伴有全面发育迟缓的难治性癫痫发作：一种罕见病因。
Refractory seizures with global developmental delay: A rare cause.
作者信息
Vinoth P N, Chacko Betty, Scott J Julius Xavier
机构信息
Department of Pediatrics, Sri Ramachandra Medical College, Chennai, India.
出版信息
Indian J Hum Genet. 2011 Sep;17(3):226-8. doi: 10.4103/0971-6866.92099.
Abstract
Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.
摘要
艾卡迪综合征是一种遗传性疾病，其特征为屈曲型婴儿痉挛、胼胝体发育不全和眼部异常（脉络膜视网膜缺损、视盘缺损）三联征。我们报告一例具有所有典型特征的艾卡迪综合征典型病例。
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