脑白质病变

上海交通大学附属第六人民医院付剑亮脑白质病变CerebralWhiteMatterDisease脑白质病变定义脑白质病变病因血管源性白质病变白质病变与认知损害脑白质病变临床常见，多种疾病累及神经系统白质分原发、继发性两大类.病理过程：髓鞘形成延迟、髓鞘形成障碍、脱髓鞘诊断：临床+MRI+病理脑白质病变AnnNYAcadSci.Oct2008;1142:266–309.GeneticDemyelinativeInfectiousInflammatoryToxicEtiologyofCWMDisordersMetabolicVascularTraumaticNeoplasticHydrocephalicDegenerativeGeneticDiseasesLeukodystrophies(e.g.,adrenoleukodystrophy,metachromaticleukodystrophy,globoidcellleukodystrophy)脑白质营养不良（肾上腺、异染性、球样细胞脑营养不良）Vanishingwhitematterdisease白质消融性脑白质病Alexander’sdisease亚历山大病Adult-onsetleukodystrophywithneuroaxonalspheroids神经轴索球样细胞脑白质营养不良Mitochondrialencephalopathywithlacticacidandstroke(MELAS)线粒体脑肌病伴乳酸酸中毒和卒中样发作综合征FragileXtremor-ataxiasyndrome(FXTAS)脆性X相关震颤和(或)共济失调综合征Aminoacidurias(e.g.,phenylketonuria)氨基酸尿（如苯丙酮尿症）Phakomatoses(e.g.,neurofibromatosis)斑痣性错构瘤病Mucopolysaccharidoses粘多糖贮积病Myotonicdystrophy强直性肌营养不良Callosalagenesis新生儿胼胝体发育不良MRIofX-ALD,MLD,GLD,VWMD•(A)X-连锁的肾上腺脑白质营养不良(X-ALD),T1image;•(B)异染性脑白质营养不良(MLD),FLAIRimage;•(C)球形细胞脑白质营养不良(GLD),T2-weightedimage;•(D)白质消融性脑白质病(VWMD),T1-weightedimage.•X-ALD:impairedpsychomotorspeed,spatialcognition,memory,andexecutivefunctions;MLD:psychosis,behavioraldisturbances,anddementia;GLD:hemiparesis,intellectualimpairment,cerebellarataxia,andvisualfailure;AnnNYAcadSci.Oct2008;1142:266–309.神经轴索球样细胞脑白质营养不良(A)FLAIRMRIintheaxialplaneshowingconfluenthighsignalintheperiventricular,deep,andsubcorticalwhitematterofthefrontalandparietallobesextendingthroughthespleniumofthecorpuscallosum.(B)Grosspathologyofacoronalsectionofthecerebralhemisphere,showinggliosisinthecentrumsemiovale(arrow)andinternalcapsule(arrowhead).Thedisorderusuallypresentswithexecutivesystemdysfunctionandotherneurobehavioraldeficits,progressingtodementia.MRIinpatientswithMELAS•Criteriafordiagnosisarestrokelikeepisodesbeforeage40(notconfinedtovascularterritories);encephalopathycharacterizedbyseizures,dementia,orboth;withlacticacidosisand/orragged-redfibers.Recurrentheadacheorvomitingmaybepresent.•PeriventricularanddiffuseWMhyperintensities,aswellasareasofcorticalinfarctionandcerebraledema,areseenonMRI脆性X相关震颤和(或)共济失调综合征•Whitematterpallorisseeninthecerebellarparenchyma(A),aswellasinthemiddlecerebellarpeduncles(B).•Progressivecognitivedeclineischaracterizedbyimpairedexecutivefunction,workingmemory,intelligence,declarativelearningandmemory,informationprocessingspeed,temporalsequencing,andvisuospatialfunctioning,butlanguageisspared.DemyelinativeDiseasesMultiplesclerosisAcutedisseminatedencephalomyelitis急性播散性脑脊髓炎Acutehemorrhagicencephalomyelitis急性出血性脑脊髓炎Schilder’sdisease谢耳德氏病,弥漫性轴周性脑炎Marburg’sdisease马尔堡病Balo’sconcentricsclerosis同心圆性硬化FLAIRMRIinmultiplesclerosis•(A)Whitematterhyperintensityperpendiculartothelateralventricle(Dawson’sfinger),shownbythearrow.