Glycogen storage disease type I MRI: Difference between revisions
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** Dilatation of occipital horns | ** Dilatation of occipital horns | ||
** Hyperintensity of subcortical white matter in the occipital lobes | ** Hyperintensity of subcortical white matter in the occipital lobes | ||
*Abdominal magnetic resonance imaging 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 | |||
**Older patients even if there is no adenoma on ultrasound | |||
*These investigations should be repeated every 6 - 12 months or earlier on the basis of laboratory and clinical findings. | |||
==References== | ==References== |
Revision as of 15:12, 21 November 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Recurrent hypoglycemia causes brain damage in patients with glycogen storage disease type 1. MRI findings in glycogen storage diseases due to brain damage include dilatation of occipital horns and/or hyperintensity of subcortical white matter in the occipital lobes.
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:[1]
- Dilatation of occipital horns
- Hyperintensity of subcortical white matter in the occipital lobes
- Abdominal magnetic resonance imaging computed tomography with contrast is performed to screen for hepatocellular carcinoma in patients including:[2]
- Pediatric age group once adenoma is detected on ultrasound
- Older patients even if there is no adenoma on ultrasound
- 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.