Cerebrotendineous xanthomatosis
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| Cerebrotendineous xanthomatosis | |
| ICD-10 | E75.5 |
|---|---|
| ICD-9 | 272.7 |
| OMIM | 213700 |
| DiseasesDB | 29239 |
| MeSH | D019294 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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.