Psychiatric disorders in patients with cerebrotendinous xanthomatosis.

Abstract

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.

• Authors: V M Berginer, N L Foster, M Sadowsky, J A Townsend 3rd, G J Siegel, G Salen
• Journal: The American journal of psychiatry (Am J Psychiatry) Vol. 145 Issue 3 Pg. 354-7 (Mar 1988) ISSN: 0002-953X [Print] United States
• PMID: 3344851 (Publication Type: Case Reports, Journal Article)

Chemical References

• Bile Acids and Salts
• Chenodeoxycholic Acid

Topics

• Achilles Tendon (pathology)
• Adult
• Bile Acids and Salts (metabolism)
• Brain Diseases (diagnosis, metabolism, pathology)
• Chenodeoxycholic Acid (therapeutic use)
• Dementia (diagnosis, drug therapy)
• Diagnosis, Differential
• Female
• Humans
• Male
• Xanthomatosis (diagnosis, metabolism, pathology)