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一名患有抗GQ1b综合征的儿童出现完全性双侧眼肌麻痹伴单侧面神经麻痹。

Complete bilateral ophthalmoplegia with unilateral facial palsy in a child with anti-GQ1b syndrome.

作者信息

Kauser Hina, Jain Puneet, Sharma Suvasini, Aneja Satinder

机构信息

Department of Ophthalmology, Hamdard Institute of Medical Sciences & Research, Hamdard University, New Delhi, India.

出版信息

Indian J Pediatr. 2015 Feb;82(2):192-4. doi: 10.1007/s12098-014-1514-4. Epub 2014 Jul 5.

Abstract

The classical phenotype of Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia. However, less extensive forms have been described. The authors report a 14-y-old boy with positive anti-GQ1b antibodies with unusual clinical findings. He presented with headache, double vision and vomiting for 7 d. Examination revealed complete opththalmoplegia, right lower-motor-neuron facial palsy, no limb weakness or cerebellar signs and normal fundus. CSF examination and MRI brain were normal. Electrophysiological studies showed normal limb nerve conduction studies, low CMAP amplitude of right facial nerve, abnormal blink reflex and negative repetitive-nerve-stimulation test. Anti-GQ1b antibodies were positive. The child was managed conservatively with gradual complete recovery. The patients with positive anti-GQ1b antibodies who do not demonstrate the full complement of the Miller Fisher syndrome triad have been reported previously. However, unilateral facial palsy has not been reported previously. This report further expands the phenotypic spectrum of anti-GQ1b syndrome.

摘要

米勒-费希尔综合征的经典表型特征为眼肌麻痹、共济失调和无反射。然而,也有描述过症状较轻的形式。作者报告了一名14岁男孩,抗GQ1b抗体呈阳性,有不寻常的临床表现。他出现头痛、复视和呕吐7天。检查发现完全性眼肌麻痹、右侧下运动神经元性面瘫,无肢体无力或小脑体征,眼底正常。脑脊液检查和脑部磁共振成像均正常。电生理研究显示肢体神经传导研究正常,右侧面神经复合肌肉动作电位(CMAP)波幅低,眨眼反射异常,重复神经电刺激试验阴性。抗GQ1b抗体呈阳性。该患儿经保守治疗后逐渐完全康复。此前曾报道过抗GQ1b抗体呈阳性但未表现出米勒-费希尔综合征全部三联征的患者。然而,此前尚未报道过单侧面瘫的情况。本报告进一步扩展了抗GQ1b综合征的表型谱。

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