Fan Rui, Ji Ruirui, Zou Wenxin, Wang Guoliang, Wang Hu, Penney Daniel James, Luo Jin Jun, Fan Yuxin
John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Xijing Hospital, The Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
Exp Ther Med. 2016 Oct;12(4):2435-2438. doi: 10.3892/etm.2016.3673. Epub 2016 Sep 6.
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies. Laboratory results revealed hypokalemia and an elevated anti-AChR antibody expression levels. Electrocardiography demonstrated prolonged QT-interval, ST-elevation, and subsequent third-degree atrioventricular block. Neurological examination revealed bilateral ptosis, horizontal diplopia, dysarthria and generalized weakness. No mutations in the potassium channel inwardly rectifying subfamily J member 2 gene were detected in the present case. The patient was treated with oral potassium supplementation and an acetylcholinesterase inhibitor (pyridostigmine), after which the symptoms were improved. To the best of our knowledge, the present case report was the first to describe concomitant presentation of both ATS and MG, which represents a diagnostic and therapeutic challenge.
安德森-陶威尔综合征（ATS）是一种常染色体显性遗传的多系统通道病，其特征为周期性麻痹、室性心律失常以及独特的面部或骨骼畸形特征。该病症表现出明显的家族内变异性和不完全外显率。重症肌无力（MG）是一种自身免疫性疾病，表现为进行性疲劳，其中神经肌肉接头处的烟碱型乙酰胆碱受体（AChR）是主要自身抗原。本研究报告了一例罕见病例，一名31岁女性，有病态肥胖和周期性肌无力病史，出现血流动力学不稳定、心源性休克和面部畸形。实验室检查结果显示低钾血症以及抗AChR抗体表达水平升高。心电图显示QT间期延长、ST段抬高，随后出现三度房室传导阻滞。神经学检查发现双侧上睑下垂、水平复视、构音障碍和全身无力。本病例未检测到内向整流钾通道亚家族J成员2基因的突变。患者接受了口服补钾和乙酰胆碱酯酶抑制剂（吡啶斯的明）治疗，之后症状有所改善。据我们所知，本病例报告首次描述了ATS和MG的同时出现，这带来了诊断和治疗上的挑战。
