Cerebrotendinous xanthomatosis is a familial recessive disorder.
Patients with the disorder present with tendon xanthomas, juvenile
cataracts, dementia, and pyramidal and cerebellar abnormalities but have
normal plasma cholesterol. High plasma cholestanol concentrations and
abnormal bile acid metabolism are specific for this disease. The authors
describe four patients with cerebrotendinous xanthomatosis and prominent
psychiatric symptoms. In three of these patients appropriate diagnosis and
treatment were delayed for years because the presence of cerebrotendinous
xanthomatosis was not recognized. Early recognition of this potentially
lethal disease is important because both the psychiatric and neurological
symptoms respond to treatment with chenodeoxycholic acid.