Miller-Fisher syndrome subtype with isolated bilateral mydriasis: a pediatric case report.

IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY
Fengqi Yang, Zhu Tian, Yanhong Lu, Yang Li, Kai Liu
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引用次数: 0

Abstract

Background: Miller-Fisher Syndrome (MFS), a distinct subtype of Guillain-Barré Syndrome (GBS), accounts for 5% of GBS cases and classically manifests with the triad of ophthalmoplegia, ataxia, and areflexia. Isolated bilateral mydriasis as the sole presenting feature is exceptionally rare, particularly in pediatric populations. While pupillary abnormalities have been documented in adult MFS cases, their diagnostic significance and management in children remain poorly characterized. We report a novel pediatric case of a 7-year-old girl presenting with 7 days of unexplained bilateral painless mydriasis unresponsive to light accommodation. Initial symptomatic management targeting potential toxic or neuropathic etiologies proved ineffective. Recognition of this atypical presentation prompted serological evaluation for autoimmune neuropathy markers, which demonstrated positivity for GQ1b IgM, GQ1b IgG, and GT1a IgG antibodies, confirming MFS diagnosis. Rapid clinical improvement followed intravenous immunoglobulin (IVIG) therapy. This case highlights the diagnostic challenges posed by incomplete or atypical MFS manifestations and underscores the necessity of early antibody testing in unexplained autonomic or neurological symptoms.

Conclusion: This report expands the phenotypic spectrum of pediatric MFS by demonstrating isolated bilateral mydriasis as a potential initial manifestation, clinicians evaluating pupillary dilation should consider MFS in differential diagnoses. Future studies should continue to explore the pathophysiological link between anti-GQ1b antibodies and isolated autonomic dysfunction in pediatric MFS.

米勒-费希尔综合征亚型伴孤立的双侧瞳孔:一个儿科病例报告。
背景:米勒-费希尔综合征(Miller-Fisher Syndrome, MFS)是格林-巴勒综合征(GBS)的一种独特亚型,占GBS病例的5%,典型表现为眼麻痹、共济失调和反射松弛。孤立的双侧瞳孔作为唯一的表现特征是非常罕见的,特别是在儿科人群中。虽然瞳孔异常已被记录在成人MFS病例中,但其在儿童中的诊断意义和治疗仍然缺乏特征。我们报告了一个新的儿科病例,一个7岁的女孩提出了7天不明原因的双侧无痛性瞳孔肿大无反应的光调节。最初针对潜在毒性或神经性病因的症状管理被证明无效。对这种非典型表现的认识促使对自身免疫性神经病变标志物进行血清学评估,结果显示GQ1b IgM、GQ1b IgG和GT1a IgG抗体阳性,证实了MFS的诊断。静脉注射免疫球蛋白(IVIG)治疗后临床迅速改善。该病例强调了不完全或非典型MFS表现所带来的诊断挑战,并强调了在不明原因的自主神经或神经症状中进行早期抗体检测的必要性。结论:本报告扩大了儿童MFS的表型谱,证明孤立的双侧瞳孔扩张是一种潜在的初始表现,临床医生在评估瞳孔扩张时应考虑MFS的鉴别诊断。未来的研究应继续探索抗gq1b抗体与小儿MFS中分离的自主神经功能障碍之间的病理生理联系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
BMC Neurology
BMC Neurology 医学-临床神经学
CiteScore
4.20
自引率
0.00%
发文量
428
审稿时长
3-8 weeks
期刊介绍: BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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