Kam Joyce, Momoh Rabiu
Critical Care Medicine, Medway Maritime Hospital, Gillingham, GBR.
Cureus. 2024 Nov 13;16(11):e73577. doi: 10.7759/cureus.73577. eCollection 2024 Nov.
Mitochondrial disorders are often underrecognized as potential causes of rhabdomyolysis, a condition characterized by acute muscle breakdown that can lead to local and potentially systemic complications, with the possibility of being life-threatening. Accounts of rhabdomyolysis as a peri-operative complication associated with mitochondrial disorders are rare; therefore, this study is noteworthy. We describe a case of rhabdomyolysis that occurred during the peri-operative period in a middle-aged male with Charcot-Marie-Tooth (CMT) disease-like peripheral neuropathy. Importantly, genetic studies confirmed that the patient's mother, sister, and maternal uncle carried the m.9176T>C (ATP6) mitochondrial pathogenic variant, which follows a maternal inheritance pattern. This suggests that the patient may have inherited the disorder as well.
线粒体疾病常未被充分认识为横纹肌溶解的潜在病因,横纹肌溶解是一种以急性肌肉分解为特征的病症,可导致局部及潜在的全身并发症,甚至可能危及生命。横纹肌溶解作为与线粒体疾病相关的围手术期并发症的报道很少;因此,本研究值得关注。我们描述了一例围手术期发生横纹肌溶解的病例,患者为一名患有类似夏科-马里-图斯(CMT)病周围神经病变的中年男性。重要的是,基因研究证实患者的母亲、姐姐和舅舅携带m.9176T>C(ATP6)线粒体致病性变异,该变异遵循母系遗传模式。这表明患者可能也遗传了该疾病。