Published online Aug 6, 2023. doi: 10.12998/wjcc.v11.i22.5398
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
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.
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.
More attention should be paid to mitochondrial myopathy to avoid missed diagnosis and misdiagnosis.
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.