We report serial changes in MRI findings in three siblings of biochemically and clinically proven cerebrotendinous xanthomatosis (CTX) after treatment with chenodeoxycholic acid (CDCA) 750 mg/day orally for seven years.
Clinical and electrophysiological studies are also assessed. Electroencephalography (EEG) has improved dramatically, whereas the magnetic resonance image (MRI) shows only slight change.
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BerginerVMBerginerJ: Magnetic resonance imaging in cerebrotendinous xanthomatosis: A prospective clinical and neurological study. J Neurol Sci122: 102–108, 1994.
