Cerebrotendineous xanthomatosis
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| Cerebrotendineous xanthomatosis Classification and external resources |
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| ICD-10 | E75.5 |
|---|---|
| ICD-9 | 272.7 |
| OMIM | 213700 |
| DiseasesDB | 29239 |
| MeSH | D019294 |
Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer 'e', or cerebrotendinous cholesterosis) is a form of xanthomatosis.
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[edit] Causes
It is autosomal recessive,[1] and associated with the CYP27A1 gene on chromosome 2.
[edit] Presentation
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.
[edit] Eponym
It is also known as "Van Bogaert-Scherer-Epstein syndrome".[2][3]
[edit] References
- ^ Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A (May 2008). "Cerebrotendinous xanthomatosis: Neuropathological findings". J. Neurol.. doi:. PMID 18458861.
- ^ synd/1452 at Who Named It
- ^ L. van Bogaert, H. J. Scherer, E. Epstein. Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine). Paris, Masson, 1937.
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