Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
Publication/Presentation Date
11-1-2007
Abstract
Congenital disorders of glycosylation are a recently recognized group of inherited, multisystem disorders caused by aberrant biosynthesis of glycoproteins. We report the clinical and postmortem findings in a 3-year-old boy with a history of multiple medical issues including developmental delay, epilepsy, chronic protein-losing enteropathy, respiratory failure, nephropathy, coagulopathy, and cardiomyopathy. As part of the workup, isoelectric focusing for congenital disorders of glycosylation showed carbohydrate-deficient transferrin with the mono-oligo/dioligo ratio of 0.700 (normal, 0.075-0.109), indicating an increased level of abnormally glycosylated transferrin. After supportive care, he died secondary to multisystem complications of his disease. General autopsy findings were notable for micronodular liver cirrhosis with iron overload, myocardial ischemia and calcification, and hypertrophied glomeruli. Examination of the brain revealed cerebral and cerebellar atrophy, diffuse astrogliosis, and meningeal fibrosis. This article reveals complete autopsy findings of untyped congenital disorders of glycosylation, congenital disorders of glycosylation-x, with an undefined metabolic basis.
Volume
38
Issue
11
First Page
1714
Last Page
1719
ISSN
0046-8177
Published In/Presented At
Agarwal, B., Ahmed, A., Rushing, E. J., Bloom, M., Kadom, N., Vezina, G., Krasnewich, D., & Santi, M. (2007). Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features. Human pathology, 38(11), 1714–1719. https://doi.org/10.1016/j.humpath.2007.05.028
Disciplines
Medicine and Health Sciences
PubMedID
17954208
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article