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伴有孤立性双侧瞳孔散大的米勒-费希尔综合征亚型:一例儿科病例报告

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

作者信息

Yang Fengqi, Tian Zhu, Lu Yanhong, Li Yang, Liu Kai

机构信息

Comprehensive pediatrics, Kunming Children's Hospital, No.28, Shulin Street, Kunming, 650103, Yunnan Province, China.

出版信息

BMC Neurol. 2025 Apr 16;25(1):166. doi: 10.1186/s12883-025-04180-x.

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.

摘要

背景

米勒-费希尔综合征(MFS)是吉兰-巴雷综合征(GBS)的一种独特亚型,占GBS病例的5%,典型表现为眼肌麻痹、共济失调和腱反射消失三联征。以孤立性双侧瞳孔散大作为唯一表现极为罕见,尤其是在儿童群体中。虽然在成人MFS病例中已记录到瞳孔异常,但其在儿童中的诊断意义和管理仍缺乏明确特征。我们报告了一例7岁女童的新病例,该患儿出现7天不明原因的双侧无痛性瞳孔散大,对光和调节无反应。针对潜在中毒或神经病变病因的初始对症治疗无效。认识到这种非典型表现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抗体呈阳性,确诊为MFS。静脉注射免疫球蛋白(IVIG)治疗后临床迅速改善。该病例突出了不完全或非典型MFS表现带来的诊断挑战,并强调了对不明原因的自主神经或神经症状进行早期抗体检测的必要性。

结论

本报告通过证明孤立性双侧瞳孔散大作为潜在的初始表现,扩展了儿童MFS的表型谱,评估瞳孔散大的临床医生在鉴别诊断时应考虑MFS。未来的研究应继续探索抗GQ1b抗体与儿童MFS中孤立性自主神经功能障碍之间的病理生理联系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81ef/12004657/63e11b3fa867/12883_2025_4180_Fig1_HTML.jpg

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