Kim Jeong Yeon, Jeong Koun, Han Ki Seob, Park Ji Eun, Kim Mun Gyu, Jun Mi Roung
Department of Anesthesiology and Pain Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
Department of Anesthesiology and Pain Medicine, Soonchunhyang University Seoul Hospital, Seoul, Korea.
Anesth Pain Med (Seoul). 2021 Apr;16(2):158-162. doi: 10.17085/apm.20091. Epub 2021 Apr 12.
Joubert syndrome and mitochondrial disease are rare congenital diseases in which a wide range of symptoms affects multiple organs. Patients with these diseases present characteristic symptoms related to the musculoskeletal, respiratory, and neurological systems, which make it difficult for anesthesiologists to manage the patient's airway and choose appropriate anesthetic drugs.
A 13-year-old male patient with Joubert syndrome and mitochondrial disease underwent elective surgery to insert a continuous ambulatory peritoneal dialysis catheter. Anesthesia was induced and maintained with propofol, remifentanil, and rocuronium. An I-gel was inserted to secure the airway; however, the fitting did not work properly, so the patient was intubated. The operation was completed without any major problems, and the intubated patient was transferred to the intensive care unit.
Anesthesiologists should determine the method of anesthesia and prepare for unintended complications based on a full understanding of these congenital diseases.
乔伯特综合征和线粒体疾病是罕见的先天性疾病，其广泛的症状会影响多个器官。患有这些疾病的患者会出现与肌肉骨骼、呼吸和神经系统相关的特征性症状，这使得麻醉医生难以管理患者的气道并选择合适的麻醉药物。
一名患有乔伯特综合征和线粒体疾病的13岁男性患者接受了择期手术，以插入持续非卧床腹膜透析导管。使用丙泊酚、瑞芬太尼和罗库溴铵诱导并维持麻醉。插入I-gel喉罩以确保气道安全；然而，其适配效果不佳，因此对患者进行了气管插管。手术顺利完成，插管患者被转入重症监护病房。
麻醉医生应在充分了解这些先天性疾病的基础上确定麻醉方法并为意外并发症做好准备。
