Aicardi S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/AICARDIS SYNDRO
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Aicardi's syndrome, (J Aicardi, 20th century, French neurologist), X-linked dominant disorder consisting of infantile spasms, callosal agenesis or hypogenesis, chorioretinopathy, and an abnormal EEG. The syndrome occurs almost exclusively in females with no family history of ophthalmological or neurological disease. Affected patients must have two X chromosomes, so that patients with Kleinfelter's syndrome (47 XXY) can also have it. Intracranial anomalies include callosal hypogenesis ( Fig.1 ) (typically associated with interhemispheric cysts), grey matter heterotopia cortical dysplasia , posterior fossa cysts, cerebellar hypoplasia, choroid plexus papillomas , and microphthalmia. Ophthalmologic examination reveals characteristic chorioretinal lacunae, resulting from retinal dysplasia, and ocular colobomata. Myelination may be delayed. MR examination clearly demonstrates all these features.