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• W2344662661 abstract "PURPOSE To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings. METHODS Ten patients with well-defined clinical and biochemical diagnoses of cerebrotendinous xanthomatosis were examined. Brain CT was performed in eight cases. In all patients MR was obtained using spin-echo and gradient-echo sequences. In eight patients spine MR was also performed. RESULTS Neuroradiologic findings included diffuse cerebral and cerebellar atrophy. In half the cases, atrophy of the brain stem and corpus callosum was also found. In the majority of patients cerebellar bilateral focal lesions and mild white matter signal alterations were present. Spinal cord MR did not show signal abnormalities or atrophy. CONCLUSIONS We found cranial alterations in patients with severe neurologic impairment, but there was no correlation with cholestanol plasma levels. No spinal cord abnormalities were present." @default.
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• W2344662661 date "1994-10-01" @default.
• W2344662661 modified "2023-09-26" @default.
• W2344662661 title "CEREBROTENDINOUS XANTHOMATOSIS (VAN BOGAERT-SCHERER-EPSTEIN DISEASE) : CT AND MR FINDINGS" @default.
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• W2344662661 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8333715" @default.
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