Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia-A Case Report.

Abstract

Mitochondrial disease predominantly affects tissues reliant on aerobic metabolism, with an incidence of 1 in 4000 individuals and a broad spectrum of clinical presentations. Malignant hyperthermia is a pharmacogenetic disease in which a hypermetabolic reaction is triggered in malignant hyperthermia-susceptible patients by specific anesthetic agents. We present a clinical case of a fatal atypical reaction to anesthesia, where mitochondrial dysfunction was identified in the mother, and a variant in the RYR1 gene was found in the asymptomatic father and a paternal first cousin with exercise-induced rhabdomyolysis. Our report highlights that patients with complex phenotypes may present with concomitant diseases, necessitating comprehensive and often competing management priorities.