Glycogen storage disease type I MRI
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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.