Haridy Nourelhoda A, Khedr Eman M, Hasan Asmaa M, Maghraby Ahmed A, Abdelmohsen Essam, Aly AbdelHamid M
Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt.
Department of Internal Medicine, Gastroenterology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt.
Egypt J Neurol Psychiatr Neurosurg. 2023;59(1):34. doi: 10.1186/s41983-023-00636-4. Epub 2023 Mar 15.
Myasthenia gravis is an autoimmune neuromuscular junction disorder characterized by fatigable muscle weakness and autoantibodies. Frequent associations exist between myasthenia gravis and thymic abnormalities, including hyperplasia and thymoma. Several autoimmune illnesses have been identified to be associated with thymoma; however, a few case reports have linked thymoma and achalasia, and the underlying mechanism is unknown.
A 43-year-old man with thymoma-associated myasthenia gravis presented with dysphagia that was refractory to conventional treatment of myasthenia gravis. This dysphagia was challenging to diagnose even after multiple gastroenterology consults and upper endoscopy. The diagnosis of achalasia type II was established after a comprehensive evaluation, including upper endoscopy, barium swallow, and high-resolution esophageal manometry. The patient underwent elective pneumatic balloon dilatation, which successfully alleviated his dysphagia.
This case confirmed the association between myasthenia gravis secondary to thymoma and achalasia and showed how the diagnosis of achalasia was challenging. Awareness of this association is crucial for early diagnosis and treatment, improving affected patients' quality of life.
重症肌无力是一种自身免疫性神经肌肉接头疾病，其特征为易疲劳性肌无力和自身抗体。重症肌无力与胸腺异常（包括增生和胸腺瘤）之间存在频繁关联。已确定几种自身免疫性疾病与胸腺瘤有关；然而，有少数病例报告将胸腺瘤与贲门失弛缓症联系起来，其潜在机制尚不清楚。
一名患有胸腺瘤相关重症肌无力的43岁男性出现吞咽困难，对重症肌无力的常规治疗无效。即使经过多次胃肠病学会诊和上消化道内镜检查，这种吞咽困难也难以诊断。在进行了包括上消化道内镜检查、吞钡造影和高分辨率食管测压在内的全面评估后，确诊为II型贲门失弛缓症。该患者接受了择期气囊扩张术，成功缓解了吞咽困难。
本病例证实了胸腺瘤继发的重症肌无力与贲门失弛缓症之间的关联，并展示了贲门失弛缓症的诊断具有挑战性。认识到这种关联对于早期诊断和治疗至关重要，可提高受影响患者的生活质量。
