A case report on cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS. It is characterized by juvenile cataract, tendon xanthomas and progressive neurological defects. It is one of a group of neurologic disorder collectively referred to as leukodystrophy, which predominantly affects the CNS white matter. We are presenting a patient with cerebrotendinous xanthomatosis, who is now 36 years old, and shows the natural course of disease in an untreated patient. He presented with xanthomas on Achilles tendon, elbow and knees and showed cerebellar and pyramidal signs. He had recurrent seizures and was mentally subnormal.