Yin Yatao, Cao Jing, Fan Yuanteng, Xu Yan
Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Neurology, Zhongnan Hospital, Wuhan University, Wuhan, China.
Heliyon. 2023 Sep 12;9(9):e19980. doi: 10.1016/j.heliyon.2023.e19980. eCollection 2023 Sep.
Congenital myasthenia syndromes (CMS) are a heterogeneous group of hereditary disorders of the neuromuscular junction. The symptoms include fatigue, muscle weakness, ptosis, mastication or swallowing problem, respiratory distress. We present a 42-year-old male patient who was admitted with complaints of paroxysmal limb weakness for 25 years and got repeated apnea crisis due to using AchE inhibitors. We considered this patient to be -related CMS because of two types characteristics. One is the symptom will deteriorate or non-responsive after giving AchE inhibitors and the other is repeated compound action potentials may appear after one current stimulation. At last we confirmed the diagnosis by genetic testing. It is a rare CMS case caused by homozygous mutation in the gene which occurred at late adolescence. Our case demonstrates that for those serum-negative MG patients, CMS gene mutation screening should be considered, especially if the patient has an symptom onset of childhood and adolescence.
先天性肌无力综合征（CMS）是一组异质性的神经肌肉接头遗传性疾病。症状包括疲劳、肌肉无力、上睑下垂、咀嚼或吞咽问题、呼吸窘迫。我们报告一名42岁男性患者，因阵发性肢体无力25年入院，使用乙酰胆碱酯酶（AchE）抑制剂后反复出现呼吸暂停危象。由于该患者具有两种类型的特征，我们考虑其与CMS相关。一是给予AchE抑制剂后症状会恶化或无反应，另一个是单次电流刺激后可能出现反复复合动作电位。最后通过基因检测确诊。这是一例由该基因纯合突变导致的罕见CMS病例，突变发生在青春期后期。我们的病例表明，对于那些血清学阴性的重症肌无力（MG）患者，应考虑进行CMS基因突变筛查，尤其是当患者在儿童期和青春期出现症状时。
