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Aicardi syndrome

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Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome. According to Shah et al 2009 the most reliable feature of Aicardi's syndrome is chorioretinal lacunae[1] It occurs almost exclusively in females and males with Klinefelter syndrome [2].


  1. The encyclopaedia of neuropsychological disorders Noggle Dean and Norton 2012 (eds) ISBN 978-0-8261-9854-9

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