title: MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease).
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.
authors.affiliation: Department of Radiology, University Hospital Gent, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Vanrietvelde
authors.forename: M
authors.initials: M
authors.lastname: Lemmerling
authors.forename: M
authors.initials: M
authors.lastname: Mespreuve
authors.forename: L
authors.initials: L
authors.lastname: Crevits
authors.forename: J
authors.initials: J
authors.lastname: De Reuck
authors.forename: M
authors.initials: M
authors.lastname: Kunnen
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019294:Xanthomatosis, Cerebrotendinous / Q000473:pathology*