Developmental neuropathology PDF
Preview Developmental neuropathology
Developmental Neuropathology Developmental Neuropathology SECOND EDITION EDITED BY HOMA ADLE-BIASSETTE Universite´ParisDiderot,Paris BRIAN N. HARDING Children’sHospitalofPhiladelphia,Philadelphia JEFFREY A. GOLDEN RamziS.CotranProfessorofPathology,Boston SERIES EDITORS FRANC¸ OISE GRAY Universite´DenisDiderotParis7,France CATHERINE (KATY) KEOHANE UniversityCollegeCork,Ireland Thisfirstpublished2018 ©2018JohnWiley&SonsLtd Allrightsreserved.Nopartofthispublicationmaybereproduced,storedinaretrievalsystem,ortransmitted, inanyformorbyanymeans,electronic,mechanical,photocopying,recordingorotherwise,exceptaspermitted bylaw.Adviceonhowtoobtainpermissiontoreusematerialfromthistitleisavailableat http://www.wiley.com/go/permissions. TherightofHomaAdle-Biassette,BrianN.HardingandJeffreyA.Goldentobeidentifiedastheauthorsofthe editorialmaterialinthisworkhasbeenassertedinaccordancewithlaw. 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LibraryofCongressCataloging-in-PublicationData Names:Adle-Biassette,Homa,editor.|Harding,Brian(BrianN.),editor.|Golden,JeffreyA.,1961–editor. Title:Developmentalneuropathology/[edited]byHomaAdle-Biassette,BrianHarding,JeffreyA.Golden. Description:Secondedition.|Hoboken,NJ:Wiley,2018.|Includesbibliographicalreferencesandindex.| Identifiers:LCCN2017050347(print)|LCCN2017051636(ebook)|ISBN9781119013099(pdf)|ISBN 9781119013105(epub)|ISBN9781119013082(cloth) Subjects:|MESH:CentralNervousSystemDiseases–genetics|CentralNervousSystemDiseases–pathology| GeneticDiseases,Inborn–pathology|NervousSystemMalformations–pathology Classification:LCCRC347(ebook)|LCCRC347(print)|NLMWL301|DDC616.8/047–dc23 LCrecordavailableathttps://lccn.loc.gov/2017050347 Coverdesignby:Wiley Coverimages:MainimagecourtesyofBrianHarding Smallerimagesfromtoptobottom: 1stonecourtesyofBrianHarding;2ndonecourtesyofJeffGolden; 3rdonecourtesyofPr.HansGoebel;4thonecourtesyofPr.AnnieLaquerrie`re; 5thonecourtesyofJeffGolden Setin9.5/12ptMinionbyAptaraInc.,NewDelhi,India 10 9 8 7 6 5 4 3 2 1 Contents ListofContributors,vii 12 ChiariMalformations,133 HomaAdle-BiassetteandJeffreyA.Golden Introduction,xiii 13 Dandy–WalkerMalformation,MegaCisterna Magna,andBlake’sPouchCyst,141 1 CentralNervousSystemManifestations RobertF.Hevner,KathleenMillen, ofChromosomalChange,1 andWilliamB.Dobyns JosephR.Siebert 14 JoubertSyndrome,151 2 NeuralTubeDefects,13 RobertF.Hevner,WilliamB.Dobyns, AndrewJ.CoppandBrianN.Harding andEnzaMariaValente 3 MidlinePatterningDefects,29 15 CerebellarHeterotopiaandDysplasia,159 EdwinS.MonukiandJeffreyA.Golden MarieRivera-ZengotitaandAnthonyT.Yachnis 4 Microcephaly,41 16 BrainstemMalformations,167 SandrinePassemard,AnnieLaquerrie`re, BrianN.Harding NathalieJourniac,andPierreGressens 17 SpinalCordLesions,179 5 HemimegalencephalyandDysplastic AnnieLaquerrie`reandFlorentMarguet Megalencephaly,55 GhaydaMirzaa,AchiraRoy,WilliamB.Dobyns, 18 Hydrocephalus,187 KathleenMillen,andRobertF.Hevner HomaAdle-Biassette 6 Lissencephaly,TypeI,63 19 AntenatalDisruptiveLesions,199 JeffreyA.Golden BrianN.Harding 7 Lissencephaly,TypeII(CobblestoneLissencephaly),75 20 HemorrhagicLesions,203 JeffreyA.Golden MarcR.DelBigio 8 