Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.
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.
Matlary
Arpad
A
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.
Prescott
Trine
T
Tvedt
Bjørn
B
Lindberg
Knut
K
Server
Andres
A
Aicardi
Jean
J
Strømme
Petter
P
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*