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Arch Pediatr ; 18(9): 970-3, 2011 Sep.
Article in French | MEDLINE | ID: mdl-21820292

ABSTRACT

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.


Subject(s)
Aicardi Syndrome/complications , Aicardi Syndrome/diagnosis , Blepharoptosis/congenital , Blepharoptosis/complications , Brain/pathology , Agenesis of Corpus Callosum/complications , Agenesis of Corpus Callosum/diagnosis , Agenesis of Corpus Callosum/genetics , Aicardi Syndrome/drug therapy , Aicardi Syndrome/genetics , Aicardi Syndrome/pathology , Anticonvulsants/therapeutic use , Cerebellum/pathology , Drug Therapy, Combination , Female , Glucocorticoids/therapeutic use , Humans , Infant , Malformations of Cortical Development/complications , Malformations of Cortical Development/diagnosis , Malformations of Cortical Development/genetics , Pons/pathology , Prognosis , Risk Factors , Spasms, Infantile/diagnosis , Vigabatrin/therapeutic use
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