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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 Klinefelter syndrome. | ||
According to shah et al 2009 the most reliable feauture of 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>{{refs}} | |||
{{Wikidata|Q403463}} | {{Wikidata|Q403463}} | ||
Revision as of 00:28, 10 February 2016
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 feauture of Aicardi' s syndrome is chorioretinal lacunae[1]
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