Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies).
A case of Aicardi's syndrome is reported. A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic eye lesions, vertebral anomalies and abnormal EEG pattern. The results of supporting examination and investigations are noted.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D012160:Retina / Q000002:abnormalities*; D013036:Spasms, Infantile / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed