Wang J H, Roan C D, Chang K P, Huang S S, Chi C S, Hwang B T
Zhonghua Yi Xue Za Zhi (Taipei). 1989 Feb;43(2):135-40.
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.
艾卡里迪综合征于1965年由艾卡里迪首次描述，其特征包括婴儿痉挛、胼胝体发育不全、典型的腔隙性脉络膜视网膜病变、智力发育迟缓以及肋椎异常。除澳大利亚报道的1例男性病例外，所有患者均为女性。自1965年以来，文献中报道的艾卡里迪综合征病例约有100多例。该综合征的病因尚不清楚。然而，最可能的原因是X连锁突变事件，半合子男性具有致死性。我们报告1例43日龄女性婴儿，具有艾卡里迪综合征的典型特征，包括屈曲痉挛、胼胝体发育不全、小眼症、特征性脑电图以及特征性腔隙性脉络膜视网膜病变。
