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Cerebrotendinous xanthomatosis is treatable

S W White

    Pediatric Dermatology
    |July 1, 1985
    PubMed

    Abstract:

    Cerebrotendinous xanthomatosis is a recessively inherited disorder of bile acid metabolism. Cataracts and tendinous xanthomas begin during adolescence. Results of routine tests of plasma lipids are normal. Therapy with chenodeoxycholic acid may reduce the production of cholestanol and thus slow the course of the disease.

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