Campoy MV, Bolomo G, Ibáñez MJ, Michelena MÁ, Maradeo MR

Language: Spanish
References: 26
Page: 51-55
PDF size: 313.79 Kb.

ABSTRACT

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease. It is produced by a deficit in the mitochondrial esterol 27-hydroxylase (CYP27A1) enzyme that causes a decreased synthesis of bile acids, especially the chenodeoxycholic acid (CDA), and an increase of intermediates, such as cholestanol and bile alcohols, which accumulate in various organs. Among its clinical manifestations are: tendon xanthomas, cataracts, diarrhea and neurological dysfunction. The skin lesions do not lead to dermatological consultation as they are a minor signed, compared to the rest of the symptoms, therefore the diagnosis is not frequent in our field. The diagnosis is based mainly on the determination of bile alcohols in urine, which is more specific than the dosage of cholestanol in blood and much more accessible than the genetic study. The replacement therapy with CDA inhibits the synthesis of cholestanol. Although this can modify the evolution of the disease it has no effect on the established neurological damage, hence the importance of early diagnosis. We present a patient with a XCT who was diagnosed with the Neurology Service of our hospital. With the interrogation we could also detect other cases in his family that were referred to different neurology services.

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