Cerebrotendinous Xanthomatosis

Abstract

Cerebrotendinous Xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clinical findings include, tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. We report a case aged 17 had painless, semimobile, solid masses on her both achilles tendon diagnosed as Cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis must be considered in the diagnosis of patients with tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels.