线粒体脑肌病的临床_病理及影像学特点.pdf

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1、临床神经病学杂志2015年第28卷第1期·1··论著·线粒体脑肌病的临床、病理及影像学特点靳陶然，沈宏锐，赵哲，邴琪，李娜，胡静【摘要】目的探讨线粒体脑肌病(ME)的临床、病理及影像学特点。方法回顾性分析20例ME患者的临床资料。结果本组中，慢性进行性眼外肌麻痹(CPEO)7例;肌阵挛性癫痫伴破碎红纤维(MEＲＲF)6例;线粒体脑肌病伴乳酸中毒以及卒中样发作(MELAS)5例;Leigh综合征(LS)2例。临床表现为眼睑下垂7例(35%)，肢体无力12例(60%)，癫痫10例(50%)，卒中样发作5例(25%)和精神智能障碍9例(45%)。8例患者血肌酸激酶升高;7例患者行血

2、乳酸水平检查，均不同程度增高。EMG显示肌源性损害8例，神经源性损害4例，周围神经损害2例，正常6例。头颅MＲI表现为脑萎缩、脑白质变性和不符合血管分布的卒中样改变。骨骼肌病理可见破碎红纤维(ＲＲF)和SDH染色肌间小血管强染(SSV);细胞色素C氧化酶(COX)酶活性减低或缺失。电镜下线粒体结构和/或数量异常。结论ME临床表现复杂多样，多有骨骼肌和脑受累。ＲＲF和SSV是ME主要病理表现。【关键词】线粒体脑肌病;骨骼肌活检;破碎红纤维;病理学【中图分类号】Ｒ74【文献标识码】A【文章编号】1004-1648(2015)01-0001-04Clinical，pathologi

3、calandimagingfeaturesofmitochondrialencephalomyopathiesJINTao-ran，SHENHong-rui，ZHAOZhe，etal．DepartmentsofCadreward，theThirdHospitalofHebeiMedicalUniversity，Shijiazhuang050051，ChinaAbstract:ObjectiveToinvestigatedtheclinical，pathologicalandimagingfeaturesofmitochondrialencephalomyopathies(ME

4、)．MethodsTheclinicaldataof20patientswithMEwereanalyzedretrospectively．ＲesultsInthisgroup，chronicprogressiveexternalophthalmoplegia(CPEO)wasin7cases，myoclonicepilepsyassociatedwithraggedredfibers(MEＲＲF)wasin6cases，mitochondrialencephalomyopathy，lacticacidosisandstroke-likeevents(MELAS)wasin5

5、cases，andLeighsyndrome(LS)wasin2cases．Clinicalmanifestationswereexternalophthalmoplegia(7cases，35%)，limbamyosthenia(12cases，60%)，epilepsy(10cases，50%)，stroke-likeepisodes(5cases，25%)，disturbanceofintelligenceandpsychonosema(9cases，45%)．Theleveloflacticacidincreasedwasin8cases．Thelevelofcrea

6、tinekinasewasdetectedin7cases，andallofthemwereincreasedindifferentdegree．EMGexaminationsshowedmyogenicwasin8cases，neurogenicwasin4cases，neripheralnervewasin2cases，and6caseswerenormal．ThebrainMＲIshowedthatencephalatrophy，myelinopathyandmultifocallesionsnotconformingtothedistributionofmajorar

7、terieswereexistent．Skeletalmusclebiopsyshowedtherewasplentyofraggedredfibers(ＲＲF)andstronglySDH-reactivevessel(SSV)．Theactivityofcytochromecoxidase(COX)wasdecreasedorabsentinsomefibers．Transmissionelectromicroscopeshowedthatmitochondriawithabnormalappear