CAJ | 학술논문

目的归纳总结线粒体脑肌病伴乳酸中毒和卒中样发作(MELAS)综合征的临床表现、肌肉病理特点及基因突变热点. 方法回顾性分析安徽中医药大学神经病学研究所附属医院神经内科自2008年12月至2015年3月收治的经肌肉病理检查和基因检测确诊的15例MELAS综合征患者的临床表现、肌肉病理特点和基因检测情况. 结果 15例患者中男6例,女9例;发病年龄3～38岁,平均(15.0±9.1)岁;以癫痫为首发症状6例,其次头痛4例及视力下降2例等;病程中癫痫最多见(14例次),其次为头痛(13例次)及卒中发作(7例次)等;颅脑MRI示13例异常,以枕叶受损最多见(10例次),其次为颞叶(7例次)及顶叶(5例次)等.肌肉病理示15例均发现强反应性血管(SSv)现象且SSV现象在细胞色素C氧化酶(CCO)染色中呈活性增强表现,其次为破碎红纤维(RRF)11例次等.基因检测显示13例存在A3243G点突变,2例未发现. 结论 MELAS综合征以癫痫、头痛及卒中发作为主要临床症状,颅脑MRI示以不对称性枕颞顶叶受损为主,肌肉病理以SSV现象最多见,基因突变热点是A3243G点突变.
목적 귀납총결선립체뇌기병반유산중독화졸중양발작(MELAS)종합정적림상표현、기육병리특점급기인돌변열점. 방법 회고성분석안휘중의약대학신경병학연구소부속의원신경내과자2008년12월지2015년3월수치적경기육병리검사화기인검측학진적15례MELAS종합정환자적림상표현、기육병리특점화기인검측정황. 결과 15례환자중남6례,녀9례;발병년령3～38세,평균(15.0±9.1)세;이전간위수발증상6례,기차두통4례급시력하강2례등;병정중전간최다견(14례차),기차위두통(13례차)급졸중발작(7례차)등;로뇌MRI시13례이상,이침협수손최다견(10례차),기차위섭협(7례차)급정협(5례차)등.기육병리시15례균발현강반응성혈관(SSv)현상차SSV현상재세포색소C양화매(CCO)염색중정활성증강표현,기차위파쇄홍섬유(RRF)11례차등.기인검측현시13례존재A3243G점돌변,2례미발현. 결론 MELAS종합정이전간、두통급졸중발작위주요림상증상,로뇌MRI시이불대칭성침섭정협수손위주,기육병리이SSV현상최다견,기인돌변열점시A3243G점돌변.
Objective To conclude the clinical features,pathologic changes and gene mutations of mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episode (MELAS).Methods A restrospective analysis was carried out on the clinical manifeststions,muscle pathologies changes and gene results of 15 patients with MELAS,admitted to our hospital from December 2008 and March 2015.Results In 15 MELAS patients,6 were male and 9 were female.The onset age ranged from 3 to 38 years,with average age of 15.0±9.1 years.Epilepsy as first symptom appeared in 6 patients,headache as first symptom in 4 and vision loss as first symptom in 2.The epilepsy in the course was noted in 14 patients,headache symptoms in 13 and stroke-like onset in 7.Brain MR imaging showed significant abnormality in 13 patients,mainly presented as occipital lobe in 10 patients,temporal lobe in 7 and parietal lobe in 5.The 15 patients were found strongly SDH-reactive blood vessels (SSV) in muscle tissue pathological staining and the SSV of CCO(+),and ragged-red fober in 11 patients.Genetic test indicated mtDNA A3243G mutation in 13 patients.Conclusion The clinical manifestations of MELAS mainly include epilepsy,headache and stroke-like onset;the asymmetry occipital,temporal and parietal lobe damage are showed in the brain MRI;SSV in muscle pathological changes is most common in MELAS;the A3243G mutation in the mitochondrial DNA is the hotspot regin of MELAS.