | journal=Birth Defects Res B Dev Reprod Toxicol | year= 2013 | volume= 98 | issue= 5 | pages= 416-27 | pmid=24323366 | doi=10.1002/bdrb.21084 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24323366 }} </ref><ref name="pmid11283972">{{cite journal| author=Azarbayjani F, Danielsson BR| title=Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. | journal=Teratology | year= 2001 | volume= 63 | issue= 3 | pages= 152-60 | pmid=11283972 | doi=10.1002/tera.1026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11283972 }} </ref>The severity of associated abnormalities will vary greatly from one infant to another. The characteristic features of fetal hydantoin synrome include abnormalities of [[growth]] such as prenatal ([[media:Intra-uterine-growth-restriction.png|IUGR]]) and [[postnatal]] growth deficiency and [[microcephaly]] abnormalities of performance such as [[developmental]] delay or dull mentality to frank mental deficiency; and [[dysmorphic]] [[craniofacial]] features commonly including [[short nose]] with [[broad depressed bridge]] and inner [[epicanthic folds]], [[mild ocular hypertelorism]], [[ptosis]] of the eyelid, [[strabismus]], [[wide mouth]], [[sutural ridging]], and [[short neck]] with mild [[webbing]]; less commonly [[cleft lip]] and [[media:Incomplete-cleft-palate.jpg|cleft palate]], and limb anomalies including [[hypoplasia]] of the [[nails]] and [[distal phalanges]] with an increased frequency of low arch digital dermal ridge patterns, and fingerlike thumb ([[media:Triphalangeal-thumb.jpg|Triphalangeal-thumb]]). Less commonly children displaying these dysmorphic [[craniofacial]] and limb features were reported to have major anomalies in other systems, including [[cardiac anomalies]]. It was also shown an increased incidence of major [[genitourinary]] and central nervous system anomalies, more serious limb reduction defects, and [[diaphragmatic hernia]].<ref name="pmid7131169">{{cite journal| author=Hanson JW, Buehler BA| title=Fetal hydantoin syndrome: current status. | journal=J Pediatr | year= 1982 | volume= 101 | issue= 5 | pages= 816-8 | pmid=7131169 | doi=10.1016/s0022-3476(82)80339-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7131169 }} </ref><br />
<br />
==Causes==<br />
Fetal hydantoin syndrome may be [[caused]] by a combination of specific [[genetic and environmental]] factors. Common [[causes]] of fetal hydantoin syndrome may include [[anti-seizure]](anticonvulsant) drug [[phenytoin]] [[(Dilantin)]] during [[pregnancy]].<ref name="pmid6263127">{{cite journal| author=Jimenez JF, Seibert RW, Char F, Brown RE, Seibert JJ| title=Melanotic neuroectodermal tumor of infancy and fetal hydantoin syndrome. | journal=Am J Pediatr Hematol Oncol | year= 1981 | volume= 3 | issue= 1 | pages= 9-15 | pmid=6263127 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6263127 }} </ref><br />
<br />
==Differential Diagnosis==<br />
[[Fetal hydantoin syndrome]] must be [[differentiated]] from other diseases that cause [[Hypoplastic nails]] and [[growth retardation]] along with some<br />
similar [[facial features]] are also found in the [[Coffin-Siris]],<ref name="pmid50428">{{cite journal| author=Hanson JW, Smith DW| title=The fetal hydantoin syndrome. | journal=J Pediatr | year= 1975 | volume= 87 | issue= 2 | pages= 285-90 | pmid=50428 | doi=10.1016/s0022-3476(75)80604-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50428 }} </ref> [[Hypopiasia of distal phalanges]] in Noonan's syndrome and [[Nail hypoplasia]] in [[Robinson's disease]]<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
==Epidemiology and Demographics==<br />
The exact [[incidence]] and [[prevalence]] of the [[fetal hydantoin syndrome]] is unknown.The [[risk]] appears to be 2-3 times greater than normal in the [[children]] of [[epileptic women]] taking [[anticonvulsant drugs]] than in the [[general population]].<ref name="pmid4116552">{{cite journal| author=Speidel BD, Meadow SR| title=Maternal epilepsy and abnormalities of the fetus and newborn. | journal=Lancet | year= 1972 | volume= 2 | issue= 7782 | pages= 839-43 | pmid=4116552 | doi=10.1016/s0140-6736(72)92209-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4116552 }} </ref> The [[risk]] of [[neurological impairment]] estimated to be 1% to 11% is 2 to 3 times [[higher]] than in [[the general population]]. The risk of [[oral clefts]] and [[cardiac anomalies]] is 5 times than others in [[hydantoin]] exposed infants. Less frequently observed [[abnormalities]] include [[microcephaly]], [[ocular defects]], [[hypospadias]], [[umbilical and inguinal hernias]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref> Fetal hydantoin syndrome affects males and females equally.<br />
