MAGNETIC-RESONANCE-IMAGING IN CEREBROTENDINOUS XANTHOMATOSIS - A PROSPECTIVE CLINICAL AND NEURORADIOLOGICAL STUDY

We describe MRI findings in 13 persons with typical clinical, EEG, CT and biochemical features of cerebrotendinous xanthomatosis (CTX). MRI showed brain (13/13) and cerebellar (12/13) atrophy and diffuse white matter hypodensity (4/13) presumably reflecting sterol infiltration wi th demyelination. Focal lesions were rare (2/13). Mass effect, edema o r enhancement were not observed. Treatment with chenodeoxycholic acid (CDCA) 750 mg/day orally improved neurological and biochemical abnorma lities. MRI appears to be of little value in following improvement aft er treatment has begun. Otherwise, the MRI studies are very sensitive and useful in diagnosing early incomplete forms of CTX.