Ptosis in late infantile Tay-Sachs disease.
Indian J Pediatr
;
2001 May; 68(5): 463-5
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Maladie de Tay-Sachs
/
Thalamus
/
Noyaux gris centraux
/
Blépharoptose
/
Humains
/
Mâle
/
Imagerie par résonance magnétique
/
Enfant d'âge préscolaire
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2001
Type:
Article
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