Department of Neurology, the First Affiliated of Guangxi Medial University, Guangxi Zhuang Autonomous Region, Nanning, 530021, China.
BMC Neurol. 2020 Dec 10;20(1):444. doi: 10.1186/s12883-020-02022-6.
Ocular myasthenia gravis and Graves' ophthalmopathy are autoimmune diseases that are mediated by membrane receptors and share many identical clinical processes. Poland syndrome is a rare congenital deformity characterized by defects of the ipsilateral hand and the chest wall, and it is usually associated with hypoplasia of ipsilateral pectoral muscles and homolateral breast. However, to the best of our knowledge, the co-occurrence of these diseases has never been reported. In this study, we present a man with Poland syndrome who was diagnosed with Graves' ophthalmopathy and ocular myasthenia gravis in succession.
A 43-year-old man presented with bilateral upper eyelid ptosis, bilateral eye protrusion, bilateral eye movement disorder and malformation of the right hand. Asymmetrical malformation of the chest wall and ipsilateral hand deformity were shown as Poland syndrome. He was diagnosed with ocular myasthenia gravis and Graves' ophthalmopathy on the basis of clinical manifestations and laboratory examinations, including bilateral exophthalmos and progressive asymmetrical ophthalmoparesis without pupillary dysfunction, positive autoantibody tests, repetitive nerve stimulation tests, and computed tomography scans. Treatments with pyridostigmine bromide, thymectomy, and prednisone led to partial clinical improvement. After 13 months of follow-up, the symptoms of drooping eyelids were partially improved, but the eyeball protrusion and right hand deformity remained unchanged.
We report the first case of co-occurrence of ocular myasthenia gravis, Graves' ophthalmopathy, and Poland syndrome. Genetic predisposition and immune dysregulation might be the pathogenesis of the association.
眼肌型重症肌无力和格雷夫斯眼病都是由膜受体介导的自身免疫性疾病,它们具有许多相同的临床过程。波兰综合征是一种罕见的先天性畸形,其特征为同侧手和胸壁缺陷,通常伴有同侧胸大肌和乳房的发育不良。然而,据我们所知,这些疾病同时发生的情况尚未有报道。在本研究中,我们报告了一例波兰综合征患者,他随后被诊断为格雷夫斯眼病和眼肌型重症肌无力。
一名 43 岁男性,双侧上眼睑下垂,双侧眼球突出,双眼运动障碍和右手畸形。胸廓不对称畸形和同侧手畸形提示为波兰综合征。根据临床表现和实验室检查,包括双侧眼球突出和进行性不对称性眼肌麻痹而无瞳孔功能障碍、自身抗体检测阳性、重复神经刺激试验和计算机断层扫描,他被诊断为眼肌型重症肌无力和格雷夫斯眼病。他接受了吡啶斯的明溴化物、胸腺切除术和泼尼松治疗,部分临床症状得到改善。随访 13 个月后,眼睑下垂症状部分改善,但眼球突出和右手畸形仍未改变。
我们报告了首例眼肌型重症肌无力、格雷夫斯眼病和波兰综合征同时发生的病例。遗传易感性和免疫失调可能是其发病机制。