Vanrietvelde F, Lemmerling M, Mespreuve M, Crevits L, De Reuck J, Kunnen M
Department of Radiology, University Hospital Gent, Belgium.
Eur Radiol. 2000;10(4):576-8. doi: 10.1007/s003300050964.
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.
