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