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目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)的临床、肌肉病理、神经影像及分子病理学特点。方法回顾性分析我科近7年来诊断的31例 MELAS 患者的临床表现、神经影像、肌肉活体组织检查及分子病理学特点,其中13例患者应用限制性片段长度多态性(RFLP)方法对 mtDNA A3243G位点突变进行分析。结果①临床特点:男性18例,女性13例;发病年龄为3～43岁,平均21.9岁;平均病程4.9年。13例有家族史,均符合母系遗传方式。主要临床表现包括:身材矮小(26例),发作性头痛、呕吐(24例),肌无力(22例),癫癎发作(21例),智能减退(19例),视物模糊(17例),听力减退(16例),共济失调(6例),精神异常(8例),眼外肌麻痹(2例),其中9例合并糖尿病。6例患者有肌酶轻度增高。有结果记录的18例患者中有15例空腹血乳酸增高。②神经影像学特点:脑卒中样病灶多位于皮质,常见受累部位依次为:颞叶24例,枕叶21例,顶叶12例,额叶4例,脑深部白质受累者3例,动态检查脑卒中样病灶呈迁移样改变者4例,另外脑萎缩17例,双侧基底节对称性钙化11例。③肌肉活体组织检查病理特点:所有患者改良 Gomori 三色染色均见数量不等的不整红边纤维,27例琥珀酸脱氢酶染色可见强反应性血管,19例患者细胞色素 C 氧化酶染色可见部分酶缺失,20例油红“O”染色示不整红边纤维内脂滴轻度增多。④13例患者 mtDNA 基因突变分析发现9例有 A3243G 点突变。结论发生于中青年和少年儿童的局限于皮质的脑卒中样病灶强烈提示 MELAS 综合征的可能,结合身材矮小、肌无力、神经性耳聋、头痛等伴随症状可做出 MELAS的临床可能诊断,肌肉活体组织检查及 mtDNA 突变分析可为最终确诊提供重要的实验室依据。
Objective To investigate the clinical, muscular pathology, neuroimaging and molecular pathology of mitochondrial encephalomyopathy with hyperlactatemia and stroke-like episode (MELAS). Methods The clinical manifestations, neuroimaging, muscle biopsy and molecular pathological features of 31 patients with MELAS diagnosed in our department in recent 7 years were retrospectively analyzed. Thirteen patients were diagnosed mtDNA by restriction fragment length polymorphism (RFLP) A3243G mutation was analyzed. Results ① Clinical features: 18 males and 13 females; the age of onset was from 3 to 43 years with an average of 21.9 years; the average duration was 4.9 years. 13 cases had a family history, are in line with maternal genetic mode. The main clinical manifestations included: short stature (26 cases), episodic headache, vomiting (24 cases), weakness in the muscles (22 cases), epileptic seizures (21 cases), dementia (19 cases) ), Hearing loss (16 cases), ataxia (6 cases), mental abnormalities (8 cases) and extraocular muscle paralysis (2 cases), of which 9 cases had diabetes mellitus. Six patients had mild muscle enzymes. Fifteen of the 18 patients with documented results showed an increase in fasting blood lactate. ② neuroimaging characteristics: Stroke-like lesions are located in the cortex, the common affected areas were: temporal lobe 24 cases, 21 cases of occipital lobe, parietal lobe 12 cases, frontal lobe 4 cases, brain deep white matter involvement in 3 cases, dynamic examination Stroke-like lesions in 4 cases of migratory changes, another brain atrophy in 17 cases, bilateral basal ganglia symmetrical calcification in 11 cases. ③ muscle biopsy pathological features: all patients with improved Gomori trichrome staining in varying amounts of irregular red edge fibers, 27 cases of succinate dehydrogenase staining can be seen in strong blood vessels, 19 patients with cytochrome C oxidase staining can be seen Partial enzyme loss, 20 cases of oil red “O ” staining showed that the red edge of the fiber lipid droplets increased slightly. ④ 13 cases of mtDNA gene mutation analysis found that 9 cases of A3243G point mutation. CONCLUSIONS: Cortical stroke-like lesions in middle-aged and young children strongly suggest the possibility of MELAS syndrome. Combined with the accompanying symptoms of short stature, muscle weakness, neurological deafness and headache, the clinical diagnosis of MELAS can be made. Muscle Biopsy and mtDNA mutation analysis can provide important laboratory evidence for the final diagnosis.