Weaning difficulty after severe pneumonia in adult-onset mitochondrial myopathy with A3243G mutation in the mitochondrial tRNA gene: A case report

Xiong Peng; Li-Xiu Ma; Ce Xiao; Zhi-Zhe Zhang; Min Zhu; Dao-Jun Hong; Yi-An Zhan

doi:10.1016/j.heliyon.2023.e23300

Weaning difficulty after severe pneumonia in adult-onset mitochondrial myopathy with A3243G mutation in the mitochondrial tRNA gene: A case report

Heliyon. 2023 Dec 3;9(12):e23300. doi: 10.1016/j.heliyon.2023.e23300. eCollection 2023 Dec.

Authors

Xiong Peng¹, Li-Xiu Ma¹, Ce Xiao¹, Zhi-Zhe Zhang¹, Min Zhu², Dao-Jun Hong², Yi-An Zhan¹

Affiliations

¹ Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
² Department of Neurology, the First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.

Abstract

Background: Mitochondrial myopathy is a group of diseases caused by abnormal mitochondrial structure or function. The mitochondrial myopathy impacts muscles of the whole body and exhibits variable symptoms. Respiratory muscle deficits deteriorate pulmonary function in patients with severe pneumonia.

Case presentation: We report the case of a male patient with severe pneumonia-induced respiratory failure. He was abnormally dependent invasive ventilator-assisted ventilation after his condition had improved. Then we found abnormal ventilator waveform and a decline in muscle strength of him. Mitochondrial myopathy was ultimately confirmed by muscle pathological biopsy and body fluid genetic testing. Vitamin B complex, coenzyme Q10, Neprinol AFD, l-arginine, and MITO-TONIC were used to improve mitochondrial function and muscle metabolism. After treatment, discomfort associated with chest tightness, fatigue, cough, and sputum disappeared, and the patient was discharged.

Conclusion: This case presented an uncommon cause of difficult weaning and extubation-acute onset of mitochondrial myopathy. Muscle biopsy and genetic testing of body fluid are essential for diagnosing mitochondrial myopathy. The A3243G mutation in the MT-TL1 gene of mitochondrial DNA contributes to pathogenesis of this case.

Keywords: A3243G mutation; Acute respiratory failure; Difficulty in weaning; Mitochondrial myopathy; Severe pneumonia.

Publication types

Case Reports