[Ocular findings in Aicardi syndrome].
During the last six years the author has seen three new cases of Aicardi's syndrome, which hitherto had only been diagnosed in a total of 15 to 20 cases. One child also had Handmann's anomaly (morning glory syndrome), another a disturbance of leucine metabolism. The ophthalmoscopic findings in the third child were pathogmonomic, so that it was possible to establish the diagnosis before the EEG showed the typical curves, and even before callosal agenesis was shown by CT or vertebral anomalies by X-ray examination.
D000015:Abnormalities, Multiple / Q000209:etiology; D061085:Agenesis of Corpus Callosum; D004569:Electroencephalography; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000151:congenital; D009896:Optic Atrophy / Q000151:congenital; D012160:Retina / Q000002:abnormalities; D013036:Spasms, Infantile / Q000151:congenital*; D013577:Syndrome
Augenbefunde beim Aicardi-Syndrom.