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脉络膜视网膜缺损:Aicardi综合征的特征性表现。

Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome.

作者信息

Guerriero Silvana, Sciruicchio Vittorio, De Blasi Roberto, Furino Claudio, Smaldone Giuseppe, Ciracì Lorenza, Galeone Dante

机构信息

Department of Ophthalmology and O.R.L., University of Bari, Bari, Italy.

出版信息

J Pediatr Ophthalmol Strabismus. 2010 May 21;47 Online:e1-3. doi: 10.3928/01913913-20100324-03.

Abstract

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are always present and are pathognomonic.

摘要

艾卡迪综合征的特征是胼胝体发育不全、脉络膜视网膜缺损和婴儿痉挛症。作者描述了一名患有脉络膜视网膜缺损、癫痫发作和脑囊肿但胼胝体正常的女孩病例。文献中报道了艾卡迪综合征的不完全形式,但典型的脉络膜缺损总是存在且具有诊断意义。

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引用本文的文献

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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Prenat Diagn. 2022 Apr;42(4):484-494. doi: 10.1002/pd.6085. Epub 2022 Jan 10.
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