Aicardi syndrome.
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spasms, absence of the corpus callosum, and chorioretinal lacunae. Still diagnosed clinically, we now recognize an expanded version of this probable X-linked dominant disorder that predominantly affects females. In addition to the classic findings, patients typically experience intractable epilepsy of multiple seizure types, profound mental retardation, and costovertebral anomalies. Associated cerebral and ophthalmologic malformations are numerous. This article highlights several seminal citations involving the history of the initial description and the characteristic ophthalmologic and electroencephalographic features of Aicardi syndrome.
Department of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, DC 20010, USA. trosser@cnmc.org
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D061085:Agenesis of Corpus Callosum; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000235:genetics; D006801:Humans; D012164:Retinal Diseases / Q000151:congenital* / Q000235:genetics; D013035:Spasm / Q000151:congenital* / Q000235:genetics; D013577:Syndrome