Polymicrogyria,85 21 WhiteMatterLesionsinthePerinatalPeriod,213 JeffreyA.Golden RobinL.HaynesandRebeccaD.Folkerth 9 CerebralHeterotopia,91 22 GrayMatterLesions,229 EdwinS.MonukiandKeithL.Ligon MarcR.DelBigio 10 HippocampalSclerosis,GranuleCellDispersion, 23 PediatricHeadInjury,241 andCorticalDysplasia,101 ColinSmith,ThomasS.Jacques,andR.RossReichard MariaThom 24 PediatricVascularMalformations,251 11 TuberousSclerosisComplex,117 ShinoD.Magaki,RandyTashjian, ShinoD.MagakiandHarryV.Vinters andHarryV.Vinters v Contents 25 SuddenInfantDeathSyndrome,269 35 CockayneSyndrome,427 HannahC.Kinney,MarcoM.Hefti, KarenM.WeidenheimandP.J.Brooks RichardD.Goldstein,andRobinL.Haynes 36 VanishingWhiteMatterDisease,437 26 Kernicterus,281 MariannaBugiani,JamesM.Powers, MariaritaSantiandLucyB.Rorke andMarjoS.vanderKnaap 27 LesionsInducedbyToxins,285 37 AlexanderDisease,447 MariaritaSanti,LucyB.Rorke, JamesE.GoldmanandMelB.Feany andCatherineKeohane 38 NeuroaxonalDystrophy/Neurodegeneration 28 DisordersofCarbohydrateMetabolism,293 withBrainIronAccumulation,455 JosefineRadke,CarstenG.Bo¨nnemann, AbiLi,SarahWiethoff,CharlesArber,HenryHoulden, WernerStenzel,andHans-H.Goebel TamasRevesz,andJaniceL.Holton 29 SphingolipidosesandRelatedDisorders,313 39 SpinalMuscularAtrophy,469 AnnieLaquerrie`re,SoumeyaBekri,KinokoSuzuki, BrianN.Harding andBrianN.Harding 40 AutismSpectrumDisorders,477 30 TheNeuronalCeroidLipofuscinoses,369 MatthewP.Anderson JosefineRadke,KrystinaE.Wisniewski, 41 IntrauterineInfections,497 WernerStenzel,andHans-H.Goebel CatherineKeohaneandHomaAdle-Biassette 31 PeroxisomalDisorders,381 42 PerinatalandPostnatalInfections,511 PhyllisL.Faust CatherineKeohane 32 MitochondrialDisorders,393 43 RasmussenEncephalitis,531 AndersOldforsandBrianN.Harding HarryV.Vinters,ShinoD.Magaki, 33 DisordersofAminoAcidMetabolismandCanavan andGeoffreyC.Owens Disease,403 DimitriP.Agamanolis Index,537 34 Pelizaeus–MerzbacherDisease,417 BrianN.Harding vi List of Contributors LucyB.Rorke SoumeyaBekri DepartmentofPathologyandLaboratoryMedicine DepartmentofMetabolicBiochemistry Children’sHospitalofPhiladelphia UniversityHospital UniversityofPennsylvaniaPerelmanSchoolofMedicine Rouen Philadelphia,PA France USA CarstenG.Bo¨nnemann HomaAdle-Biassette NeuromuscularandNeurogeneticDisordersofChildhood DepartmentofPathology,APHP,Lariboisie`reHospital, Section Universite´ParisDiderot NationalInstituteofNeurologicalDisordersandStroke/NIH Paris PorterNeuroscienceResearchCenter France Bethesda,MD USA DimitriP.Agamanolis DepartmentofPathology P.J.Brooks AkronChildrensHospital OfficeofRareDiseasesResearchandDivisionofClinical Akron,OH Innovation USA; NationalCenterforAdvancingTranslationalSciences NationalInstitutesofHealthandLaboratoryofNeurogenetics DepartmentofPathology NationalInstituteofAlcoholAbuseandAlcoholism NortheastOhioMedicalUniversities(NEOMED) NationalInstitutesofHealth Rootstown,OH Bethesda,MD USA USA MatthewP.Anderson MariannaBugiani DepartmentofPathology DepartmentsofChildNeurologyandPathology DivisionofNeuropathology VUUniversityMedicalCenter,Amsterdam HarvardMedicalSchool TheNetherlands BethIsraelDeaconessMedicalCenter Boston,MA AndrewJ.Copp USA NewlifeBirthDefectsCentre InstituteofChildHealth