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先天性三叉神经麻醉:儿童视力丧失的一种罕见可预防原因。

Congenital trigeminal anaesthesia: a rare preventable cause of visual loss in children.

作者信息

Iyer Anand, Hassan Eusra, Newman William, Kneen Rachel

机构信息

Littlewood Neurosciences Unit, Department of Ophthalmology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

出版信息

BMJ Case Rep. 2012 Jul 3;2012:bcr0320125955. doi: 10.1136/bcr.03.2012.5955.

Abstract

Congenital trigeminal anaesthesia (CTA) is a rare condition characterised by a congenital deficit involving all or part of the sensory component of the trigeminal nerve in children. It is a heterogeneous condition that can present in isolation or is associated with congenital abnormalities affecting the mesoderm, ectoderm and/or brainstem. The authors report a case of a 4-year-old girl who presented with reduced visual acuity, painless bilateral keratitis and painless non-healing lesions on the face, who was confirmed to have CTA on detailed neurophysiological investigations. She also had associated unilateral renal dysplasia and Duane syndrome. The authors also discuss an up-to-date review of the published cases of CTA in literature, the first of which was reported as early as 1984.

摘要

先天性三叉神经麻醉(CTA)是一种罕见病症,其特征为儿童三叉神经感觉成分的全部或部分先天性缺陷。它是一种异质性病症,可单独出现或与影响中胚层、外胚层和/或脑干的先天性异常相关。作者报告了一例4岁女孩的病例,该女孩出现视力下降、双侧无痛性角膜炎以及面部无痛性不愈合病变,经详细神经生理学检查确诊为CTA。她还伴有单侧肾发育不全和杜安综合征。作者还讨论了对文献中已发表的CTA病例的最新综述,其中首例报告于1984年。

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