<br />
==Risk factors==<br />
Common [[risk factors]] in the [[development]] of fetal hydantoin syndrome include exposure of fetus to [[antiepileptic]] drugs [[phenytoin]](Dilantin)<br />
<br />
==Screening==<br />
There is insufficient evidence to recommend routine [[screening]] for fetal hydantoin syndrome. But In case fetus exposed in [[utero]] to [[phenytoin]], screening by [[cytogenetic analysis]], a careful screening by [[morphological]] [[ultrasound]] was recommended.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |format= |work= |accessdate=}}</ref><br />
<br />
==Natural History, Complications, and Prognosis==<br />
Without termination of [[pregnancy]], the patient will develop conditions of severe [[respiratory distress]], [[multiple congenital anomalies]], including an [[imperforate]]<br />
anus, [[ambiguous genitalia]], [[dislocated hips]], [[clubfeet]], [[hypoplastic fingernails]], [[a short neck]], and a [[barrel-shaped thorax]], [[swollen thigh]], decrease [[ breath sound]] and [[cardiac murmur]] which may eventually lead to [[neonatal]] death.<ref name="pmid6702795">{{cite journal| author=Kogutt MS, Young LW| title=Radiological case of the month. Fetal hydantoin syndrome. | journal=Am J Dis Child | year= 1984 | volume= 138 | issue= 4 | pages= 405-6 | pmid=6702795 | doi=10.1001/archpedi.1984.02140420071021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6702795 }} </ref>Common [[complications]] of fetal hydantoin syndrome is [[microcephaly]], [[growth deficiency]], [[congenital heart defects]], systemic abnormalities (nervous, renal, GI systems).<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Diagnosis==<br />
===Diagnostic Study of Choice===<br />
There are no established [[criteria]] for the [[diagnosis]] of fetal hydantoin syndrome. The [[diagnosis]] is based on the clinical features along with a [[history]] of [[phenytoin]] exposure during [[pregnancy]].<ref name="pmid2501774">{{cite journal| author=Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ| title=Fetal hydantoin syndrome: a case report. | journal=Pediatr Dermatol | year= 1989 | volume= 6 | issue= 2 | pages= 130-3 | pmid=2501774 | doi=10.1111/j.1525-1470.1989.tb01011.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2501774 }} </ref><br />
<br />
===History and Symptoms===<br />
The patient with fetal hydantoin syndrome has a [[positive]] history of [[exposure]] to [[phenytoin]] during [[pregnancy]]. Common [[symptoms]] of fetal hydantoin syndrome include [[microcephaly]], [[mental retardation]], [[limb defects]] including [[hypoplastic nails]] and [[distal phalanges]], [[heart defects]].<br />
<br />
===Physical Examination===<br />
Common physical examination findings of fetal hydantoin syndrome include:<br />
*Microcephaly,<br />
*Distinctive facial ([[cleft lip and palate]]) and [[media:Congenital-upper-and-lower-limbs-deficiencies.jpg|limb anomalies]]<br />
*[[Ocular defects]]<br />
*[[Growth deficiency]]<br />
*[[Congenital heart defects]], [[cardiac rhythm disturbances]]<br />
*Variable systemic abnormalities involving the [[nervous]], [[renal]], and [[gastrointestinal systems]]<br />
*[[Congenital heart]] diseases associated with fetal hydantoin syndrome include [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref><br />
<br />
===Laboratory Findings===<br />
There are no diagnostic [[laboratory]] findings associated with fetal hydantoin syndrome.<br />
===Electrocardiogram===<br />
There are no [[ECG]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Echocardiography===<br />
[[Echocardiography]] may be helpful in the [[diagnosis]] of [[fetal hydantoin syndrome]]. Findings on [[echocardiography]] suggestive of [[pulmonary]] or [[aortic valvular stenosis]], [[coarctation of aorta]], [[patent ductus arteriosus]], and [[ventricular septal defects]].<br />
<br />
===X Ray===<br />
An [[X-ray]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on [[X-ray]] diagnostic of fetal hydantoin syndrome depends on the [[clinical features]] and include an [[absence of carpal]], [[metacarpal]], and [[phalangeal bone]], [[hypoplasia of the nails]] and [[distal phalanges]], [[Hyperphalangism]], [[Pseudohyperphalangism]], [[Adactyly]]/[[biphalangeal]] digits/absent nails [[Unilateral acheiria]], [[congenital heart disease]]. <ref name="pmid8723073">{{cite journal| author=Sabry MA, Farag TI| title=Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. | journal=Am J Med Genet | year= 1996 | volume= 62 | issue= 4 | pages= 410-2 | pmid=8723073 | doi=10.1002/ajmg.1320620403 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8723073 }} </ref> [[image:Ventricular-septal-defect.jpg|Frame|right|100px|X ray showing VSD - Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 7445]]<br />
<br />
<br />
===Ultrasound===<br />
[[Ultrasound]] may be helpful in the [[diagnosis]] of fetal hydantoin syndrome. Findings on ultrasound suggestive of fetal hydantoin syndrome includes [[gastroschisis]], [[sacral meningomyelocele]], absence of the [[upper limb]] [[lower limb]], clubfoot, Pectus carinatum.<ref name="urlA case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound">{{cite web |url=https://doi.org/10.1590/S1415-47571999000200002 |title=A case of [[prenatal]] [[diagnosis]] of fetal hydantoin syndrome by [[ultrasound]] |format= |work= |accessdate=}}</ref> [[dilated right/left heart]] with [[peri- cardial effusion]]<ref name="pmid28578158">{{cite journal| author=Hegde A, Kaur A, Sood A, Dhanorkar M, Varma HT, Singh G | display-authors=etal| title=Fetal Hydantoin Syndrome. | journal=J Pediatr | year= 2017 | volume= 188 | issue= | pages= 304 | pmid=28578158 | doi=10.1016/j.jpeds.2017.05.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28578158 }} </ref> <br />
<br />
===CT scan===<br />
There are no [[CT scan]] findings associated with fetal hydantoin syndrome.<br />
<br />
===Other Imaging Findings===<br />
There are no other [[imaging]] findings associated with fetal hydantoin syndrome.<br />
===Other Diagnostic Studies===<br />
Other [[diagnostic]] studies for fetal hydantoin syndrome include [[amniocentesis]] demonstrates, low [[epoxide hydrolase]] activity<ref name="pmid2336087">{{cite journal| author=Buehler BA, Delimont D, van Waes M, Finnell RH| title=Prenatal prediction of risk of the fetal hydantoin syndrome. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 22 | pages= 1567-72 | pmid=2336087 | doi=10.1056/NEJM199005313222204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2336087 }} </ref><br />
==Treatment==<br />
===Medical Therapy===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy. Patients with fetal hydantoin syndrome require to [[follow up]] and [[close monitoring]] of [[growth]], [[psychomotor]] [[craniofacial evaluation]], [[cardiac evaluation]].<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
===Surgery===<br />
Treatment of individuals with fetal hydantoin syndrome depends on the particular [[manifestation]] of the [[disease]]. Individuals with defects of bone require [[orthopedic surgery]], [[nervous system]] require [[neurosurgery]], [[cleft lip]] or [[cleft palate]] surgery and [[congenital heart disease]] may require to undergo major [[corrective surgery]] soon after [[birth]]. Other individuals who have relatively [[minor]] health problems require no therapy.<ref name="pmid23082254">{{cite journal| author=Singh R, Kumar N, Arora S, Bhandari R, Jain A| title=Fetal hydantoin syndrome and its anaesthetic implications: a case report. | journal=Case Rep Anesthesiol | year= 2012 | volume= 2012 | issue= | pages= 370412 | pmid=23082254 | doi=10.1155/2012/370412 | pmc=3469078 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23082254 }} </ref><br />
<br />
==Prevention==<br />
<br />
===Primary Prevention===<br />
Effective measures for the primary prevention of fetal hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref><br />
*changing AED from [[polytherapy]] to [[monotherapy]] before [[pregnancy]]<br />
*decreasing the serum concentration of AEDs to the lowest levels possible without losing seizure control<br />
*especially reducing PHT serum levels, supplementation with folate before pregnancy<br />
*regular check‐up of the AED serum concentrations, folate, and α‐fetoprotein (AFP) values<br />
*counseling with parents regarding the risk of pregnancy and malformations<br />
*regular check‐up of the fetus directly with ultrasonography.<br />
<br />
===Secondary Prevention===<br />
Effective [[measures]] for the [[secondary prevention]] of fetal Hydantoin syndrome include<ref name="pmid15610193">{{cite journal| author=Oguni M, Osawa M| title=Epilepsy and pregnancy. | journal=Epilepsia | year= 2004 | volume= 45 Suppl 8 | issue= | pages= 37-41 | pmid=15610193 | doi=10.1111/j.0013-9580.2004.458008.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15610193 }} </ref> <br />
*Periodic [[health]] checks of [[psychomotor]] and [[physical development]].<br />
*[[Electroencephalography]]: Annually<br />
*[[Counseling]]: instructions regarding [[children]] with [[handicaps]] and/or [[psychomotor retardation]]<br />
<br />
==References==</div>Farima Kahe