本文關(guān)鍵詞： MELAS綜合征 臨床表現(xiàn) 影像學(xué)表現(xiàn) 肌肉病理 基因特點(diǎn)　出處：《吉林大學(xué)》2017年碩士論文　論文類型：學(xué)位論文

【摘要】：目的:回顧性分析24例MELAS綜合征的臨床資料,歸納總結(jié)MELAS綜合征的的臨床表現(xiàn)、影像學(xué)特點(diǎn)、病理特點(diǎn)及基因突變熱點(diǎn),旨在提高臨床醫(yī)生對(duì)此病的認(rèn)識(shí)和診斷水平,為MELAS綜合征的早期診斷提供思路,避免誤診誤治。材料和方法:參照2012年Yatsuga等[3]提出的MELAS綜合征的診斷標(biāo)準(zhǔn),收集2003年2月至2016年12月期間,就診于吉林大學(xué)第一醫(yī)院神經(jīng)內(nèi)科門診及住院臨床診斷為MELAS綜合征患者24例,采集其臨床資料(包括臨床表現(xiàn)、實(shí)驗(yàn)室及電生理檢查、影像學(xué)檢查、肌肉病理及基因檢測(cè)結(jié)果)。結(jié)果:(1)一般特點(diǎn):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。就診年齡9~58歲,起病年齡7.5~58歲,病程最長20年,最短7天。家族史2例。(2)臨床特點(diǎn):9例以發(fā)作性抽搐為首發(fā)癥狀,最為常見;4例以言語障礙起病;3例以視力障礙為首發(fā)癥狀;3例以頭痛起病;1例以偏癱起病;2例以肢體無力起病;2例以精神癥狀為首發(fā)癥狀;病程中,卒中樣發(fā)作23例,包括偏癱、偏盲或皮質(zhì)盲、失語(感覺性或運(yùn)動(dòng)性)、言語不清等;癲癇發(fā)作16例;視力障礙16例;頭痛9例;惡心、嘔吐6例;精神癥狀2例,反應(yīng)遲鈍5例;聽力障礙8例;發(fā)育落后5例;記憶力減退9例;不耐受疲勞8例。合并糖尿病8例。合并腎臟損害3例。(3)實(shí)驗(yàn)室及電生理檢查特點(diǎn):24例患者中有10例行靜止時(shí)血清乳酸水平檢測(cè),其結(jié)果顯示均高于正常值。24例患者中有6例行肌電圖檢查,其中3例呈肌源性損害,2例呈神經(jīng)源性損害,1例正常。(4)影像學(xué)檢查特點(diǎn):頭部MRI病灶分布:額葉4例,顳葉16例,頂葉11例,枕葉16例,島葉1例,小腦4例,腦干1例,放射冠區(qū)1例。(5)骨骼肌病理結(jié)果:24例均行骨骼肌病理活檢,17例HE染色肌纖維膜下或邊緣呈嗜堿性;20例MGT染色見破碎紅纖維(RRF);16例NADH染色肌膜下濃染;17例COX染色見陽性肌纖維,5例COX染色見陰性肌纖維;7例SDH染色見藍(lán)纖維(RBF),6例SDH染色可見SSV現(xiàn)象。(6)基因檢測(cè)結(jié)果:24例患者中,有5例行分子遺傳學(xué)檢測(cè),4例存在A3243G點(diǎn)突變,1例未見陽性結(jié)果。結(jié)論:(1)MELAS綜合征多見于青少年,癲癇發(fā)作是最常見的首發(fā)癥狀,卒中樣發(fā)作為MELAS綜合征的核心表現(xiàn)。(2)影像學(xué)特征為病變主要累及顳、頂、枕葉,呈游走性、多變性、可逆性、不按血管分布特點(diǎn)。(3)骨骼肌活檢病理主要表現(xiàn)為MGT染色可見大量RRF;SDH染色可見深染RBF,肌間質(zhì)內(nèi)可見SSV現(xiàn)象,COX染色見陽性肌纖維或陰性肌纖維。(4)骨骼肌病理活檢和基因檢測(cè)是本病的重要診斷依據(jù);基因突變熱點(diǎn)仍是以線粒體DNA A3243G突變最為常見。
[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.
【學(xué)位授予單位】：吉林大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R596;R747.9

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