Chappelow Aimee V, Reid Janet, Parikh Sumit, Traboulsi Elias I
Cleveland Clinic, Cole Eye Institute, Cleveland 44195, USA.
Ophthalmic Genet. 2008 Dec;29(4):181-3. doi: 10.1080/13816810802320209.
Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male. Thus a dominant X-linked inheritance, presumed lethal in males, has been proposed. Herein we report a 5 year-old 46 XY male with the classic clinical triad of Aicardi syndrome.
艾卡迪综合征最初被描述为胼胝体部分或完全发育不全、婴儿痉挛以及特征性脉络膜视网膜缺损三联征。自1965年首次描述以来，在报告的约200例病例中，尚无关于46 XY男性患艾卡迪综合征的确切报道。因此，有人提出其为X连锁显性遗传，推测对男性具有致死性。在此，我们报告一名患有艾卡迪综合征典型临床三联征的5岁46 XY男性。
