Neurosonographic features of Aicardi's syndrome.
Aicardi's syndrome occurs in females and is associated with profound mental retardation, agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. We report a distinctive combination of abnormalities which was observed on real-time cranial ultrasound scans of two infants with Aicardi's syndrome. These abnormalities include bilateral prominent cysts in the choroid plexus in conjunction with agenesis of the corpus callosum. Recognition of these radiologic findings may suggest the diagnosis of Aicardi's syndrome in early infancy even prior to the onset of seizures or visualization of chorioretinal lacunae.
Roland
E H
EH
Department of Pediatrics, University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada.
Flodmark
O
O
Hill
A
A
D061085:Agenesis of Corpus Callosum; D002831:Choroid Plexus / Q000002:abnormalities / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D003560:Cysts / Q000151:congenital / Q000175:diagnosis; D004453:Echoencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014057:Tomography, X-Ray Computed