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艾卡迪综合征:一例与松果体囊肿和室间隔缺损相关的罕见病例。

Aicardi syndrome: an unusual case associated with pineal gland cyst and ventricular septal defect.

作者信息

Mutlu Fatih Mehmet, Akin Ridvan, Uysal Yusuf, Unay Bulent, Altinsoy H Ibrahim, Bayraktar M Zeki

机构信息

Department of Ophthalmology, Gülhane Military Academy and Medical School, Ankara, Turkey.

出版信息

J Child Neurol. 2006 Dec;21(12):1082-4. doi: 10.1177/7010.2006.00233.

Abstract

Aicardi syndrome is a cerebroretinal disorder consisting of a heterogeneous spectrum of clinical findings that includes the triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. This report describes a 6-month-old girl who has all of the essential features suggestive of Aicardi syndrome, as well as a pineal gland cyst and ventricular septal defect. Although the characteristic features of Aicardi syndrome have been described, its association with pineal gland cyst and ventricular septal defect has not been reported in the literature.

摘要

艾卡迪综合征是一种脑视网膜疾病,由一系列不同的临床表现组成,包括婴儿痉挛、胼胝体发育不全和脉络膜视网膜缺损三联征。本报告描述了一名6个月大的女孩,她具有提示艾卡迪综合征的所有基本特征,以及松果体囊肿和室间隔缺损。尽管艾卡迪综合征的特征已被描述,但该综合征与松果体囊肿和室间隔缺损的关联在文献中尚未见报道。

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