CEREBROTENDINOUS XANTHOMATOSIS CTX
A Rare Disease With Diverse Manifestations
Mohammed H. Moghadasian, PhD; Gerald Salen, MD; Jiri J. Frohlich, MD; Charles H. Scudamore, MD
Arch Neurol. 2002;59:527-529.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized 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 neurologic dysfunction and death. In this regard, 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.