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[Lambert-Eaton Myasthenic Syndrome].[兰伯特-伊顿肌无力综合征]
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Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disorders.自身免疫性神经肌肉接头疾病的流行病学、诊断和生物标志物。
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A Rare Presentation of a Rare Disease: Oropharyngeal Dysphagia as The Main Manifestation of Myasthenia Gravis.一种罕见疾病的罕见表现:以口咽吞咽困难为主要表现的重症肌无力
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Lambert-Eaton Myasthenic syndrome: early diagnosis is key.兰伯特-伊顿肌无力综合征:早期诊断是关键。
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Lambert-eaton myasthenic syndrome; pathogenesis, diagnosis, and therapy.兰伯特-伊顿肌无力综合征;发病机制、诊断与治疗。
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一例罕见的伴有言语困难和构音障碍的兰伯特-伊顿肌无力综合征病例。

A Rare Case of Lambert-Eaton Myasthenia Syndrome With Dysphasia and Dysarthria.

作者信息

Harimohan Hridya, Yasonova Mia, Sukkar Marah, Sabetian Katayoun

机构信息

Internal Medicine, Kern Medical, Bakersfield, USA.

Neurology, Kern Medical, Bakersfield, USA.

出版信息

Cureus. 2025 Jun 24;17(6):e86700. doi: 10.7759/cureus.86700. eCollection 2025 Jun.

DOI:10.7759/cureus.86700
PMID:40574941
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12198923/
Abstract

Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder resulting in muscle weakness. LEMS typically presents with progressive proximal muscle weakness, especially in the lower extremities, areflexia, and autonomic dysfunction. Bulbar involvement and respiratory compromise tend to occur later in the disease course and usually in severe, advanced cases. We report a unique case of a 50-year-old male with a known history of LEMS, autoimmune retinopathy, erectile dysfunction, and prediabetes who presented with progressive bulbar symptoms - slurred speech and difficulty swallowing - without accompanying weakness in the upper or lower extremities. Despite receiving four doses of intravenous immunoglobulin (IVIG) prior to admission with no improvement, he showed a significant clinical response to six sessions of plasmapheresis. Notably, the absence of limb weakness and preserved motor strength throughout his hospital stay raised diagnostic uncertainty, prompting evaluation for myasthenia gravis, which was ruled out through negative acetylcholine receptor antibody testing and reaffirmed voltage-gated calcium channel (VGCC) antibody positivity. Chest imaging showed no underlying malignancy. This case illustrates an atypical LEMS presentation dominated by severe bulbar dysfunction in the absence of limb involvement or respiratory failure, which is uncommon and may mimic other neuromuscular junction disorders such as myasthenia gravis. The favorable response to plasmapheresis emphasizes the importance of early recognition and aggressive immunomodulatory treatment in preventing clinical deterioration. Clinicians should maintain a high index of suspicion for LEMS even in unusual presentations to ensure timely and appropriate management.

摘要

兰伯特-伊顿肌无力综合征(LEMS)是一种罕见的自身免疫性疾病,可导致肌肉无力。LEMS通常表现为进行性近端肌肉无力,尤其是下肢,无反射,以及自主神经功能障碍。延髓受累和呼吸功能受损往往在疾病进程后期出现,通常见于严重的晚期病例。我们报告了一例独特的病例,一名50岁男性,有LEMS、自身免疫性视网膜病变、勃起功能障碍和糖尿病前期病史,出现进行性延髓症状——言语不清和吞咽困难——但上下肢无伴随无力。尽管在入院前接受了四剂静脉注射免疫球蛋白(IVIG)但无改善,但他对六次血浆置换显示出显著的临床反应。值得注意的是,在整个住院期间他没有肢体无力且肌力保持正常,这增加了诊断的不确定性,促使对重症肌无力进行评估,通过乙酰胆碱受体抗体检测阴性排除了重症肌无力,并再次确认电压门控钙通道(VGCC)抗体阳性。胸部影像学检查未发现潜在恶性肿瘤。该病例说明了一种非典型的LEMS表现,以严重的延髓功能障碍为主,无肢体受累或呼吸衰竭,这种情况并不常见,可能会模仿其他神经肌肉接头疾病,如重症肌无力。对血浆置换的良好反应强调了早期识别和积极免疫调节治疗在预防临床恶化中的重要性。即使在不寻常的表现中,临床医生也应高度怀疑LEMS,以确保及时和适当的管理。