Ptosis in late infantile Tay-Sachs disease.
Indian J Pediatr
;
2001 May; 68(5): 463-5
Artigo
em Inglês
| IMSEAR
| ID: sea-81494
ABSTRACT
The brief communication describes a 2-year-old child who presented with delayed achievement and regression of milestones, seizures of multiple types, exaggerated response to sound, inability to see and bilateral cherry red spots. In addition to these typical manifestations of the late infantile variety of Tay-sachs disease, unilateral ptosis was present. The magnetic resonance imaging of brain revealed abnormalities consistent with an advanced stage of the disease.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Doença de Tay-Sachs
/
Tálamo
/
Gânglios da Base
/
Blefaroptose
/
Humanos
/
Masculino
/
Imageamento por Ressonância Magnética
/
Pré-Escolar
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2001
Tipo de documento:
Artigo
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