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目的通过1例患者的就诊治疗经过探讨线粒体脑病伴乳酸中毒及卒中样发作(MELAS)疾病的发病过程、临床表现、检查及化验特点等,并通过基因检查讨论遗传学特点。方法男性患者,54岁,主因“头晕、记忆力下降1周,进行性视物模糊3d”就诊我院,入院后出现癫痫发作、智能减退等症状。结果头MRI示左颞顶枕可见异常信号,DWI序列可见高信号改变,左颞病灶可见片状强化信号影。神经心理量表评估提示各领域认知下降。脑脊液化验示蛋白1.09g/L,乳酸3.5mmol/L;免疫示IgG、IgA、白蛋白升高。肌电图示双侧正中神经感觉传导波幅降低。乳酸测定示平静时血乳酸4.4mmol/L(0.4~2.0mmol/L),有氧运动15min后查血乳酸9.6mmol/L高于正常。行肱二头肌肌肉活检病理回报可见破碎红纤维。外院送检MELAS相关基因检查m.3243A、m.3250T、m.3251A、m.3252A、m.3271T位点均未见异常。结论 MELAS型线粒体脑肌病临床少见且极易误诊,诊断需行肌肉活检等多方面化验检查资料,基因检查发现突变位点可作为重要证据。
Objective To investigate the pathogenesis, clinical manifestation, examination and laboratory features of mitochondrial encephalopathy accompanied by lactic acidosis and stroke-like episode (MELAS) through the treatment of one patient and to discuss the genetic characteristics through genetic examination. Methods Male patients, 54 years old, mainly due to “dizziness, memory loss for 1 week, progressive visual obstruction 3d ” visit our hospital, admitted to hospital after seizures, decreased intelligence and other symptoms. Results MRI showed anomalous signals in the left temporal and parietal occipital lobes. High signal changes were seen in the DWI sequence, and patchy enhanced signal signs were seen in the left temporal area. Neuropsychological assessment showed that cognitive decline in various fields. Cerebrospinal fluid test showed 1.09g / L protein, lactic acid 3.5mmol / L; immune IgG, IgA, albumin increased. EMG showed bilateral median nerve conduction sensory conduction amplitude decreased. Lactate test showed serum lactate 4.4mmol / L (0.4 ~ 2.0mmol / L) at calmness, and lactate 9.6mmol / L higher than normal after 15min aerobic exercise. Line biceps muscle biopsy pathological findings visible broken red fiber. The hospital sentinel MELAS-related genetic tests m.3243A, m.3250T, m.3251A, m.3252A, m.3271T sites were no exception. Conclusion MELAS-type mitochondrial encephalomyopathy is rare and easily misdiagnosed, and many other laboratory tests such as muscle biopsy are needed for diagnosis. Mutational loci can be used as important evidences for genetic testing.