Park Seon Yeong, Hong Sung Min, Lee Ho Young, Kim Mi-Yeong, Lee Hyun-Kyung, Han Ji-Yeon, Cho Hwa Jin, Oh Seong-Il, Lee Hongyeul
Division of Pulmonary, Allergy and Critical Care Medicine, Department of Internal Medicine, Inje University Busan Paik Hospital, Inje University College of Medicine, Busan 47392, South Korea.
Depart of Radiology, Inje University Busan Paik Hospital, Busan 47392, South Korea.
World J Clin Cases. 2025 May 26;13(15):102691. doi: 10.12998/wjcc.v13.i15.102691.
Mitochondrial myopathies are characterized by primary dysfunction of the mitochondrial respiratory chain; they typically present as chronic muscle weakness. Clinically visible acute respiratory dysfunctions associated with mitochondrial myopathies occur rarely.
In this report, we present the case of a patient who developed postoperative hypoventilation after undergoing an uneventful administration of general anesthesia. A 34-year-old woman with no family history of myopathy underwent laparoscopic removal of a right-sided ureteric stone. Two days postoperatively, her oxygen saturation decreased rapidly, and blood gas analysis revealed hypercapnia. We promptly intubated and initiated the patient and initiated her on mechanical ventilation as she remained awake. Clinical examination findings were unremarkable; the results of laboratory investigations, including those for thyroid, hepatic, renal, and neuromuscular functions, were within normal limits. Muscle biopsy revealed muscle fibers of varying sizes as well as several degenerating and regenerating myofibers. Modified Gomori trichrome staining of the cross-sections revealed ragged red fibers. Based on these findings, we diagnosed the patient with mitochondrial myopathy. The patient's condition gradually improved, and she was discharged on a home ventilator 73 days postoperatively.
Our case highlights that mitochondrial myopathy should be considered in the differential diagnosis of patients with postoperative respiratory failure.
线粒体肌病的特征是线粒体呼吸链原发性功能障碍；通常表现为慢性肌肉无力。与线粒体肌病相关的临床上可见的急性呼吸功能障碍很少发生。
在本报告中，我们介绍了一例患者，该患者在接受平稳的全身麻醉后出现术后通气不足。一名无肌病家族史的34岁女性接受了腹腔镜下右侧输尿管结石切除术。术后两天，她的血氧饱和度迅速下降，血气分析显示高碳酸血症。由于她仍保持清醒，我们迅速为她插管并开始机械通气。临床检查结果无异常；包括甲状腺、肝脏、肾脏和神经肌肉功能检查在内的实验室检查结果均在正常范围内。肌肉活检显示肌纤维大小不一，还有一些正在退变和再生的肌纤维。横断面的改良戈莫里三色染色显示有破碎红纤维。基于这些发现，我们诊断该患者为线粒体肌病。患者的病情逐渐好转，术后73天带家用呼吸机出院。
我们的病例强调，在术后呼吸衰竭患者的鉴别诊断中应考虑线粒体肌病。
