Magnetic resonance imaging of cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder in which cholestanol and cholesterol accumulate in the nervous system and other tissues. It has an autosomal recessive mode of inheritance. Most patients are of low intelligence with poor school performance. Specific clinical manifestations include xanthomas of the tendons. Furthermore, patients develop cataracts and a slowly progressive cerebellar ataxia. There is slight mental deterioration. Death usually occurs in the sixth or seventh decade and is often due to unrelated causes. Plasma cholesterol levels are normal or only moderately elevated. The pattern of serum lipids is normal, and only serum cholestanol is significantly increased. Radiological features of the disease are infrequently described in the literature. We report a case of CTX in which magnetic resonance imaging (MRI) was used to image the brain, lumbar spine and the tendinous xanthomas of the lower limbs. 15 refs., 5 figs