Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings.
A patient with Aicardi's syndrome had the complete clinical picture of mental subnormality, convulsions, electroencephalographic disturbances, ocular anomalies, female sex, and agenesis of the corpus callosum. A second patient had the features of the syndrome, with microphthalmia and one patient had the features of the syndrome, with microphthalmia and one depigmented zone. In both cases and in Brihaye's case, no pineal gland was found. Since the epiphysis cerebri is important as a clock for sexual development, its absence may be incompatible with the development of a male fetus. The pathogenesis of the syndrome remains obscure. While an exogenous cause may be at work in some of the cases, the complex and stereotypical character of the symptoms plead for a hereditary origin.
D061085:Agenesis of Corpus Callosum; D002531:Cerebellum / Q000473:pathology; D002831:Choroid Plexus / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D004569:Electroencephalography; D005124:Eye Abnormalities; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000503:physiopathology; D009900:Optic Nerve / Q000473:pathology; D012160:Retina / Q000473:pathology; D012590:Sclera / Q000473:pathology; D013036:Spasms, Infantile / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome