Distinct features of congenital disorder of glycosylation type IIx in Kuwait: a case report.

Abstract

Congenital disorders of glycosylation are a rare but complex group of inborn metabolic diseases that result in carbohydrate-deficient glycoproteins. Biochemical and clinical features of both types I and II of this group of disorders have been well characterized and reported from various parts of the world except the Middle East. The authors describe a patient with congenital disorders of glycosylation type IIx who presented with psychomotor retardation, development delay, hypotonia, and hepatomegaly. Computed tomography scan of the liver showed multiple hepatic focal lesions, and magnetic resonance imaging revealed mild brain and corpus callosum atrophy. This is the first report of congenital disorders of glycosylation type IIx from Kuwait that shows its prevalence and distinct features in the Middle East.

• Authors: Nawal Makhseed, Gursev Dhaunsi, Jaak Jaeken
• Journal: Journal of child neurology (J Child Neurol) Vol. 27 Issue 2 Pg. 222-4 (Feb 2012) ISSN: 1708-8283 [Electronic] United States
• PMID: 21960674 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Brain (metabolism, pathology)
• Congenital Disorders of Glycosylation (metabolism, pathology)
• Female
• Humans
• Infant
• Liver (metabolism, pathology)