Glycogen storage disease type I physical examination: Difference between revisions
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==Overview== | ==Overview== | ||
Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding abdomen due to marked hepatomegaly, short stature, doll-like facial appearance, truncal obesity, and wasted muscles. | Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding [[abdomen]] due to marked [[hepatomegaly]], [[short stature]], doll-like facial appearance, truncal obesity, and wasted [[muscles]]. | ||
==Physical Exmaination== | ==Physical Exmaination== | ||
Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding abdomen due to marked hepatomegaly, short stature, doll-like facial appearance, truncal obesity, and wasted muscles.<ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref> | Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding [[abdomen]] due to marked [[hepatomegaly]], [[short stature]], doll-like facial appearance, truncal obesity, and wasted [[muscles]].<ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref><ref name="pmid13029898">{{cite journal| author=ZAKON SJ, OYAMADA A, ROSENTHAL IH| title=Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease). | journal=AMA Arch Derm Syphilol | year= 1953 | volume= 67 | issue= 2 | pages= 146-51 | pmid=13029898 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13029898 }} </ref> | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks. | *Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by [[adipose]] tissue deposition in the [[Cheek|cheeks]]. | ||
===Skin=== | ===Skin=== | ||
Signs due to hypoglycemia include: | Signs due to [[hypoglycemia]] include: | ||
*Paleness | *[[Paleness]] | ||
*Sweating | *[[Sweating]] | ||
===HEENT=== | ===HEENT=== | ||
* [[Epistaxis]] may be present due to platelet dysfunction | * [[Epistaxis]] may be present due to [[platelet]] dysfunction | ||
===Lungs=== | ===Lungs=== | ||
Signs due to hypoglycemia include: | Signs due to [[hypoglycemia]] include: | ||
* Hyperventilation | * [[Hyperventilation]] | ||
* Apnea | * [[Apnea]] | ||
===Abdomen=== | ===Abdomen=== | ||
*Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat) | *Protruding abdomen due to marked [[hepatomegaly]] (storage of [[glycogen]] and [[fat]]) | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
Signs due to hypoglycemia in infants include: | Signs due to [[hypoglycemia]] in [[infants]] include: | ||
*Tremors | *[[Tremors]] | ||
*Irritability | *[[Irritability]] | ||
*Convulsions | *[[Convulsions]] | ||
Older infants show signs including: | Older infants show signs including: | ||
* Frequent lethargy | * Frequent [[lethargy]] | ||
* Difficult arousal from sleep | * Difficult arousal from [[sleep]] | ||
* Tremors | * [[Tremors]] | ||
===Extremities=== | ===Extremities=== | ||
*Cyanosis | *[[Cyanosis]] | ||
*Growth retardation | *[[Growth retardation]] | ||
*Relatively thin extremities | *Relatively thin extremities | ||
*Xanthoma may be found on extensor surfaces, such as the elbows and knees | *[[Xanthoma]] may be found on [[extensor]] surfaces, such as the [[elbows]] and [[knees]] | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 17:49, 30 November 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding abdomen due to marked hepatomegaly, short stature, doll-like facial appearance, truncal obesity, and wasted muscles.
Physical Exmaination
Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding abdomen due to marked hepatomegaly, short stature, doll-like facial appearance, truncal obesity, and wasted muscles.[1][2]
Appearance of the Patient
- Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks.
Skin
Signs due to hypoglycemia include:
HEENT
Lungs
Signs due to hypoglycemia include:
Abdomen
- Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)
Neuromuscular
Signs due to hypoglycemia in infants include:
Older infants show signs including:
Extremities
- Cyanosis
- Growth retardation
- Relatively thin extremities
- Xanthoma may be found on extensor surfaces, such as the elbows and knees
References
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ ZAKON SJ, OYAMADA A, ROSENTHAL IH (1953). "Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease)". AMA Arch Derm Syphilol. 67 (2): 146–51. PMID 13029898.