Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid in three siblings.

We investigated the therapeutic effect of chenodeoxycholic acid (750 mg/day) in three siblings with cerebrotendinous xanthomatosis. All three siblings had characteristic clinical manifestations, abnormal findings of magnetic resonance imaging and electroencephalogram, and high serum levels of cholestanol, cholesterol precursor (lathosterol), and plant sterols (campesterol, sitosterol). After treatment for one year, the serum levels of these sterols were decreased and some neurologic improvements in the pyramidal tract signs and cerebellar signs were noted. The electroencephalographic findings were markedly changed and normalized. However, mental defects and sensorimotor polyneuropathy still remained. No changes of neuroradiologic features could be detected. A longer period of treatment is required to estimate the overall effects of chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.