MELAS综合征24例临床、影像学、病理及基因分析

发布时间：2018-02-05 17:26

本文关键词： MELAS综合征临床表现影像学表现肌肉病理基因特点　出处：《吉林大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:回顾性分析24例MELAS综合征的临床资料,归纳总结MELAS综合征的的临床表现、影像学特点、病理特点及基因突变热点,旨在提高临床医生对此病的认识和诊断水平,为MELAS综合征的早期诊断提供思路,避免误诊误治。材料和方法:参照2012年Yatsuga等[3]提出的MELAS综合征的诊断标准,收集2003年2月至2016年12月期间,就诊于吉林大学第一医院神经内科门诊及住院临床诊断为MELAS综合征患者24例,采集其临床资料(包括临床表现、实验室及电生理检查、影像学检查、肌肉病理及基因检测结果)。结果:(1)一般特点:24例患者中,男性17例,占70.8%;女性7例,占29.2%。男女比例2.43:1。就诊年龄9~58岁,起病年龄7.5~58岁,病程最长20年,最短7天。家族史2例。(2)临床特点:9例以发作性抽搐为首发症状,最为常见;4例以言语障碍起病;3例以视力障碍为首发症状;3例以头痛起病;1例以偏瘫起病;2例以肢体无力起病;2例以精神症状为首发症状;病程中,卒中样发作23例,包括偏瘫、偏盲或皮质盲、失语(感觉性或运动性)、言语不清等;癫痫发作16例;视力障碍16例;头痛9例;恶心、呕吐6例;精神症状2例,反应迟钝5例;听力障碍8例;发育落后5例;记忆力减退9例;不耐受疲劳8例。合并糖尿病8例。合并肾脏损害3例。(3)实验室及电生理检查特点:24例患者中有10例行静止时血清乳酸水平检测,其结果显示均高于正常值。24例患者中有6例行肌电图检查,其中3例呈肌源性损害,2例呈神经源性损害,1例正常。(4)影像学检查特点:头部MRI病灶分布:额叶4例,颞叶16例,顶叶11例,枕叶16例,岛叶1例,小脑4例,脑干1例,放射冠区1例。(5)骨骼肌病理结果:24例均行骨骼肌病理活检,17例HE染色肌纤维膜下或边缘呈嗜碱性;20例MGT染色见破碎红纤维(RRF);16例NADH染色肌膜下浓染;17例COX染色见阳性肌纤维,5例COX染色见阴性肌纤维;7例SDH染色见蓝纤维(RBF),6例SDH染色可见SSV现象。(6)基因检测结果:24例患者中,有5例行分子遗传学检测,4例存在A3243G点突变,1例未见阳性结果。结论:(1)MELAS综合征多见于青少年,癫痫发作是最常见的首发症状,卒中样发作为MELAS综合征的核心表现。(2)影像学特征为病变主要累及颞、顶、枕叶,呈游走性、多变性、可逆性、不按血管分布特点。(3)骨骼肌活检病理主要表现为MGT染色可见大量RRF;SDH染色可见深染RBF,肌间质内可见SSV现象,COX染色见阳性肌纤维或阴性肌纤维。(4)骨骼肌病理活检和基因检测是本病的重要诊断依据;基因突变热点仍是以线粒体DNA A3243G突变最为常见。
[Abstract]:Objective: to retrospectively analyze the clinical data of 24 cases of MELAS syndrome and summarize the clinical manifestations, imaging features, pathological features and gene mutation hotspots of MELAS syndrome. The aim is to improve the clinical doctors' understanding and diagnosis of the disease, to provide ideas for the early diagnosis of MELAS syndrome and to avoid misdiagnosis and mistreatment. Materials and methods: referring to 2012 Yatsuga et al. [3. The diagnostic criteria for MELAS syndrome were collected from February 2003 to December 2016. Twenty-four patients with MELAS syndrome were diagnosed in Department of Neurology, first Hospital of Jilin University. Clinical data (including clinical manifestation, laboratory and electrophysiological examination, imaging examination) were collected. Results the results of muscle pathology and gene detection were as follows: (1) among the 24 cases of male, 17 cases were male (70.8%). There were 7 cases of female, accounting for 29.2.The ratio of male to female was 2.43: 1.The age of seeing a doctor was 958 years old, the onset age was 7.5 to 58 years, and the longest course of disease was 20 years. The shortest 7 days. 2 cases of family history.) Clinical features: 9 cases with paroxysmal convulsion as the first symptom, the most common; 4 cases with speech disorder; Visual impairment was the first symptom in 3 cases. 3 cases suffered from headache; One patient developed from hemiplegia; 2 cases were caused by limb weakness. Mental symptoms were the first symptom in 2 cases. In the course of the disease, 23 cases had apoplexy, including hemiplegia, hemianopsia or cortical blindness, aphasia (sensory or motor), unclear speech, etc. Epilepsy occurred in 16 cases; 16 cases with visual impairment; Headache 9 cases; Nausea and vomiting in 6 cases; Mental symptoms 2 cases, slow reaction 5 cases; 8 cases with hearing impairment; 5 cases were stunted; 9 cases had memory loss; 8 cases of intolerance fatigue, 8 cases of diabetes mellitus and 3 cases of renal damage. The results showed that electromyography was performed in 6 of the 24 patients above the normal value, of which 3 were myogenic lesions and 2 were neurogenic lesions. Imaging features of 1 case: head MRI lesions: frontal lobe in 4 cases, temporal lobe in 16 cases, parietal lobe in 11 cases, occipital lobe in 16 cases, insular lobe in 1 case, cerebellum in 4 cases, brainstem in 1 case. Pathological results of skeletal muscle in 1 case (1 case / 5) skeletal muscle biopsy was performed in 24 cases. 17 cases were basophilic under or around the fibrous membrane of HE staining. 20 cases were stained with MGT. 16 cases were stained with NADH. Positive muscle fibers were detected in 17 cases by COX staining and negative muscle fibers were found in 5 cases by COX staining. In 7 cases of SDH staining, 6 cases of SDH staining showed SSV phenomenon. The results showed that 5 of 24 cases were detected by molecular genetics. No positive results were found in 4 cases with A3243G point mutation. Conclusion the first episode of epilepsy is the most common symptom in adolescents. As the core manifestation of MELAS's syndrome, apoplexy is characterized by the involvement of temporal, parietal and occipital lobe, which is characterized by vagablity, variability and reversibility. The pathological features of skeletal muscle biopsy were that a large number of RRFs were observed by MGT staining. The pathological biopsy and gene detection of skeletal muscle were the important diagnostic basis for this disease. Mitochondrial DNA A 3243G mutation is the most common gene mutation hotspot.
【学位授予单位】：吉林大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R596;R747.9

【相似文献】