线粒体肌病与线粒体脑肌病的临床分析

©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.(2008)0620697203,,,,,:2008207219;:2008210231:(,410008):73,4;2;7,;4,,,,:;;;;:R746:ATheclinicalanalysisofmitochondrialmyopathyandmitochondrialencephalomyopathyZHANGNing,SUNXin2gang,LiGang,etal.(DepartmentofNeurology,XiangyaHospital,CentralSouthUniversity,Changsha410008,China)Abstract:ObjectiveToinvestigatethepathogenesis,diagnosis,clinicalandpathologicalfeaturesofthemitochon2drialdiseaseofneuromuscularsystem.MethodSevenpatientswereretrospectivelystudiedintermoftheclinicalmanifes2tations,pathologicalexamination,laboratoryandimagingdata.ResultsThreeofthesevenpatientswerediagnosedasmito2chondrialmyopathy,andfourcasesmitochondrialencephalomyopathy.Thebloodlactatelevelelevatedintwocases.EMGabnormalitiesandcharacteristicchangeofthemusclebiopsywerefoundinallthesevencases.Theabnormalchangesoftheheadimagingwerefoundinthefourcasesofpatientswithmitochondrialencephalomyopathy.ConclusionMitochondrialdiseasemainlyinvolvesthemusclesandcentralnervoussystem.Itsdiagnosismainlydependsonclinicalandpathologicalperformance.Recentlythegeneticstudyanddiagnosticimagingaredevelopingrapidly.Symptomatictreatmentisthemaintreatment.Keywords:Mitochondrialmyopathy;Mitochondrialencephalomyopathy;Pathogenesis;Pathology;Diagno2sis(mitochondrialdisorders),,7,11.17,4,3;745,24.1,24,2CT;2MRI71.2Gomori,22.176,1,1,13,22,12,1,122.27,14,MRI,,(12),CT,2,3.7mmol/L3.9mmol/L2.37796200812256©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.(RRF)(3),,,,,,,,,1MRI,2MRIT23Gomori1020RRF3,80001,MELAS15,80%A3243GtRNA[Leu(UUR)],3271TC[1],,1993AGMELASmtDNA1993,AG(chronicprogressiveexternalophthalmoplegia,CPEO)[2]PEO,mtDNA,,,POLGTK2MPV17Barth,X,,[3]20,,,,2:(1)(mitochondrialmyopathy):;(2)(mitochondrialencephalomyopa2thy):,,,32,,,,4:(1)(mitochondrialencephalomyopathywithlactic896JApoplexyandNervousDiseases,December2008,Vol25,No.6©1994-2010ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.);(2)Kearns2sayre(Kearns2SayreSyndrome,KSS);(3)(chronicprogres2siveexternalophthalmoplegia,CPEO);(4)(myoclonusepilepsyrag2ged2redfibers,MERRF)[4]4,2MELAS,1MERRF,1CPEO,BarthAlpersLeigh()MERRFMELASAlpersLeigh,,Kearns2Sayre[5],CT,2MERRF,,Gomori(RRF),,7RRF,Gomori,RRF,RRF,RRF,RRF5%,,CT,MRIMRS,MR,MRS[6,7],,,,,,22,[8],,ATPQ10B,,;,Luft1962,,,,,[][1]TanjiK,KaufmannP,NainiAB,etal.AnoveltRNA(Val)mitochon2drialDNAmutationcausingMELAS[J].NeurolSci,2008,270(1):23227.[2]MendeS,StorchA,ReichmannH.Geneexpressionprofilingofclassicmitochondrialdisorders.Itsvalueinfindingtherapeuticstrategies[J].Nervenarzt,2007,78(10):115521159.[3]DiMauroS.Mitochondrialmyopathies[J].CurrOpinRheumatol,2006,18(6):6362641.[4],.[J].,2003,16(4):2492250.[5]FilostoM,TomelleriG,ToninP,etal.Neuropathologyofmitochondri2aldiseases[J].BiosciRep,2007,27(1):23230.[6]BianchiMC,SgandurraG,TosettiM,etal.Brainmagneticresonanceinthediagnosticevaluationofmitochondrialencephalopathies[J].BiosciRep,2007,27(13):69285.[7]JosdaRochaA,TlioBragaF,CarlosMartinsMaiaAJr,etal.Lac2tatedetectionbyMRSinmitochondrialencephalopathy:optimizationoftechnicalparameters[J].Neuroimaging,2008,18(1):128.[8]WongLJ.DiagnosticchallengesofmitochondrialDNAdisorders[J].Mitochondrion,2007,7(12):45252.996200812256