Objective To observe the clinical,imaging,pathological and gene mutation features of mitochondrial gene T13094C mutation caused mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS)/Leigh overlap syndrome with cervical spinal lesion.Methods The clinical data of one MELAS/Leigh overlap syndrome patient with cervical spinal lesion was analyzed retrospectively.Results The 14-years-old female patient first presented with numbness and convulsion of both legs.The symptoms were recurrent and progress,and then vomiting,ophthalmoplegia,ataxia,lactate acidosis,irritability,respiratory failure and coma were gradually appeared.At 20 months after onset,she died of status epileptic.The imaging performances were changing of new lesions at bilateral cerebral hemisphere,C2-6 section of the cervical spinal,thalamus,bilateral cerebellum,midbrain,pons,medulla oblongata.The main muscle pathological findings were red rag fibers on Gomri staining,enhanced stained fibers on succinodehydrogenase staining,and dramatic mitochondrion abnormality on electron microscopy.Mitochondrial gene sequencing in blood and muscle showed T13094C heterozygous mutation.Conclusions Mitochondrial gene T13094C mutation caused MELAS/Leigh superposition syndrome showed cervical spinal lesion is rare in mitochondrial disease.The disease course continuous progress to die is different from A3243G gene mutation patients.%目的 探讨线粒体基因T13094C突变致伴有颈髓病变的线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)/Leigh叠加综合征的临床、影像、病理及基因突变特点.方法 回顾性分析1例伴颈髓病变的MELAS/Leigh叠加综合征患者的临床资料.结果 患者为14岁女性,以双下肢麻木、抽搐起病,症状反复发作并进展,逐渐出现呕吐、眼球运动障碍、共济失调、乳酸酸中毒、易激惹、呼吸衰竭、昏迷等,于发病后20个月时死于癫痫持续状态.影像学表现为双侧大脑半球、C2-6段颈髓、丘脑、双侧小脑半球、中脑、脑桥、延髓等处不断变化的新病灶.肌肉病理学检查示Gomori染色可见破碎红纤维,琥珀酸脱氢酶染色可见周边深染的肌纤维,电镜示明显的线粒体数量和形态异常.血和肌肉线粒体基因测序示T13094C杂合突变.结论 线粒体基因T13094G突变致MELAS/Leigh综合征出现颈髓病变为线粒体病所罕见;持续进展乃至死亡的病程不同于A3243G突变患者.
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