Van Bogaert's cerebrotendinous xanthomatosis. A study of 3 cases]

The authors report three observations of cerebro-tendinous xanthomatosis (CTX). The three patients presented tendinous xanthoma and cataract. The neurologic disorders were different in each case. The first one, a 43 years old woman suffered from dementia, ataxia and pseudobulbar palsy: CT scan showed cerebellar hypodense lesions. After the apparition of bulbar signs ans cachexia she died at 45. The second patient, a 39 years old man had an ataxia and mild psychiatric disorders. He was stabilized with a treatment of chenodesoxycholic acid. The third one, a 49 years old women suffered only from tendinous xanthoma, cataract, and had no neurological disorder. His plasmatic cholestanol level was high. CTX is a recessive deficit of the hepatic 26 hydroxylase with deposits of abnormal metabolites in tendons, crystalline lenses and central nervous system. Reviewing the 44 observations of CTX in the literature, the authors define the genetical, clinical, biochemical and therapeutical aspects of CTX, and underline the necessity of a early diagnosis with cholestanol dosage, before the apparition of neurological disorders and the short terminal phase. CTX is a rare but fortunately treatable neurolipidosis.