[Magnetic resonance of the brain and Achilles tendon in cerebrotendinous xanthomatosis].
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.
Pardo
J
J
Servicio de Neurología, Hospital General de Galicia Clínico-Universitario, Santiago de Compostela.
Prieto
J M
JM
Rodríguez
J R
JR
Vadillo
J
J
Dapena
M D
MD
Noya
M
M
D000125:Achilles Tendon / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D004083:Cholestanol / Q000378:metabolism; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis; D003704:Dementia / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007361:Intelligence Tests; D050356:Lipid Metabolism; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D014973:Xanthomatosis / Q000175:diagnosis* / Q000473:pathology
D004083:Cholestanol
Resonancia magnética de encéfalo y tendón de Aquiles en la xantomatosis cerebrotendinosa.