Publication Date:
1990
abstract:
We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.
Iris type:
1.1 Articolo in rivista
Keywords:
Achilles Tendon; pathology, Adult, Brain Diseases; Metabolic; diagnosis/genetics, Cerebellum; pathology, Cholesterol; blood, Dementia; diagnosis/genetics, Female, Globus Pallidus; pathology, Humans, Magnetic Resonance Imaging, Mesencephalon; pathology, Xanthomatosis; diagnosis/genetics
List of contributors:
M., Fiorelli; V. D., Piero; Bastianello, Stefano; L., Bozzao; A., Federico
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