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非典型血清阳性横纹肌抗体重症肌无力合并转移性B1型胸腺瘤:1例罕见病例

Atypical Seropositive Striated Muscle Antibody Myasthenia Gravis Presentation With Metastatic B1 Thymoma: A Rare Case.

作者信息

Randhawa Johnny S, Kim Lauren S, Aguilar Cesar, Phan Alexander T, Abou-El-Hassan Hadi, Sovory Lisa Herring

机构信息

Internal Medicine, Arrowhead Regional Medical Center, Colton, USA.

Internal Medicine, California University of Science and Medicine, Colton, USA.

出版信息

Cureus. 2023 Feb 20;15(2):e35221. doi: 10.7759/cureus.35221. eCollection 2023 Feb.

Abstract

The association between myasthenia gravis (MG) and thymomas is well-documented. Thymomas are rare epithelial cell tumors that arise from the thymus gland and occur in the mediastinum. Myasthenia gravis is a neuromuscular disorder that causes skeletal muscle weakness due to the presence of anti-acetylcholinesterase antibodies. Roughly 60% of thymomas are associated with MG, while only 10% of MG patients have thymomas. We present an atypical presentation of myasthenia gravis with an associated unusual metastatic thymoma. This case is of a young, previously healthy 26-year-old male with no previous medical history who presented with non-specific symptoms of fatigue, diarrhea, abdominal pain, back pain, blurry vision, and unintended weight loss. He underwent treatment with intravenous immunoglobulins (IVIG), had two surgical resections of the thymoma, and ultimately received radiotherapy. Based on our experience with this case, diagnosing myasthenia gravis by testing for specific muscle antibodies for patients with ptosis in the setting of non-specific complaints, including fatigue, vomiting, diarrhea, and abdominal or back pain, should be considered. Routine imaging should follow with a chest computed tomography to screen for thymomas if the specific anti-titin and anti-ryanodine receptor (anti-RyR) muscle antibodies are positive and myasthenia gravis is suspected. If a thymoma is confirmed, it is best to confirm; and mass characterizes with chest magnetic resonance imaging. A treatment approach of IVIG followed by surgical resection and possible debulking if the lesion is deemed metastatic could also be considered thereafter, especially in young patients with few comorbidities. Treatment with Pyridostigmine 30 mg twice daily for 25 days post-surgically and radiation for treatment of any remaining unresectable tumor should also be considered.

摘要

重症肌无力(MG)与胸腺瘤之间的关联已有充分记录。胸腺瘤是罕见的上皮细胞肿瘤,起源于胸腺,发生于纵隔。重症肌无力是一种神经肌肉疾病,由于抗乙酰胆碱酯酶抗体的存在导致骨骼肌无力。大约60%的胸腺瘤与重症肌无力相关,而只有10%的重症肌无力患者有胸腺瘤。我们报告一例重症肌无力的非典型表现,伴有罕见的转移性胸腺瘤。该病例为一名26岁的年轻男性,此前身体健康,无既往病史,出现疲劳、腹泻、腹痛、背痛、视力模糊和意外体重减轻等非特异性症状。他接受了静脉注射免疫球蛋白(IVIG)治疗,对胸腺瘤进行了两次手术切除,最终接受了放疗。根据我们对该病例的经验,对于出现上睑下垂且伴有疲劳、呕吐、腹泻以及腹部或背部疼痛等非特异性症状的患者,应考虑通过检测特定肌肉抗体来诊断重症肌无力。如果特定的抗肌联蛋白和抗兰尼碱受体(抗RyR)肌肉抗体呈阳性且怀疑患有重症肌无力,应进行胸部计算机断层扫描以筛查胸腺瘤。如果确诊为胸腺瘤,最好通过胸部磁共振成像来确认肿块特征。此后也可以考虑采用IVIG治疗,随后进行手术切除,如果病变被认为是转移性的,可能还需要减瘤,特别是对于合并症较少的年轻患者。术后还应考虑使用溴吡斯的明,每天两次,每次30毫克,持续25天,并进行放疗以治疗任何剩余的无法切除的肿瘤。

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