(B)Inasecondcase,thefocalareaofhyperintensity(arrow)correspondedtotheinitialclinicalpresentation•CognitiveimpairmentsinMSalsoincludeawiderangeoffocalneurobehavioralsyndromesandneuropsychiatricdisturbancesMRIfeaturesofADEM•(A)CoronalT1-weightedpostgadoliniumimageshowingenhancinglesionsintherightmorethanlefthemispheres.(B)Axialzero-BMRIdemonstrationofthemultiplelesions.(C)FLAIRMRI6monthsaftermarkedclinicalrecoveryshowsmuchimprovedareasofhyperintensity.InfectiousdiseaseHIVandAIDSdementiacomplex艾滋病痴呆综合征Progressivemultifocalleukoencephalopathy进行性多灶性白质脑病Subacutesclerosingpanencephalitis亚急性硬化性全脑炎Progressiverubellapanencephalitis进行性风疹全脑炎Varicellazosterencephalitis水痘-带状疱疹病毒性脑炎Cytomegalovirusencephalitis巨细胞病毒脑炎Lymeencephalopathy莱姆脑病HIV•FLAIRMRIshowinghyperintensitiesinprefrontalwhitematterinapatientwithHIVandcognitiveimpairmentSchmahmannJD,PandyaDN.FiberPathwaysoftheBrain.OxfordUniversityPress;NewYork:2006PML•(A)T2-WIshowsinvolvementofwhitematteroftherightoccipitalregion(arrow),accountingforthehemianopsiainthisHIV-positivepatient.•(B)FLAIRMRIinapatientwithsystemiclymphomaandPML,demonstratingconfluentprefrontalwhitematterlesionspreadingacrossthegenuofthecorpuscallosum(arrow),andadditionallesionsaffectinglocalassociationfibersoftherightprefrontalandparieto-occipitalcortices(arrowheads).•(C,D)AxialFLAIRimagesinanHIV-positivepatientshowingconfluentsubcorticalanddeepwhitematterinvolvementbyPML.Cognitivepresentationsincludefrontallobesyndromesandaphasia,progressingtoquadriparesis,mutism,andunresponsivenessAutoimmuneInflammatoryDiseaseSystemiclupuserythematosus系统性红斑狼疮Behcet’sdisease白塞病,贝西氏病,贝赫切特病Sjögren’ssyndromeWegener’sgranulomatosiTemporalarteritis颞动脉炎Polyarteritisnodosa结节性多动脉炎Scleroderma硬皮病Isolatedangiitisofthecentralnervoussystem孤立的中枢神经系统血管炎Sarcoidosis结节病ToxicDiseasesCranialirradiation颅脑照射Therapeuticdrugs(e.g.,methotrexate甲氨蝶呤,BCNU卡莫司汀,cyclophosphamide环磷酰胺)Drugsofabuse(e.g.,toluene甲苯,heroin海洛因)Toluene:adramaticsyndromeofdementia,ataxia,andotherneurologicsignsAlcohol(Marchiafava–Bignamidisease又称胼胝体变性，一种慢性酒精中毒性疾病)Environmentaltoxins(e.g.,carbonmonoxide)ToxicLeukoencephalopathy•FLAIRMRIintheaxialplaneofapatientwithcognitivedeclineafterreceivingmethotrexateT2-WMRIappearanceintheaxialplaneoftolueneencephalopathyintwopatientsadramaticsyndromeofdementia,atax