Am J Psychiatry 1988; 145:354-357
Copyright © 1988 by American Psychiatric Association
Psychiatric disorders in patients with cerebrotendinous xanthomatosis
VM Berginer, NL Foster, M Sadowsky, JA Townsend 3d, GJ Siegel and G Salen
Department of Neurology, Soroka Medical Center, Beer-Sheva, Israel.
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.
