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Archives de pédiatrie
Volume 18, n° 9
pages 970-973 (septembre 2011)
Doi : 10.1016/j.arcped.2011.06.004
Received : 28 May 2010 ;  accepted : 11 June 2011
Un syndrome d’Aicardi associé à un ptosis congénital sévère
Aicardi syndrome associated with severe congenital ptosis
 

I. Chabchoub a, , F. Kamoun a, E. Daoued b, L. Ben Mansour a, S. Kmiha a, T. Kamoun a, Z. Mnif b, M. Hachicha a
a Service de pédiatrie, CHU Hédi-Chaker, Sfax, Tunisie 
b Service de radiologie, CHU Hédi-Chaker, Sfax, Tunisie 

Auteur correspondant.
Résumé

Le syndrome d’Aicardi est un désordre neurodéveloppemental rare. Grâce aux développements des techniques de l’imagerie par résonance magnétique, de nombreuses malformations cérébrales avec des expressions cliniques multiples sont décrites et viennent s’ajouter à la triade classique associant : spasmes infantiles précoces, lacunes choriorétiniennes et agénésie du corps calleux. Nous rapportons le cas d’une observation particulière de syndrome d’Aicardi caractérisée par l’association à la triade classique d’un ptosis bilatéral sévère, une hypoplasie du pont et du vermis et d’une polymicrogyrie périsylvienne bilatérale chez une enfant issue d’un couple jeune non consanguin sans antécédents familiaux particuliers à part une épilepsie généralisée idiopathique chez la mère.

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Summary

Aicardi syndrome is a rare neurodevelopmental disorder characterized by corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms. We report a particular case of Aicardi syndrome characterized by the association of the classical triad of severe bilateral ptosis, pontocerebellar hypoplasia, and perisylvian polymicrogyria in a girl born to non-consanguineous parents, but whose mother suffered from idiopathic generalized epilepsy.

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