【罂粟摘要】1例Bethlem肌病患者择期扁桃体切除术的麻醉处理

1例Bethlem肌病患者择期扁桃体切除术的麻醉处理

贵州医科大学               麻醉与心脏电生理课题组

翻译：张中伟         编辑：田明德    审校：曹莹

背景: Bethlem肌病是一种与VI型胶原蛋白相关的肌病，表现为一种罕见的遗传性肌肉疾病，伴有进行性肌无力和关节痉挛。尽管与其他肌病相比，它的临床症状较轻，但麻醉管理同样是具有挑战性的。上颚的屈曲畸形可能会导致困难气道。肺功能的进行性下降可在成年以后出现。由于限制性肺部疾病的进行性加重，包括右侧心脏病和肺动脉高压，这种呼吸功能下降可能会带来继发性心血管疾病。我们描述了一例男性Bethlem肌病患者接受麻醉的病例，以促进关于这种情况的有限的研究，并提高麻醉医生对此类患者的认识和指导。这是此类文献中的第一例病例报告。

病例报告：此病例详细描述了一位接受扁桃体切除术33岁的男性Bethlem肌病患者。患者在儿童时期被诊断为发育迟缓，既往无麻醉史，也没有麻醉并发症的家族史。麻醉诱导没有出现不良情况，避免使用去极化肌松药并进行完善的呼吸道管理。由于体位限制对病人采取了极其谨慎的措施，以防止并发症发生。手术过程中没有发生意外事件，肌松拮抗使用舒更葡糖钠，因此术后没有发生不良的呼吸道并发症。患者在手术后第一天出院，没有任何呼吸或心血管并发症发生。

讨论：Bethlem肌病，虽然通常临床症状轻微，但可能会对麻醉产生挑战。意识到潜在的并发症，包括困难气道、对心血管和呼吸系统的影响，以及需要专业的监测和定位，对于确保安全的围手术期过程至关重要。

Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report

Abstract

Background Bethlem Myopathy is a collagen VI-related myopathy presenting as a rare hereditary muscular disorder with progressive muscular weakness and joint contractures. Despite its milder clinical course relative to other myopathies, anaesthetic management can be challenging. High arched palates and fixed flexion deformities may contribute to a difficult airway. A progressive decline in pulmonary function can present later into adulthood. This respiratory decline can carry secondary cardiovascular consequences due to the progressive nature of restrictive lung disease, including right sided heart disease and pulmonary hypertension. We describe a case of a male patient with Bethlem Myopathy undergoing anaesthesia, to contribute to the limited body of literature on this condition and enhance awareness and guidance amongst anaesthesiologists on approaching patients with this condition. This is the first case report within the literature of its kind.

Case presentation This case details a 33-year-old male with Bethlem Myopathy undergoing tonsillectomy.Diagnosed in childhood following developmental delays, the patient had no prior anaesthetic exposure and no family history of anaesthetic complications. Anaesthetic induction was achieved without complications, avoiding depolarizing muscle relaxants and careful airway management. Extreme care was taken in patient positioning to prevent complications. The surgery proceeded without incident and muscle paralysis was reversed with Suggammadex, resulting in no adverse post-operative respiratory complications. The patient was discharged on the first post-operative day without any respiratory or cardiovascular compromise.

Conclusion Bethlem Myopathy, while often exhibiting a mild clinical course, can present anaesthetic challenges.Awareness of potential complications including a difficult airway, cardiovascular and respiratory implications as well as the need for specialised monitoring and positioning is crucial to ensure a safe peri-operative course.