Pan Xiaoli, Wang Lijun, Fei Guoqiang, Dong Jihong, Zhong Chunjiu, Lu Jiahong, Jin Lirong
Department of Neurology, Zhongshan Hospital & Shanghai Medical College, Fudan University, Shanghai, China.
Department of Neurology & Co-innovation Center of Neurodegeneration, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Front Neurol. 2019 Jul 18;10:780. doi: 10.3389/fneur.2019.00780. eCollection 2019.
Isolated mitochondrial myopathy refers to the condition of mitochondrial disorders that primarily affect the skeletal muscle system. Here we report on a case of a patient who presented with acute respiratory failure as the initial and predominant clinical manifestation after using anesthetic drugs. The diagnosis of mitochondrial myopathy was made by histochemical findings of ragged red fibers with a modified Gomori trichrome Stain in the skeletal muscle biopsy and the genetic detection of an A3243G point mutation in the tRNA (UUR) gene of mitochondrial DNA (mtDNA) in a peripheral blood specimen. The patient revealed a benign clinical outcome with ventilator assistance and a cocktail treatment. Further, we performed a literature review on patients with respiratory failure as the early and predominant manifestation in adult-onset isolated mitochondrial myopathy. Eleven cases in nine studies (including our case) have been reported, and five of whom underwent DNA analysis all harbored the A3243G mutation in the tRNA gene of the mtDNA. Use of sedative drugs tends to induce acute respiratory failure in such cases.
孤立性线粒体肌病是指主要影响骨骼肌系统的线粒体疾病。在此，我们报告一例患者，其在使用麻醉药物后，以急性呼吸衰竭作为初始和主要临床表现。通过骨骼肌活检中改良Gomori三色染色显示的破碎红纤维的组织化学结果，以及外周血标本中线粒体DNA（mtDNA）的tRNA（UUR）基因中A3243G点突变的基因检测，确诊为线粒体肌病。该患者在呼吸机辅助和联合治疗下获得了良好的临床结局。此外，我们对以呼吸衰竭为成人起病的孤立性线粒体肌病早期和主要表现的患者进行了文献综述。已报道了9项研究中的11例病例（包括我们的病例），其中5例接受DNA分析的患者均在mtDNA的tRNA基因中携带A3243G突变。在此类病例中，使用镇静药物往往会诱发急性呼吸衰竭。
