Cerebrotendinous xanthomatosis.
A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.
D000328:Adult; D001927:Brain Diseases / Q000473:pathology*; D002386:Cataract / Q000150:complications; D002524:Cerebellar Ataxia / Q000150:complications; D002784:Cholesterol / Q000097:blood; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000150:complications; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology; D013710:Tendons / Q000473:pathology*; D014973:Xanthomatosis / Q000150:complications / Q000473:pathology*
D002784:Cholesterol