Neuropediatrics 2007; 38(4): 188-192
DOI: 10.1055/s-2007-991146
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Aicardi Syndrome: Follow-Up Investigation of Swedish Children Born in 1975-2002

L. Palmér 1 , B. Zetterlund 2 , A-L. Hård 3 , K. Steneryd 4 , M. Kyllerman 5
  • 1Department of Paediatrics, Umeå University Hospital, Umeå, Sweden
  • 2Department of Neurophysiology, Umeå University Hospital, Umeå, Sweden
  • 3Department of Ophthalmology, Queen Silvia Children's Hospital, University of Gothenburg, Göteborg, Sweden
  • 4Department of Radiology, Queen Silvia Children's Hospital, University of Gothenburg, Göteborg, Sweden
  • 5Department of Paediatric Neurology, Queen Silvia Children's Hospital, University of Gothenburg, Göteborg, Sweden
Further Information

Publication History

received 07.06.2007

accepted 05.09.2007

Publication Date:
04 December 2007 (online)

Abstract

Aicardi syndrome has been defined by the triad of agenesis of the corpus callosum, early seizure onset and lacunar chorioretinopathy. In a nation-wide survey a total of 18 Swedish cases were found. Fourteen girls were re-examined by one of the authors at the ages of 1-27 years. One was seizure free following epilepsy surgery operation, 13 were drug resistant. Two were on ketogenic diet. Most of the girls had multifocal EEG discharges. All except one were severely disabled with severe mental retardation and total dependency on helpers for activities of daily life. Communication, nutrition, and motor function were severely affected areas. Visual function was difficult to evaluate because of mental retardation and lack of co-operation and varied from severely impaired to normal. In one case the appearance of the ocular fundus was documented to have changed with time. One girl was exceptional and seizure free with mild mental retardation. An update by March 2006 showed that 12/18 patients were still alive, at a median age of 13.5 years (range: 3-31 years). Six had died between the ages of 3-10 years. They had all suffered from intractable epilepsy and belonged to the most disabled group. Surprisingly two had died from malignant brain tumours.

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Correspondence

Dr. L. Palmér

Department of Paediatrics

Umeå University Hospital

901 85 Umeå

Sweden

Phone: +46/90/785 10 00

Fax: +46/90/785 17 17

Email: lars.palmer@vll.se