Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cerebrotendineous xanthomatosis
Introduction
Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer ‘e’, or Van Bogaert-Scherer-Epstein syndrome, or cerebrotendinous cholesterosis) is a form of xanthomatosis associated with the CYP27A1 gene on chromosome 2.
An inherited disorder associated with the deposition of a form of cholesterol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, and tendineous or tuberous xanthomas.
External links
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]