Elseidy Sheref A, Alkader Ahmed Abd Allah Abd, Naserallah Haitham Hassan, Awad Ahmed Khaled
Department of Cardiovascular Diseases, Ain Shams University, Cairo, Egypt.
Department of Rheumatology, Ain Shams University, Cairo, Egypt.
J Surg Case Rep. 2020 Sep 26;2020(9):rjaa321. doi: 10.1093/jscr/rjaa321. eCollection 2020 Sep.
Myasthenia gravis (MG) is an autoimmune disease that occurs as a consequence of anti-acetylcholine (Ach) antibodies specifically targeting postsynaptic Ach receptors (AchR). This leads to the evolution of the classic symptoms of the disease, which range from mild symptoms of diplopia, muscle fatigue with repetitive movement up to severe affection of the respiratory muscle. The disease can occur as an isolated finding or co-exist with a concomitant thymic tumor or hyperplasia. Careful diagnosis is crucial for the development of the management plan. Nearly 10-15% of MG cases coexist with a thymic pathology and in these cases, surgical resection leads to the resolution of symptoms. Although thymomatous MG occurrence is non-heritable, its polygenic nature accounts for its rare familial variant. In this case, we report a family of three brothers with familial thymomatous MG who underwent thymectomy and improved after thymic surgical resection. Myasthenia gravis can occur as an isolated finding or as an association of thymic pathology. Careful discrimination between the two should be made for the elaboration of a management plan. Familial variant thymomatous myasthenia gravis is exceedingly rare. A familial survey is crucial for its management.
重症肌无力（MG）是一种自身免疫性疾病，其发生是由于抗乙酰胆碱（Ach）抗体特异性靶向突触后Ach受体（AchR）所致。这导致了该疾病典型症状的演变，症状范围从轻微的复视、重复运动时的肌肉疲劳到呼吸肌的严重受累。该疾病可单独出现，也可与胸腺肿瘤或增生同时存在。仔细诊断对于制定治疗方案至关重要。近10%-15%的MG病例与胸腺病变共存，在这些病例中，手术切除可使症状缓解。虽然胸腺瘤型MG的发生不具有遗传性，但其多基因性质解释了其罕见的家族性变异。在本病例中，我们报告了一个患有家族性胸腺瘤型MG的三兄弟家庭，他们接受了胸腺切除术，术后症状改善。重症肌无力可单独出现，也可与胸腺病变相关。为制定治疗方案，应仔细区分这两种情况。家族性变异型胸腺瘤型重症肌无力极为罕见。家族调查对其治疗至关重要。
