Familial cerebrotendinous xanthomatosis. Report of a new family and review of the literature.
Cerebrotendinous xanthomatosis occurred in a new family. This is a rare familial disorder characterized by juvenile cataracts, enlargement of tendons, low intelligence, and a variable neurological syndrome with cerebellar ataxia as the most prominent feature. The mode of inheritance is autosomal recessive. The basic defect remains obscure, but recent investigations have shown an excess of cholestanol in the tissues and serum of affected persons, which forms the basis of diagnosis.
D000015:Abnormalities, Multiple; D000125:Achilles Tendon / Q000473:pathology; D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008607:Intellectual Disability / Q000150:complications; D008297:Male