Magnetic resonance imaging in cerebrotendinous xanthomatosis: A prospective clinical and neuroradiological study

V. M. Berginer, J. Berginer, A. D. Korczyn, R. Tadmor

Research output: Contribution to journalArticlepeer-review

Abstract

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 with demyelination. Focal lesions were rare ( 2 13). Mass effect, edema or enhancement were not observed. Treatment with chenodeoxycholic acid (CDCA) 750 mg/day orally improved neurological and biochemical abnormalities. MRI appears to be of little value in following improvement after treatment has begun. Otherwise, the MRI studies are very sensitive and useful in diagnosing early incomplete forms of CTX.

Original languageEnglish
Pages (from-to)102-108
Number of pages7
JournalJournal of the Neurological Sciences
Volume122
Issue number1
DOIs
StatePublished - Mar 1994

Keywords

  • CT
  • Cerebrotendinous xanthomatosis
  • Diagnosis
  • MRI

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