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家族性先天性动眼神经失用症:临床及眼电图特征

Familial congenital oculomotor apraxia: clinical and electro-oculographic features.

作者信息

Orssaud Christophe, Ingster-Moati Isabelle, Roche Olivier, Bui Quoc Emmanuel, Dufier Jean Louis

机构信息

Service d'Ophtalmologie, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.

出版信息

Eur J Paediatr Neurol. 2009 Jul;13(4):370-2. doi: 10.1016/j.ejpn.2008.06.006. Epub 2008 Aug 13.

Abstract

The electro-oculographic (EOG) features of both horizontal and vertical eye movements in congenital oculomotor apraxia (COMA) were not previously reported. A girl referred to the ophthalmologic department for abnormal eye movements was diagnosed as COMA. The same abnormal ocular movements were observed in her younger sister and her father who was unaware of his difficulties to initiate voluntary saccades. When performed, EOG recordings of all horizontal and vertical saccadic eye movements were severely altered whatever the age of the patient. Pursuit was normal for these patients. It confirms that the control of saccadic eye movements is still altered in adults in both directions horizontal and vertical that were never reported. EOG is necessary to rule out inherited form of this saccade initiation failure.

摘要

先天性眼球运动失用症(COMA)中水平和垂直眼球运动的眼电图(EOG)特征此前未见报道。一名因眼球运动异常转诊至眼科的女孩被诊断为COMA。在她的妹妹以及未意识到自己启动随意扫视存在困难的父亲身上也观察到了同样的异常眼球运动。无论患者年龄多大,所有水平和垂直扫视性眼球运动的EOG记录在进行时均严重异常。这些患者的跟踪运动正常。这证实了在成人中,水平和垂直两个方向的扫视性眼球运动控制仍然异常,这是此前从未报道过的。EOG对于排除这种扫视启动失败的遗传形式很有必要。

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