[The Aicardi syndrome].
The authors present a case of a girl who showed flexion spasms, chorio-retinopathy and agenesis of corpus callosum, an association known as the Aicardi syndrome. They have made a wide revision of the literature, examining in detail the clinical aspects and diagnosis with other malformations and infections. Lastly, they comment the aspects of etiology and pathology of the disease which still remain unclear.
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D002825:Chorioretinitis / Q000473:pathology*; D003103:Coloboma / Q000473:pathology; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D013036:Spasms, Infantile / Q000209:etiology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Síndrome de Aicardi.