Cerebrotendinous xanthomatosis: heard of it?

Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive, lipid storage disorder, characterized by accumulation of cholesterol and cholestanol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver and kidneys. The usual conundrum is an amalgam of the primary symptom, as mentioned above, along with features of cerebellar ataxia, juvenile cataract and subcutaneous swellings over tendons. Mental retardation is a very striking and prominent feature in this syndrome. Prompt diagnosis is vital, as patients benefit from therapy with chenodeoxycholic acid and progress of the disease can be halted prior to irreversible neurological dysfunction. This is our experience.