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Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG

Matlary, Arpada; Prescott, Trineb; Tvedt, Bjørna; Lindberg, Knutc; Server, Andresd; Aicardi, Jeane; Strømme, Pettera

Case Reports

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.

aDepartment of Paediatrics

bDepartment of Medical Genetics

cDepartment of Ophthalmology

dDepartment for Paediatric Neuroradiology, Ullevål University Hospital, Oslo, Norway

eDepartment for Paediatric Neurology and Metabolic Disorders, University Hospital Robert Debré, Paris, France

Correspondence and requests for reprints to Dr Petter Strømme, Department of Paediatrics, Ullevål University Hospital, NO-0407 Oslo, Norway

Tel: +47 23015234; fax: +47 23015790; e-mail: petter.stromme@medisin.uio.no

Received 22 March 2004 Accepted 29 June 2004

© 2004 Lippincott Williams & Wilkins, Inc.