title: Cerebrotendinous xanthomatosis in three siblings from a Chinese family.
abstract: Cerebrotendinous xanthomatosis (CTX) is exceptionally rare in the Chinese population. We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of cerebrotendinous xanthomatosis including the multiple xanthomas of tendons, mental retardation, bilateral cataracts, cerebellar ataxia and spasticity of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain. On screening the family, two other siblings of 27 and 29 respectively, have tendon xanthomas and high plasma phytosterols. An extensive search of the international medical literature, including the Medline, has revealed only one other case report of cerebrotendinous xanthomatosis in Taiwan. CTX is a potentially treatable disease. It is hoped by alertness, early diagnosis and treatment can be made, and hence prevent further progression of the disease.
authors.affiliation: Department of Medicine, Kwong Wah Hospital, Kowloon, Hong Kong.
authors.forename: K F
authors.initials: KF
authors.lastname: Ko
authors.forename: K W
authors.initials: KW
authors.lastname: Lee
mesh_terms: D000328:Adult; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D002681:China; D002784:Cholesterol / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009679:Nuclear Family; D019821:Simvastatin / Q000627:therapeutic use; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*
chemical_list: D002635:Chenodeoxycholic Acid; D002784:Cholesterol; D019821:Simvastatin