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伴有舌下神经麻痹、并指畸形、短指畸形和屈光参差性弱视的梅比厄斯综合征

Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia.

作者信息

Ali Muhammad Hassaan, Jamal Samreen, Rashid Muhammad Ather, Javaid Usman, Butt Nadeem Hafeez

机构信息

Department of Ophthalmology, UCLA Stein Eye Institute.

Ophthalmology, King Edward Medical University(KEMU)/Mayo Hospital Lahore,Pakistan.

出版信息

Cureus. 2018 Mar 16;10(3):e2334. doi: 10.7759/cureus.2334.

Abstract

Moebius syndrome is a rare cause of congenital facial and abducens palsy.It is sometimes associated with musculoskeletal abnormalities and other cranial nerve palsies. Genetics and ischemic insults to the fetus are considered to be the cause of this syndrome. We report here a 12-year-old female patient who was presented to us with poor cosmesis of her face, with associated decreased vision and lagophthalmos in her left eye. She didn't have any signs of exposure keratopathy in the affected eye. Her best-corrected vision was 20/20 and 20/60 in right and left eyes respectively. The cause of decreased vision in her left eye was found to be anisometropic amblyopia, due to asymmetric hyperopic astigmatism in her eyes. She did not report diplopia in any gaze position. Examination of her cranial nerve revealed left facial, abducens, and hypoglossal nerve palsy, leading us to the diagnosis of Moebius syndrome. Apart from that, she had syndactyly in one of her hands, and brachydactyly in both. Since the eyes were straight in their primary position, no surgical intervention was carried out for her lagophthalmos, which was measured to be only 2 mm. This was to prevent any post-operative iatrogenic ptosis. The condition requires a multidisciplinary approach involving the opinions of a neuro-ophthalmologist, strabismologist, and oculoplastics for the management of the complications associated with the disease.

摘要

梅比厄斯综合征是先天性面瘫和展神经麻痹的罕见病因。它有时与肌肉骨骼异常及其他脑神经麻痹相关。胎儿的遗传因素和缺血性损伤被认为是该综合征的病因。我们在此报告一名12岁女性患者,她因面部美容效果差前来就诊,伴有左眼视力下降和兔眼症。患眼没有任何暴露性角膜病变的迹象。她的最佳矫正视力右眼为20/20,左眼为20/60。发现她左眼视力下降的原因是屈光参差性弱视,这是由于双眼不对称性远视散光所致。她在任何注视位均未报告复视。对她的脑神经检查发现左侧面神经、展神经和舌下神经麻痹,从而确诊为梅比厄斯综合征。除此之外,她一只手有并指畸形,双手均有短指畸形。由于双眼在第一眼位时是正位的,对于她测量仅为2毫米的兔眼症未进行手术干预,这是为了防止任何术后医源性上睑下垂。该疾病的治疗需要多学科方法,涉及神经眼科医生、斜视专家和眼科整形医生对与该疾病相关并发症的处理意见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdfd/5955715/35c5c9c3eee2/cureus-0010-00000002334-i01.jpg

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