Cerebrotendinous Xanthomatosis In A Family

Abstract

A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs. The sisters had bilateral juvenile cataracts in addition to Achilles tendon xanthomas. The serum cholosterol level in all the three was within normal limits. The FNAC and histopathology of tendinous swelling showed touton giant cells and foam cells. A diagnosis of cerebro- tendinous xanthomatosis was made on the basis of Achilles tendon xanthomas, bilateral cataracts and normal serum cholesterol.