MRI in a case of Sandhoff's disease.
Neuroradiology
; 38 Suppl 1: S178-80, 1996 May.
Article
en En
| MEDLINE
| ID: mdl-8811709
ABSTRACT
An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Sandhoff
/
Encéfalo
/
Imagen por Resonancia Magnética
Límite:
Female
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Humans
/
Infant
Idioma:
En
Revista:
Neuroradiology
Año:
1996
Tipo del documento:
Article
País de afiliación:
Austria