Contributor: Gordon K. Klintworth
Cerebrotendinous xanthomatosis (cerebral cholesterinosis, OMIM #213700) is a rare autosomal recessive lipid storage disease characterized by the deposition of cholesterol and cholestanol mainly in the brain, blood vessels, lungs and Archilles tendon. In their teens children present with cerebellar ataxia, spinal cord symptoms, cataracts [cataract] and premature atherosclerosis. Death follows progressive neurologic involvement due to the deposition of these lipids in the brain stem. The cause of death is often myocardial infaction. Cataracts are an early clinical manifestation. Other ophthalmologic features are optic disk pallor and premature retinal senescence. Diagnosis is established by finding hypercholesterolemia and elevated cholesterol in the tendons. The basic defect is a deficiency of a sterol 27-hydroxylase due to a mutation in the CRYP27A1 gene. Treatment is with the drug chenodroxycholic acid which chelates the cholesterol.