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Zhonghua Yi Xue Za Zhi (Taipei) ; 43(2): 135-40, 1989 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-2766069

RESUMEN

The Aicardi syndrome was first described by Aicardi in in 1965, which consisted of infantile spasms, defect of the corpus callosum, a characteristic lacunar chorioretinopathy, mental subnormality, and costovertebral anomalies. All patients have been female except one male case was reported in Australia. There have been approximately over 100 cases of the Aicardi syndrome reported in the literatures since 1965. The etiology of this syndrome is unknown. The most likely cause, however, is an X-linked mutational event with lethality in hemizygous male. We report a 43-day-old female infant with classic features of Aicardi syndrome including flexion spasms, dysgenesis of corpus callosum, microphthalmia, characteristic EEG, and characteristic lacunar chorioretinopathy.


Asunto(s)
Agenesia del Cuerpo Calloso , Coroides , Enfermedades de la Retina , Espasmos Infantiles , Electroencefalografía , Femenino , Ligamiento Genético , Humanos , Lactante , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/genética , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/genética , Síndrome , Tomografía Computarizada por Rayos X , Enfermedades de la Úvea/diagnóstico , Enfermedades de la Úvea/genética , Cromosoma X
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