[Cerebrotendinous xanthomatosis: long-term treatment with chenodesoxycholic acid (author's transl)].
A case of cerebrotendinous xanthomatosis without hyperlipidaemia but with tendinous scanthomatosis, subtle neurological disorders and endocrine cataract is reported. Accumulation of cholestanol, a cholesterol derivative, was detected by mass fragmentography. The plasma cholestanol : cholesterol ratio was 30 times higher than normally. Treatment with chenodesoxycholic acid during 26 months brought about neurological improvement, stabilization of the cataract and xanthomatosis and return to normal of plasma cholestanol levels.
D000328:Adult; D001928:Brain Diseases, Metabolic / Q000188:drug therapy*; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D002777:Cholestanols / Q000097:blood; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000188:drug therapy*; D013710:Tendons / Q000378:metabolism*; D014973:Xanthomatosis / Q000188:drug therapy*
D002777:Cholestanols; D002635:Chenodeoxycholic Acid; D002784:Cholesterol
Xanthomatose cérébro-tendineuse: traitement prolongé par l'acide chénodésoxycholique.