CharlesArber UniversityCollegeLondon DepartmentofMolecularNeuroscience London UCLInstituteofNeurology UK UniversityCollegeLondon London UK vii ListofContributors MarcR.DelBigio JamesE.Goldman DepartmentofPathology DepartmentofPathologyandCellBiology UniversityofManitoba ColumbiaUniversity Winnipeg NewYork,NY Canada; USA DiagnosticServicesManitoba RichardD.Goldstein Children’sHospitalResearchInstituteofManitoba DepartmentofGeneralPediatrics Winnipeg Children’sHospitalBoston Canada Boston,MA USA; WilliamB.Dobyns DepartmentofPediatrics HarvardMedicalSchool UniversityofWashington Boston,MA Seattle,WA USA USA; PierreGressens CenterforIntegrativeBrainResearch ParisDiderotUniversity SeattleChildren’sResearchInstitute Paris Seattle,WA France; USA InsermU1141 PhyllisL.Faust RobertDebre´Hospital ColumbiaUniversityDepartmentofPathologyandCell Paris Biology France; NewYork,NY CenterforDevelopingBrain USA King’sCollege,St.Thomas’Campus London MelB.Feany UK DepartmentofPathology BrighamandWomen’sHospital BrianN.Harding HarvardMedicalSchool DepartmentofPathologyandLaboratoryMedicine Boston,MA Children’sHospitalofPhiladelphia USA Philadelphia,PA USA RebeccaD.Folkerth NewYorkCityOfficeoftheChiefMedicalExaminer RobinL.Haynes NewYorkUniversitySchoolofMedicine DepartmentofPathology NewYork,NY BostonChildren’sHospital USA Boston,MA USA Hans-H.Goebel DepartmentofNeuropathology MarcoM.Hefti Charite´Universita¨tsmedizinBerlin DepartmentofPathology Berlin MountSinaiMedicalCenter Germany NewYork,NY USA JeffreyA.Golden DepartmentofPathology RobertF.Hevner BrighamandWomen’sHospital DepartmentofNeurologicalSurgery HarvardMedicalSchool UniversityofWashington Boston,MA Seattle,WA USA USA; viii ListofContributors CenterforIntegrativeBrainResearch Region-InsermTeamNeoVascERI28 SeattleChildren’sResearchInstitute LaboratoryofMicrovascularEndotheliumandNeonatalBrain Seattle,WA lesions USA InstituteofResearchInnovationinBiomedecine NormandyUniversityRouen JaniceL.Holton Rouen QueenSquareBrainBank France RetaLilaWestonInstituteofNeurologicalStudies UCLInstituteofNeurology AbiLi UniversityCollegeLondon QueenSquareBrainBank London RetaLilaWestonInstituteofNeurologicalStudies UK UCLInstituteofNeurology UniversityCollegeLondon HenryHoulden London DepartmentofMolecularNeuroscience UK UCLInstituteofNeurology UniversityCollegeLondon KeithL.Ligon London DivisionofNeuropathology UK DepartmentofPathology BrighamandWomen’sHospital ThomasS.Jacques Boston,MA UCLInstituteofChildHealthandGreatOrmondStreet USA Hospital GreatOrmondStreetHospitalforChildrenNHSFoundation ShinoD.Magaki Trust SectionofNeuropathology London DepartmentofPathologyandLaboratoryMedicine UK DavidGeffenSchoolofMedicine UniversityofCalifornia NathalieJourniac LosAngeles,CA InsermU1141 USA RobertDebre´Hospital Paris FlorentMarguet France DepartmentofPathology RouenUniversityHospital CatherineKeohane Rouen DepartmentofPathologyandSchoolofMedicine France UniversityCollegeCork Ireland KathleenMillen HannahC.Kinney CenterforIntegrativeBrainResearch DepartmentofPathology SeattleChildren’sResearchInstitute BostonChildren’sHospital Seattle,WA Boston,MA USA USA; GhaydaMirzaa HarvardMedicalSchool DepartmentofPediatrics Boston,MA UniversityofWashington