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吉兰-巴雷综合征的非典型重叠表现:一例病例报告的经验教训

Atypical Overlap Presentation in Guillain-Barré Syndrome: Lessons From a Case Report.

作者信息

Sharma Arpita, Singhal Saurabh, Vishnoi Vishal, Sethi Yashendra

机构信息

Department of Internal Medicine, Subharti Medical College, Meerut, IND.

出版信息

Cureus. 2025 May 5;17(5):e83517. doi: 10.7759/cureus.83517. eCollection 2025 May.

Abstract

Guillain-Barré syndrome (GBS) is an acute, immune-mediated polyradiculoneuropathy characterized by rapidly progressive limb weakness and areflexia. While the classical form is well-recognized, variants such as Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE) also exist, each with distinct clinical features. Rarely, these syndromes may present in combination, forming GBS-MFS-BBE overlap syndromes. These atypical presentations pose significant diagnostic challenges that may delay the initiation of appropriate treatment. We report the case of a 60-year-old male who initially presented with pain and weakness of the left upper limb, which progressed rapidly over 72 hours to symmetrical quadriplegia, bulbar dysfunction (including dysphagia and dysarthria), complete ophthalmoplegia, and altered sensorium suggestive of encephalopathy. Neurological examination revealed areflexia and bilateral facial weakness. Initial nerve conduction studies (NCSs) indicated a possible axonal plexopathy; however, follow-up NCSs performed on day 5 showed findings consistent with acute inflammatory demyelinating polyneuropathy. Given the combination of ophthalmoplegia, ataxia, encephalopathy, and demyelinating features, the diagnosis of a GBS-MFS-BBE overlap syndrome was made. The patient was treated with intravenous immunoglobulin (IVIG) at a total dose of 2 g/kg administered over five days. Due to progressive respiratory failure, he required mechanical ventilation. Supportive care included intensive monitoring and physiotherapy. Neurological recovery was gradual, with successful weaning from the ventilator by day 25. At discharge on day 30, the patient had improved to a Medical Research Council (MRC) grade of 3/5 in all four limbs. This case illustrates the clinical complexity and diagnostic uncertainty associated with GBS-MFS-BBE overlap syndromes. Early recognition and prompt initiation of immunotherapy, such as IVIG, are essential to improving outcomes and reducing long-term morbidity. Clinicians should maintain a high index of suspicion for atypical features, particularly in rapidly evolving neuromuscular presentations.

摘要

吉兰 - 巴雷综合征(GBS)是一种急性、免疫介导的多发性神经根神经病,其特征为肢体无力迅速进展和腱反射消失。虽然经典形式已广为人知,但诸如米勒 - 费希尔综合征(MFS)和比克斯特法夫脑干脑炎(BBE)等变体也存在,每种都有独特的临床特征。这些综合征很少会合并出现,形成GBS - MFS - BBE重叠综合征。这些非典型表现带来了重大的诊断挑战,可能会延迟适当治疗的开始。我们报告了一例60岁男性病例,该患者最初表现为左上肢疼痛和无力,在72小时内迅速进展为对称性四肢瘫、延髓功能障碍(包括吞咽困难和构音障碍)以及完全性眼肌麻痹,并伴有提示脑病的意识改变。神经系统检查发现腱反射消失和双侧面部无力。最初的神经传导研究(NCS)表明可能存在轴索性神经丛病;然而,在第5天进行的后续NCS显示结果与急性炎症性脱髓鞘性多发性神经病一致。鉴于眼肌麻痹、共济失调、脑病和脱髓鞘特征的组合,诊断为GBS - MFS - BBE重叠综合征。患者接受了静脉注射免疫球蛋白(IVIG)治疗,总剂量为2 g/kg,分五天给药。由于进行性呼吸衰竭,他需要机械通气。支持性护理包括密切监测和物理治疗。神经功能逐渐恢复,到第25天成功脱机。在第30天出院时,患者四肢肌力改善至医学研究委员会(MRC)3/5级。该病例说明了与GBS - MFS - BBE重叠综合征相关的临床复杂性和诊断不确定性。早期识别并及时开始免疫治疗,如IVIG,对于改善预后和降低长期发病率至关重要。临床医生应对非典型特征保持高度怀疑,尤其是在快速进展的神经肌肉表现中。

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