title: Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
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.
authors.affiliation: Department of Pathology, Howard University School of Medicine, Washington, DC 20059, USA.
authors.forename: Beamon
authors.initials: B
authors.lastname: Agarwal
authors.forename: Atif
authors.initials: A
authors.lastname: Ahmed
authors.forename: Elisabeth J
authors.initials: EJ
authors.lastname: Rushing
authors.forename: Miriam
authors.initials: M
authors.lastname: Bloom
authors.forename: Nadja
authors.initials: N
authors.lastname: Kadom
authors.forename: Gilbert
authors.initials: G
authors.lastname: Vezina
authors.forename: Donna
authors.initials: D
authors.lastname: Krasnewich
authors.forename: Mariarita
authors.initials: M
authors.lastname: Santi
mesh_terms: D001344:Autopsy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D008103:Liver Cirrhosis / Q000473:pathology; D008297:Male; D014168:Transferrin / Q000378:metabolism
chemical_list: D014168:Transferrin