Emura Misa, Ishii Hideaki, Baba Hiroshi
Masui. 2014 Aug;63(8):911-4.
Congenital myasthenic syndromes (CMS) are heterogeneous disorders of neurotransmission caused by genetic mutations of neuromuscular junction molecules. We report anesthetic management of a CMS patient who was a 14-year-old boy with endplate acetylcholinesterase deficiency. The patient used noninvasive positive pressure ventilation (NPPV) at night. He underwent a corrective maneuver for severe scoliosis under general anesthesia. General anesthesia was maintained using propofol and remifentanil. Intraoperative mechanical ventilation remained stable. Extubation was performed on the next day and NPPV was started. Several hours later, he complained of a stomachache and intense abdominal bloating. Computed tomography revealed a massive amount of air in the stomach and intestine. He recovered from abdominal bloating the next day without treatment for decompression. Lung-thoracic compliance has been reported to decrease immediately after a corrective maneuver for scoliosis patients. In our case, we suspected a relative increase of abdominal compliance to lung-thoracic compliance as a cause of intense abdominal bloating by air injection from NPPV with his daily setting. In CMS, symptoms, therapy and contraindicated drugs vary according to the location of dysfunction. Therefore, anesthetic management according to each genotype should be designed to avoid drugs that could either trigger or worsen CMS. Intensive respiratory care is advisable after surgery.
先天性肌无力综合征（CMS）是由神经肌肉接头分子基因突变引起的神经传递异质性疾病。我们报告了一名14岁患有终板乙酰胆碱酯酶缺乏症的CMS患者的麻醉管理情况。该患者夜间使用无创正压通气（NPPV）。他在全身麻醉下接受了严重脊柱侧弯的矫正手术。使用丙泊酚和瑞芬太尼维持全身麻醉。术中机械通气保持稳定。术后第二天进行拔管并开始使用NPPV。数小时后，他主诉腹痛和严重腹胀。计算机断层扫描显示胃和肠道内有大量气体。他在未进行减压治疗的情况下于次日从腹胀中恢复。据报道，脊柱侧弯患者在矫正手术后肺胸顺应性会立即下降。在我们的病例中，我们怀疑由于按照他日常的设置使用NPPV注入空气，导致腹部顺应性相对于肺胸顺应性相对增加，从而引起严重腹胀。在CMS中，症状、治疗方法和禁忌药物因功能障碍的部位而异。因此，应根据每种基因型设计麻醉管理方案，以避免使用可能引发或加重CMS的药物。术后建议进行强化呼吸护理。
