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Aicardi syndrome: Difference between revisions
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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. | 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 [[Harry Klinefelter Klinefelter]] syndrome. | ||
According to Shah et al 2009 the most reliable feature of [[Jean Aicardi|Aicardi]]'s syndrome is chorioretinal lacunae<ref>The encyclopaedia of neuropsychological disorders Noggle Dean and Norton 2012 (eds) ISBN 978-0-8261-9854-9</ref> | According to Shah et al 2009 the most reliable feature of [[Jean Aicardi|Aicardi]]'s syndrome is chorioretinal lacunae<ref>The encyclopaedia of neuropsychological disorders Noggle Dean and Norton 2012 (eds) ISBN 978-0-8261-9854-9</ref> | ||
It occurs almost exclusively in females and males with [[Klinefelter syndrome]] | It occurs almost exclusively in females and males with [[Klinefelter syndrome]] | ||
Revision as of 00:43, 18 May 2017
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 Harry Klinefelter 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].
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