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Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases

ABSTRACT‐ Cerebrotendinous xanthomatosis is an unusual disease, clinically characterized by dementia, cataracts, progressive cerebellar ataxia, pyramidal signs, and multiple xanthomas of tendons and other tissues. It was first described in 1937, and in 1968 the storage of cholesterol and cholestanol in the tissues was demonstrated. About 30 cases have been reported. The authors of the present communication report 2 cases in siblings with parental consanguinity. They showed mental impairment and cataract, and multiple xanthomas; in 1 case, pyramidal signs were detected in the 4 limbs associated with a rise of the vibration‐sense thresholds in the feet. The diagnosis was confirmed in both cases by greatly increased cholestanol levels in the blood serum, bile and in a tendon xanthoma. Cholesterol concentrations in the blood serum and bile were normal although increased in the xanthoma. One case had a gallstone. Computerized tomography showed hyperdense nodules in the cerebellar hemispheres of one patient, and a calcified parietal nodule in his sister. The etiopathogenesis of the disease is discussed. Treatment with ursodeoxycholic acid is in course in both patients.