Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies.
Aicardi's syndrome consists of abnormalities of the ocular fundus, myoclonic seizures, mental retardation, and congenital malformations of the brain and vertebral column in females. The pathognomonic chorioretinal lesions were noted on ophthalmologic examination of a 22-month-old girl, observed for 19 months with severe myoclonic seizures and profound mental retardation. Computerized tomography confirmed major malformation of the brain. Roentgenograms showed anterior fusion of two thoracic vertebrae. Electroretinography was normal, but visual evoked responses were abnormal. Only 72 children are known to have this syndrome; no affected siblings have been reported. The absolute sex limitation--all cases have been female--suggests that the disorder is produced by a mutation on one of the X chromosomes, and is nonviable in male conceptuses. These genetic considerations dramatically influence counseling of parents regarding likelihood of occurrence of the syndrome in subsequent offspring.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000503:physiopathology; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology; D002829:Choroid; D005071:Evoked Potentials; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D009207:Myoclonus / Q000150:complications* / Q000503:physiopathology; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D013904:Thoracic Vertebrae / Q000002:abnormalities*; D014603:Uveal Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology