title: Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.
abstract: We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and hypopigmented chorioretinal lacunae in both fundi typical of Aicardi syndrome. She has never had epilepsy and the EEG has always been normal, observations not reported previously in Aicardi syndrome. She was mildly mentally retarded with a full scale IQ of 61. The patient exhibited an unusually mild Aicardi syndrome phenotype.
authors.affiliation: Department of Paediatrics Department of Medical Genetics Department of Ophthalmology Department for Paediatric Neuroradiology, Ullevål University Hospital, Oslo, Norway Department for Paediatric Neurology and Metabolic Disorders, University Hospital Robert Debré, Paris, France.
authors.forename: Arpad
authors.initials: A
authors.lastname: Matlary
authors.forename: Trine
authors.initials: T
authors.lastname: Prescott
authors.forename: Bjørn
authors.initials: B
authors.lastname: Tvedt
authors.forename: Knut
authors.initials: K
authors.lastname: Lindberg
authors.forename: Andres
authors.initials: A
authors.lastname: Server
authors.forename: Jean
authors.initials: J
authors.lastname: Aicardi
authors.forename: Petter
authors.initials: P
authors.lastname: Strømme
mesh_terms: D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D002658:Developmental Disabilities / Q000503:physiopathology*; D004569:Electroencephalography; D004827:Epilepsy; D005260:Female; D006801:Humans; D007223:Infant; D011859:Radiography; D012160:Retina / Q000002:abnormalities*; D012600:Scoliosis / Q000503:physiopathology*