Aicardi's syndrome; radiologic manifestations.
Features of Aicardi's syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the corpus callosum with heterotopia of gray matter, and characteristic electroencephalographic findings. Vertebral abnormalities are also part of the syndrome, which is apparently limited to female infants. Subnormal mental development appears in all cases. It was first described in 1969 in French. Isolated cases in the literature have been associated with facial asymmetry, plagiocephaly, and the Dandy-Walker syndrome. Experience with two patients suggests that a search for cases among patients with chorioretinopathy and infantile spasms will show the syndrome to be more common than currently reported.
D061085:Agenesis of Corpus Callosum; D001921:Brain; D002825:Chorioretinitis / Q000000981:diagnostic imaging*; D002828:Choristoma / Q000000981:diagnostic imaging; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D012886:Skull / Q000000981:diagnostic imaging; D013036:Spasms, Infantile / Q000000981:diagnostic imaging*; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed