[Magnetic resonance of the brain and Achilles tendon in cerebrotendinous xanthomatosis].
キーワード
概要
We report a 31 year old patient with cerebrotendinous xanthomatosis who presented with dementia, tendinous xanthomas, cataracts, pyramidal involvement, cerebellar ataxia and peripheral neuropathy. Cerebral CT scan demonstrated diffuse hypodensity in the white matter in both cerebellar hemispheres while MR detected additional focal alterations in both frontal lobes. MR study of the Achilles tendon showed a diffuse enlargement of the tendon with multiple areas of hypersignals in T1 and T2 demonstrative of the lipid deposits, interpossed between the isosignal zones that may correspond to the inflammatory reaction secondary to the accumulation of cholesterol and cholestanol.