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MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease)

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Abstract.

The clinical, biochemical and magnetic resonance imaging findings of two patients with cerebrotendinous xanthomatosis are reported. This is a rare hereditary disease. Early recognition of this entity is important in view of the existing treatment possibilities. Magnetic resonance imaging findings typically include a bilateral and almost symmetrical increase of the signal intensity on the T2-weighted images in the cerebellar and periventricular cerebral white matter, the basal ganglia, the dentate nuclei and the brainstem as well as cerebellar and cerebral atrophy.

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Received: 18 January 1999; Revised: 3 June 1999; Accepted: 7 June 1999

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Vanrietvelde, F., Lemmerling, M., Mespreuve, M. et al. MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease). Eur Radiol 10, 576–578 (2000). https://doi.org/10.1007/s003300050964

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  • DOI: https://doi.org/10.1007/s003300050964

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