【摘要】 线粒体脑肌病是一种由线粒体基因或核基因突变引起的多系统代谢性疾病，多以卒中样发作或肌无力为首发症状就诊。本文报告1例以顽固性休克为早期突出表现的青年男性线粒体脑肌病患者，缺乏典型的神经系统症状，在临床上较为少见。患者以腹痛、下肢乏力起病，很快出现严重低血压，需大剂量血管收缩药物维持血压，乳酸水平高达20 mmol/L。经对症支持治疗10 d后低血压缓解，22 d后乳酸正常，1个月后遗留脱机困难和四肢肌无力。肱二头肌基因检测示编码线粒体转运RNA(transfer RNA,tRNA)基因m.3271T>C突变。线粒体脑肌病可能以严重循环障碍为首发表现，对于非低灌注相关的高乳酸血症患者应考虑线粒体疾病的可能，行肌肉等外周组织基因检测或可提高检出率。更多还原

【Abstract】 Mitochondrial encephalomyopathy is a multisystemic metabolic disorder caused by mutations in mitochondrial or nuclear genes. It commonly presents with stroke-like episodes or myopathy as initial symptoms. This paper reports a young male patient with mitochondrial encephalomyopathy whose early and prominent clinical manifestation was refractory shock, without typical neurological symptoms. The patient initially presented with abdominal pain and lower limb weakness, followed by severe hypotension requiring high-dose vasopressors to maintain blood pressure. His lactate level peaked at 20 mmol/L.After 10 days of symptomatic and supportive treatment, his hypotension resolved; lactate levels returned to normal by day 22. One month later, he still had difficulty weaning from mechanical ventilation and exhibited persistent limb weakness. Genetic testing of the biceps brachii revealed an m. 3271T>C mutation in the mitochondrial t RNA gene. Mitochondrial encephalomyopathy may initially present with severe circulatory dysfunction. In patients with lactic acidosis not related to hypoperfusion, mitochondrial disease should be considered, and genetic testing of muscle or other peripheral tissues may improve diagnostic yield.更多还原