title: [Aicardi syndrome associated with severe congenital ptosis].
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.
authors.affiliation: Service de pédiatrie, CHU Hédi-Chaker, Sfax, Tunisie. chabchoubimen@yahoo.fr
authors.forename: I
authors.initials: I
authors.lastname: Chabchoub
authors.forename: F
authors.initials: F
authors.lastname: Kamoun
authors.forename: E
authors.initials: E
authors.lastname: Daoued
authors.forename: L
authors.initials: L
authors.lastname: Ben Mansour
authors.forename: S
authors.initials: S
authors.lastname: Kmiha
authors.forename: T
authors.initials: T
authors.lastname: Kamoun
authors.forename: Z
authors.initials: Z
authors.lastname: Mnif
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D058540:Aicardi Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D000927:Anticonvulsants / Q000627:therapeutic use; D001763:Blepharoptosis / Q000150:complications* / Q000151:congenital*; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D004359:Drug Therapy, Combination; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D011149:Pons / Q000473:pathology; D011379:Prognosis; D012307:Risk Factors; D013036:Spasms, Infantile / Q000175:diagnosis; D020888:Vigabatrin / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D005938:Glucocorticoids; D020888:Vigabatrin