title: Aicardi syndrome with favorable outcome: case report and review.
abstract: Aicardi syndrome is a congenital disorder characterized by severe psychomotor retardation, corpus callosum agenesis, chorioretinal lacunae, and early-onset infantile spasms. The prognosis is generally poor for children with the classical form. We report a peculiar case of Aicardi syndrome characterized by corpus callosum hypoplasia, brain malformations with subependymal heterotopias, extensive chorioretinal lacunae, seizures, and normal cognitive functions. Therefore, the clinical picture of the syndrome is broader than originally described. Cognitive disorders should not be considered inevitable and the prognosis not ineludibly poor.
authors.affiliation: Pediatrics Department, Pediatric Neurology Section, University of Siena, S. Maria alle Scotte Hospital, 53100 Siena, Italy. grosso@unisi.it
authors.forename: S
authors.initials: S
authors.lastname: Grosso
authors.forename: G
authors.initials: G
authors.lastname: Lasorella
authors.forename: A
authors.initials: A
authors.lastname: Russo
authors.forename: P
authors.initials: P
authors.lastname: Galluzzi
authors.forename: G
authors.initials: G
authors.lastname: Morgese
authors.forename: P
authors.initials: P
authors.lastname: Balestri
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D013036:Spasms, Infantile / Q000151:congenital* / Q000473:pathology*