A Rare Disease With Diverse Manifestations

This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulation of cholestanol in tissues may play a crucial role. Chenodeoxycholic acid is the most effective therapy. The causative role and detrimental effects (at a low plasma level) of cholestanol merit further investigation. Arch Neurol. 2002;59:527-529 Cerebrotendinous xanthomatosis (CTX) is anautosomalrecessivediseasecharacterized by formation of xanthomatous lesions in many tissues, in particular the brain and tendons. The diagnosis of CTX before neurologic deterioration is crucial to prevent brain damage that leads to severe mental and neurologicdysfunctionanddeath.Inthisregard, specific biochemical abnormalities include elevated plasma and bile cholestanol levels and increased urinary excretion of bile alcohol glucuronides associated with diminished biliary concentrations of chenodeoxycholic acid. In children unexplained bilateral cataracts with chronic diarrhea are the features that suggest this diagnosis before the onset of neurologic disease. Cerebrotendinous xanthomatosis is potentially treatable with improvement in neurologic function. Replacement therapy with chenodeoxycholic acid inhibits abnormal bile acid synthesis and is most effective in reducing elevated plasma cholestanol concentrations, and eliminating bile alcohols.