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

The clinical, biochemical and magnetic resonance imaging findings of two pa tients with cerebro-tendinous xanthomatosis are reported. This is a rare he reditary disease. Early recognition of this entity is important in view of the existing treatment possibilities. Magnetic resonance imaging findings t ypically include a bilateral and almost symmetrical increase of the signal intensity on the T2-weighted images in the cerebellar and periventricular c erebral white matter, the basal ganglia, the dentate nuclei and the brainst em as well as cerebellar and cerebral atrophy.