背景:重症肌无力(MG)是一种影响神经肌肉接头的自身免疫性疾病。MG患者可能从头出现原发性耳鼻咽喉科主诉,包括吞咽功能障碍。这项研究描述了一系列独特的表现和罕见的诊断血清学,以前没有完全描述过。
方法:对所有以吞咽困难为首发症状并随后被诊断为MG的患者进行回顾性分析。收集的数据包括人口统计,临床表现,燕子研究,血清学,成像,治疗,和回应。
结果:5例患者符合纳入标准。四个认可吞咽困难为主要主诉,一个认可吞咽困难和发音困难。所有患者均接受了办公室内吞咽评估,显示瓣膜或梨状窦残留。三名患者完成了改良的钡吞咽研究,显示咽部无力和会厌功能障碍。和食管上括约肌功能障碍两种。收治了一名有其他呼吸困难症状的患者,并发现患有肌无力危象。经过血清学评估,3例患者仅乙酰胆碱受体(AChR)抗体阳性,一种仅用于肌肉特异性激酶(MuSK)抗体,一种仅用于低密度脂蛋白受体相关蛋白4(LRP4)抗体。所有患者都接受了神经内科评估,并接受了类固醇治疗,吡啶斯的明,血浆置换,或者利妥昔单抗.在3例随访超过1年的患者中,症状明显改善或缓解。
结论:MG是不明原因咽部吞咽困难患者的重要鉴别诊断。虽然检查可以包括AChR抗体筛选,在持续症状的血清阴性患者中,对MuSK和LRP4进行额外检测可能导致诊断和有效治疗.
方法:4级喉镜,2024.
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease that affects the neuromuscular junction. MG patients may present de novo with primary otolaryngology complaints, including swallowing dysfunction. This study describes a range of unique presentations and rare diagnostic serologies, which have not previously been fully described.
METHODS: A retrospective review was performed of all patients presenting with primary symptom of
dysphagia and subsequently diagnosed with MG. Data collected included demographics, clinical presentation, swallow studies, serology, imaging, treatment, and response.
RESULTS: Five patients met the inclusion criteria. Four endorsed
dysphagia as primary complaint and one endorsed
dysphagia and dysphonia. All patients underwent in-office swallow evaluations that showed vallecular or pyriform sinus residue. Three patients completed modified barium swallow studies that showed pharyngeal weakness and epiglottic dysfunction in all, and upper esophageal sphincter dysfunction in two. One patient with additional symptom of dyspnea was admitted and found to be in myasthenic crisis. Upon serologic evaluation, three patients were positive for acetylcholine receptor (AChR) antibodies only, one for muscle-specific-kinase (MuSK) antibodies only, and one for low density lipoprotein receptor-related protein 4 (LRP4) antibodies only. All patients received neurology evaluation and were treated with steroids, pyridostigmine, plasma exchange, or rituximab. In three patients with over 1 year follow-up, symptoms were significantly improved or resolved.
CONCLUSIONS: MG is an important differential diagnosis in patients with unexplained pharyngeal
dysphagia. While workup can include AChR antibody screening, in seronegative patients with persistent symptoms, additional testing for MuSK and LRP4 may lead to diagnosis and effective treatment.
METHODS: Level 4 Laryngoscope, 2024.