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Journal of Child Neurology
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A Male Phenotype With Aicardi Syndrome

Mohammad S. Zubairi, BHSc

Michael G. DeGroote School of Medicine, McMaster University, Hamilton, Ontario

Ronald F. Carter, PhD

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario

Gabriel M. Ronen, MD, MSc

Department of Pediatrics, McMaster University, Hamilton, Ontario, roneng{at}mcmaster.ca

Aicardi syndrome is a rare neurodevelopmental condition that occurs almost exclusively in women. We report a second male phenotype and 47,XXY karyotype with a typical presentation of the Aicardi syndrome including a midline arachnoid cyst.

Key Words: Aicardi syndrome • karyotype • interhemispheric cyst • infantile spasms • neurodevelopmental arrest

Journal of Child Neurology, Vol. 24, No. 2, 204-207 (2009)
DOI: 10.1177/0883073808322337
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