title: Cerebrotendinous xanthomatosis with cholestanolaemia--involvement of five individuals in a Malay family.
abstract: Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia.
authors: Department of Pathology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan.
authors: N H
authors: NH
authors: Othman
authors: S A
authors: SA
authors: Rahman
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D013710:Tendons; D014973:Xanthomatosis / Q000235:genetics* / Q000473:pathology