CEREBROTENDINOUS XANTHOMATOSIS (VAN BOGAERT-SCHERER-EPSTEIN DISEASE) - CT AND MR FINDINGS

PURPOSE: To describe the CT and MR findings in the brain and spinal co rd of patients with cerebrotendinous xanthomatosis and to seek possibl e correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings. METHODS: Ten patients with well-defined clinic al and biochemical diagnoses of cerebrotendinous xanthomatosis were ex amined. Brain CT was performed in eight cases. In all patients MR was obtained using spin-echo and gradient-echo sequences. In eight patient s spine MR was also performed. RESULTS: Neuroradiologic findings inclu ded diffuse cerebral and cerebellar atrophy. In half the cases, atroph y of the brain stem and corpus callosum was also found. In the majorit y of patients cerebellar bilateral focal lesions and mild white matter signal alterations were present. Spinal cord MR did not show signal a bnormalities or atrophy. CONCLUSIONS: We found cranial alterations in patients with severe neurologic impairment, but there was no correlati on with cholestanol plasma levels. No spinal cord abnormalities were p resent.