USA Seattle,WA USA; AnnieLaquerrie`re DepartmentofPathology CenterforIntegrativeBrainResearch PavillonJacquesDelarue SeattleChildren’sResearchInstitute RouenUniversityHospital Seattle,WA Rouen USA France; ix ListofContributors EdwinS.Monuki TamasRevesz DepartmentofPathologyandLaboratoryMedicine QueenSquareBrainBank UCIrvineSchoolofMedicine RetaLilaWestonInstituteofNeurologicalStudies Irvine,CA UCLInstituteofNeurology USA UniversityCollegeLondon London AndersOldfors UK DepartmentofPathology SahlgrenskaUniversityHospital MarieRivera-Zengotita Gothenburg DepartmentofPathology,Immunology,andLaboratory Sweden Medicine UniversityofFloridaCollegeofMedicine GeoffreyC.Owens Gainesville,FL DepartmentofNeurosurgery USA DavidGeffenSchoolofMedicineandRonaldReaganUCLA MedicalCenter AchiraRoy UniversityofCalifornia CenterforIntegrativeBrainResearch LosAngeles,CA SeattleChildren’sResearchInstitute USA Seattle,WA USA SandrinePassemard DepartmentofGenetics MariaritaSanti RobertDebre´Hospital DepartmentofPathologyandLaboratoryMedicine Paris Children’sHospitalofPhiladelphia France; UniversityofPennsylvaniaPerelmanSchoolofMedicine Philadelphia,PA ParisDiderotUniversity USA Paris France; JosephR.Siebert InsermU1141 DepartmentofLaboratories RobertDebre´Hospital SeattleChildren’sHospital Paris DepartmentsofPathologyandPediatrics France UniversityofWashington Seattle,WA JamesM.Powers USA DepartmentofPathologyandLaboratoryMedicine UniversityRochesterMedicalCenter ColinSmith Rochester,NY AcademicDepartmentofNeuropathology USA CentreforClinicalBrainSciences UniversityofEdinburgh JosefineRadke Edinburgh DepartmentofNeuropathology UK Charite´Universita¨tsmedizinBerlin Berlin WernerStenzel Germany DepartmentofNeuropathology Charite´Universita¨tsmedizinBerlin R.RossReichard Berlin MayoClinic Germany Rochester,MN USA x ListofContributors KinokoSuzuki DepartmentofNeurology DepartmentofPathologyandLaboratoryMedicine DavidGeffenSchoolofMedicineatUCLAandRonaldReagan UniversityofNorthCarolina UCLAMedicalCenter ChapelHill,NC LosAngeles,CA USA USA RandyTashjian KarenM.Weidenheim SectionofNeuropathology DepartmentofPathology(Neuropathology) DepartmentofPathologyandLaboratoryMedicine MontefioreMedicalCenter DavidGeffenSchoolofMedicine AlbertEinsteinCollegeofMedicine UniversityofCalifornia Bronx,NY LosAngeles,CA USA USA SarahWiethoff MariaThom DepartmentofMolecularNeuroscience DepartmentsofNeuropathologyandClinicaland UCLInstituteofNeurology ExperimentalEpilepsy UniversityCollegeLondon UCLInstituteofNeurology London London UK; UK CenterforNeurologyandHertieInstituteforClinicalBrain ResearchEberhard-Karls-University EnzaMariaValente Tu¨bingen SectionofNeurosciences Germany DepartmentofMedicineandSurgery UniversityofSalerno KrystinaE.Wisniewski Fisciano Deceased Italy AnthonyT.Yachnis MarjoS.vandenKnaap DepartmentofPathology,Immunology,andLaboratory DepartmentofChildNeurology Medicine VUUniversityMedicalCenter UniversityofFloridaCollegeofMedicine Amsterdam Gainesville,FL TheNetherlands USA HarryV.Vinters SectionofNeuropathology DepartmentofPathologyandLaboratoryMedicine DavidGeffenSchoolofMedicine UniversityofCalifornia LosAngeles,CA USA; xi
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