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[Aicardi综合征的眼部表现]

[Ocular findings in Aicardi syndrome].

作者信息

Mayer U M

机构信息

Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg.

出版信息

Klin Monbl Augenheilkd. 1987 Oct;191(4):304-6. doi: 10.1055/s-2008-1050515.

Abstract

During the last six years the author has seen three new cases of Aicardi's syndrome, which hitherto had only been diagnosed in a total of 15 to 20 cases. One child also had Handmann's anomaly (morning glory syndrome), another a disturbance of leucine metabolism. The ophthalmoscopic findings in the third child were pathogmonomic, so that it was possible to establish the diagnosis before the EEG showed the typical curves, and even before callosal agenesis was shown by CT or vertebral anomalies by X-ray examination.

摘要

在过去六年中,作者见过三例新的艾卡里迪综合征病例,此前总共仅诊断出15至20例。一个孩子还患有汉德曼异常(牵牛花综合征),另一个孩子存在亮氨酸代谢紊乱。第三个孩子的眼底镜检查结果具有诊断特征,因此在脑电图显示典型曲线之前,甚至在CT显示胼胝体发育不全或X线检查显示脊椎异常之前,就有可能做出诊断。

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