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孤立性先天性面神经发育不全。

Isolated congenital facial nerve agenesis.

作者信息

Gill Amarit Kay, Raghavan Ashok, Bhargava Eishaan Kamta

机构信息

Sheffield Children's Hospital NHS Foundation Trust, Sheffield, England.

出版信息

BJR Case Rep. 2023 May 15;9(3):20220119. doi: 10.1259/bjrcr.20220119. eCollection 2023 May.

Abstract

An otherwise healthy 2-month-old boy was referred to ENT for a congenital right facial palsy, with a birth history of difficult ventouse delivery. Initially, a traumatic cause was suspected, however subsequent MR 3D-FIESTA ( weighted) imaging demonstrated a right facial nerve agenesis with normal appearances of the remainder of the brain parenchyma, cranial nerves and parotid glands. There were no syndromic features or hearing difficulties. Isolated congenital nerve agenesis is a rare condition, with very few case reports available in the literature. Pre-natal 4D ultrasound imaging further supports the diagnosis. To our knowledge, this is the first published pre-natal ultrasound image of congenital facial nerve palsy. The infant has been referred for consideration of nerve reconstruction surgery, and is receiving multi-disciplinary input from ENT, Physiotherapy and Ophthalmology, the latter for prevention of exposure keratitis.

摘要

一名原本健康的2个月大男婴因先天性右侧面瘫被转诊至耳鼻喉科,其出生时有产钳助产困难史。最初怀疑是创伤性原因,但随后的磁共振三维快速成像稳态进动序列(加权)成像显示右侧面神经发育不全,脑实质、颅神经和腮腺的其余部分外观正常。没有综合征特征或听力障碍。孤立性先天性神经发育不全是一种罕见疾病,文献中仅有极少数病例报告。产前四维超声成像进一步支持了诊断。据我们所知,这是首次发表的先天性面瘫产前超声图像。该婴儿已被转诊考虑进行神经重建手术,并正在接受耳鼻喉科、物理治疗和眼科的多学科治疗,后者是为了预防暴露性角膜炎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5ba/10230233/010cecdd971f/bjrcr.20220119.g001.jpg

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