Glycogen storage disease type I MRI: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
Recurrent hypoglycemia causes brain damage in patients with glycogen storage disease type 1. MRI findings in glycogen storage | Recurrent [[hypoglycemia]] causes [[brain damage]] in patients with glycogen storage disease type 1. [[MRI]] findings in glycogen storage disease type 1 due to [[brain damage]] include [[dilatation]] of [[Occipital lobe|occipital]] horns and/or hyperintensity of [[subcortical]] [[white matter]] in the [[occipital lobes]]. Abdominal [[magnetic resonance imaging]] or [[computed tomography]] with contrast is performed to screen for [[hepatocellular carcinoma]] and repeated every 6 - 12 months or earlier on the basis of [[laboratory]] and clinical findings. | ||
==MRI== | ==MRI== | ||
*Recurrent hypoglycemia causes brain damage in patients with glycogen storage disease type 1. MRI findings in glycogen storage diseases due to brain damage include:<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> | *Recurrent [[hypoglycemia]] causes [[brain damage]] in patients with glycogen storage disease type 1. MRI findings in glycogen storage diseases type 1 due to [[brain damage]] include:<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> | ||
** Dilatation of occipital horns | ** [[Dilatation]] of [[Occipital lobe|occipital]] horns | ||
** Hyperintensity of subcortical white matter in the occipital lobes | ** Hyperintensity of [[subcortical]] [[white matter]] in the [[occipital lobes]] | ||
*Abdominal [[magnetic resonance imaging]] or [[computed tomography]] with contrast is performed to screen for [[hepatocellular carcinoma]] in patients including:<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref> | |||
**Pediatric age group once [[adenoma]] is detected on [[ultrasound]] screening | |||
**Older patients even if there is no [[adenoma]] on [[ultrasound]] screening | |||
*:'''Note:''' These investigations should be repeated every 6 - 12 months or earlier on the basis of [[laboratory]] and clinical findings. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
[[Category:Radiology]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Latest revision as of 17:59, 30 November 2017
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Glycogen storage disease type I Microchapters |
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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
Recurrent hypoglycemia causes brain damage in patients with glycogen storage disease type 1. MRI findings in glycogen storage disease type 1 due to brain damage include dilatation of occipital horns and/or hyperintensity of subcortical white matter in the occipital lobes. Abdominal magnetic resonance imaging or computed tomography with contrast is performed to screen for hepatocellular carcinoma and repeated every 6 - 12 months or earlier on the basis of laboratory and clinical findings.
MRI
- Recurrent hypoglycemia causes brain damage in patients with glycogen storage disease type 1. MRI findings in glycogen storage diseases type 1 due to brain damage include:[1]
- Dilatation of occipital horns
- Hyperintensity of subcortical white matter in the occipital lobes
- Abdominal magnetic resonance imaging or computed tomography with contrast is performed to screen for hepatocellular carcinoma in patients including:[2]
- Pediatric age group once adenoma is detected on ultrasound screening
- Older patients even if there is no adenoma on ultrasound screening
- Note: These investigations should be repeated every 6 - 12 months or earlier on the basis of laboratory and clinical findings.
References
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.