Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study

We report the electrophysiological follow-up of five cerebrotendinous xanth omatosis patients treated for I I years with chenodeoxycholic acid (CDCA). Nerve conduction velocity (NCV) was reduced in three cases. P100 latency of visual evoked potentials was delayed in four cases, interpeaks I-III and I -V of brainstem. auditory evoked potentials (BAEPs) was increased in two an d interpeak N13-20 of upper limb somatosensory evoked potentials (SEPs) was slowed in one. After 4 months of therapy with CDCA, NCV was normal and did not show any significant change during the 11 years of observation. Centra l motor conduction time of motor evoked potentials (MEPs) and N24-P40 inter peak latency of lower limb SEPs were increased in five and four cases, resp ectively, in spite of 2/3-year treatment with CDCA. Improvement of evoked p otentials, especially of MEPs and SEPs, was slower and continued over the w hole 11-year period. The size of xanthomas slightly decreased in some patie nts during treatment and the clinical manifestations stabilized, avoiding p rogressive worsening, but there was no significant improvement in neurologi cal deficit. Two sisters of patients who never took CDCA showed progressive worsening of clinical manifestations, upper limb SEPs and BAEPs. (C) 2001 Published by Elsevier Science B.V.