Moghadasian and colleaguescritically assess the clinical and genetic knowledge of cerebrotendinous xanthomatosis (CTX). It is a rare disease with diverse manifestations, including cataracts, Achilles tendon xanthomas, diarrhea, atherosclerotic vascular disease, and diverse neurologic manifestations that include severe mental retardation. Excess production and consequent accumulation of cholestanol in tissues is an important feature and chenodeoxycholic acid is an effective therapy. Early detection and treatment of CTX significantly reduces the impact of the disease. This review alerts the physician to key diagnostic features.
This Month in The Archives of Neurology. Arch Neurol. 2002;59(4):516–517. doi:10.1001/archneur.59.4.516