Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 6, 2023; 11(22): 5398-5406
Published online Aug 6, 2023. doi: 10.12998/wjcc.v11.i22.5398
Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report
Ling Chen, Tian-Kui Shuai, Yu-Wei Gao, Min Li, Peng-Zhong Fang, Waydhas Christian, Li-Ping Liu
Ling Chen, Tian-Kui Shuai, Yu-Wei Gao, Min Li, Peng-Zhong Fang, Li-Ping Liu, Department of Emergency Critical Care Medicine, The First Hospital of Lanzhou University, Lanzhou 730000, Gansu Province, China
Waydhas Christian, Intensive Care Unit, Department of Trauma, Hand and Reconstructive Surgery, University Hospital Essen, Essen 44789, Germany
Author contributions: Chen L was responsible for data collection, patient management, and writing up of the first draft of the paper and revising it; Liu LP was responsible for revising the article critically for important intellectual content, final approval of the version to be published, and agreement to be accountable for all aspects of the work thereby ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; Shuai TK and Gao YW were responsible for analysis and interpretation of the data; Li M was responsible for follow-up of this patient after treatment; Fang PZ was responsible for helping to manage the patient and consulting the literature; Christian W was responsible for revising the first draft and giving suggestions; all authors have read and approved the final manuscript.
Supported by The Science and Technology Department of Gansu Province, No. 20JR5RA355 and No. 22JR10KA009; Talent Innovation and Entrepreneurship Project of Science and Technology Bureau of Chengguan District, Lanzhou, No. 2020RCCX0030; Lanzhou Science and Technology Development Guiding Plan Project, No. 2019-ZD-37; Fund of The First Hospital of Lanzhou University, No. Ldyyyn2020-79.
Informed consent statement: Written informed consent for the publication of this case report was obtained from the patient.
Conflict-of-interest statement: The authors declare that they have no competing interests to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Ping Liu, PhD, Clinical Assistant Professor (Honorary), Doctor, Professor, Department of Emergency Critical Care Medicine, The First Hospital of Lanzhou University, No. 1 Donggang West Road, Chengguan District, Lanzhou 730000, Gansu Province, China. liulipingldyy@126.com
Received: May 27, 2023
Peer-review started: May 27, 2023
First decision: June 13, 2023
Revised: June 24, 2023
Accepted: July 11, 2023
Article in press: July 11, 2023
Published online: August 6, 2023
Abstract
BACKGROUND

Mitochondrial myopathy is a rare genetic disease with maternal inheritance that may involve multiple organ systems. Due to the lack of typical characteristics, its clinical diagnosis is difficult, and it is often misdiagnosed or even missed.

CASE SUMMARY

The patient was a young college student. When he presented at the hospital, he had severe lactic acidosis, respiratory failure, and shock with multiple organ dysfunction syndrome (MODS). He was treated by mechanical ventilation, veno-arterial extracorporeal membrane oxygenation, and other organ support. However, his condition continued to worsen. After a thorough and detailed medical and family history was taken, a mitochondrial crisis was suspected. A muscle biopsy was taken. Further genetic testing confirmed a mitochondrial gene mutation (TRNL1 3243A>G). The final diagnosis of mitochondrial myopathy was made. Although there is no known specific treatment, intravenous methylprednisone and intravenous immunoglobulin were started. The patient’s shock eventually improved. The further course was complicated by severe infection in multiple sites, severe muscle weakness, and recurrent MODS. After 2 mo of multidisciplinary management and intensive rehabilitation, the patient could walk with assistance 4 mo after admission and walk independently 6 mo after admission.

CONCLUSION

More attention should be paid to mitochondrial myopathy to avoid missed diagnosis and misdiagnosis.

Keywords: Mitochondrial myopathy, Mitochondrial crisis, Hyperlactatemia, Extracorporeal membrane oxygenation, Multiple organ dysfunction syndrome, Case report

Core Tip: Mitochondrial crisis is rare and difficult to diagnose and treat. This article reports a patient with mitochondrial crisis, hyperlactic acidemia, and respiratory failure at admission, complicated by multiple organ failure and limb muscle weakness, who survived the mitochondrial crisis after early high-dose hormone and high-dose intravenous human immunoglobulin therapy, and the patient finally recovered and was discharged after more than 2 mo of treatment.