Aicardi syndrome associated with severe congenital ptosis

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie Vol. 18; no. 9; pp. 970 - 973
• Main Authors: Chabchoub, I, Kamoun, F, Daoued, E, Ben Mansour, L, Kmiha, S, Kamoun, T, Mnif, Z, Hachicha, M
• Format: Journal Article
• Language: French
• Published: France 01-09-2011
• Subjects: Agenesis of Corpus Callosum - complications; Agenesis of Corpus Callosum - diagnosis; Agenesis of Corpus Callosum - genetics; Aicardi Syndrome - complications; Aicardi Syndrome - diagnosis; Aicardi Syndrome - drug therapy; Aicardi Syndrome - genetics; Aicardi Syndrome - pathology; Anticonvulsants - therapeutic use; Blepharoptosis - complications; Blepharoptosis - congenital; Brain - pathology; 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
• ISSN: 1769-664X
• DOI: 10.1016/j.arcped.2011.06.004

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.