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Case Report ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Neurol. | doi: 10.3389/fneur.2019.00780

Acute respiratory failure is the initial manifestation in the adult-onset A3243G tRNALeu mtDNA mutation: a case report and the literature review

 Xiaoli Pan1,  Lijun Wang1, 2, Guoqiang Fei1,  Jihong Dong1, Chunjiu Zhong1, Jiahong Lu3* and  Lirong Jin1*
  • 1Department of Neurology, Zhongshan Hospital, Fudan University, China
  • 2Department of Neurology, Shanghai Tenth People's Hospital, China
  • 3Department of Neurology, Huashan Hospital, Fudan University, China

Isolated mitochondrial myopathy refers to the condition that mitochondrial disorders primarily affect skeletal muscle system. Here we reported a case 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 modified Gomori trichrome Stain in skeletal muscle biopsy and genetic detection of an A3243G point mutation in the tRNALeu (UUR) gene of mitochondrial DNA (mtDNA) in peripheral blood specimen. He revealed a benign clinical outcome by ventilator assistance and 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 A3243G mutation in the tRNALeu gene of the mtDNA. Usage of sedative drugs tends to induce acute respiratory failure in such cases.

Keywords: Mitochondrial myopathy, A3243G mutation, respiratory failure, mtDNA, Sedative Drug

Received: 21 Mar 2019; Accepted: 03 Jul 2019.

Edited by:

Rosanna Cardani, Policlinico San Donato (IRCCS), Italy

Reviewed by:

Lorenzo Maggi, Neurological Institute Foundation Carlo Besta, Milan
Antonio Di Muzio, Università degli Studi G. d'Annunzio Chieti e Pescara, Italy  

Copyright: © 2019 Pan, Wang, Fei, Dong, Zhong, Lu and Jin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Dr. Jiahong Lu, Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China,
Dr. Lirong Jin, Department of Neurology, Zhongshan Hospital, Fudan University, Fudan, China,