Perinatal Neuropathology PDF
Preview Perinatal Neuropathology
PERINATAL NEUROPATHOLOGY Mirna Lechpammer Marc Del Bigio Rebecca Folkerth Perinatal Neuropathology Perinatal Neuropathology Mirna Lechpammer, MD, PhD FoundationMedicine,Inc. NewYorkUniversitySchoolofMedicine Marc R. Del Bigio, MD, PhD UniversityofManitoba Rebecca D. Folkerth, MD NewYorkUniversitySchoolofMedicine Chapter Contributors Sanda Alexandrescu, MD BostonChildren’sHospital,HarvardMedicalSchool Steven A. Moore, MD, PhD UniversityofIowa UniversityPrintingHouse,CambridgeCB28BS,UnitedKingdom OneLibertyPlaza,20thFloor,NewYork,NY10006,USA 477WilliamstownRoad,PortMelbourne,VIC3207,Australia 314–321,3rdFloor,Plot3,SplendorForum,JasolaDistrictCentre, NewDelhi–110025,India 79AnsonRoad,#06–04/06,Singapore079906 CambridgeUniversityPressispartoftheUniversityofCambridge. ItfurtherstheUniversity’smissionbydisseminatingknowledgeinthe pursuitofeducation,learning,andresearchatthehighestinternational levelsofexcellence. www.cambridge.org Informationonthistitle:www.cambridge.org/9781108831727 DOI:10.1017/9781316671863 MirnaLechpammer,MarcDelBigio,RebeccaFolkerth©2021 Thispublicationisincopyright.Subjecttostatutoryexceptionandtothe provisionsofrelevantcollectivelicensingagreements,noreproductionof anypartmaytakeplacewithoutthewrittenpermissionofCambridge UniversityPress. Firstpublished2021 PrintedinSingaporebyMarkonoPrintMediaPteLtd AcataloguerecordforthispublicationisavailablefromtheBritishLibrary. LibraryofCongressCataloging-in-PublicationData Names:Lechpammer,Mirna,author.|DelBigio,Marc,author.|Folkerth, Rebecca,author. Title:Perinatalneuropathology/MirnaLechpammer,M.D.,Ph.D., FoundationMedicineInc.,Cambridge,MA,NewYorkUniversitySchool ofMedicine,NewYorkCity,MarcDelBigio,M.D.,Ph.D.,Universityof Manitoba,Winnipeg,RebeccaFolkerth,M.D.,NewYorkUniversity SchoolofMedicine,NewYorkCity;chaptercontributors,Sanda Alexandrescu,M.D.,BostonChildren’sHospital,HarvardMedical School,Boston,StevenA.Moore,M.D.,Ph.D.,UniversityofIowa,Iowa City.Originalcoverart:EricP.Lechpammer,Boston. Description:NewYork,NY:CambridgeUniversityPress,2021.| Includesbibliographicalreferencesandindex. Identifiers:LCCN2020047394(print)|LCCN2020047395(ebook)| ISBN9781108831727(hardback)|ISBN9781316671863(ebook) Subjects:LCSH:Nervoussystem–Diseases.|Perinatology. Classification:LCCRC346.L4282021(print)|LCCRC346(ebook)| DDC616.8–dc23 LCrecordavailableathttps://lccn.loc.gov/2020047394 LCebookrecordavailableathttps://lccn.loc.gov/2020047395 ISBN978-1-108-83172-7Hardback ISBN978-1-316-67186-3CambridgeCore ISBN978-1-107-15979-2Print-OnlineBundle CambridgeUniversityPresshasnoresponsibilityforthepersistenceor accuracyofURLsforexternalorthird-partyinternetwebsitesreferredto inthispublicationanddoesnotguaranteethatanycontentonsuch websitesis,orwillremain,accurateorappropriate. ........................................................................................................... Everyefforthasbeenmadeinpreparingthisbooktoprovideaccurateand up-to-dateinformationthatisinaccordwithacceptedstandardsand practiceatthetimeofpublication.Althoughcasehistoriesaredrawnfrom actualcases,everyefforthasbeenmadetodisguisetheidentitiesofthe individualsinvolved.Nevertheless,theauthors,editors,andpublisherscan makenowarrantiesthattheinformationcontainedhereinistotallyfree fromerror,notleastbecauseclinicalstandardsareconstantlychanging throughresearchandregulation.Theauthors,editors,andpublishers thereforedisclaimallliabilityfordirectorconsequentialdamagesresulting fromtheuseofmaterialcontainedinthisbook.Readersarestrongly advisedtopaycarefulattentiontoinformationprovidedbythe manufacturerofanydrugsorequipmentthattheyplantouse. Contents Preface ix Acknowledgments x ListofAbbreviations xi Section 1 Techniques and Practical TissueSelection 59 Considerations 13 SelectionofBrainAreasforMicroscopic Examination 59 ApproachtoAutopsyofthePerinatalNervous MirnaLechpammerandRebeccaFolkerth System 1 14 TechnicalConsiderationsinPerinatalCNSTissue 1 ClinicalConsiderations 1 Processing 62 RebeccaFolkerth MirnaLechpammer 2 Imaging 3 15 StainingTechniques 65 RebeccaFolkerth MarcDelBigio 3 ExternalExamoftheFetus/Infant 5 RebeccaFolkerth Reporting 71 4 AutopsyandResearchConsent 8 16 FormulationofDiagnosis 71 MarcDelBigio RebeccaFolkerth 17 ReportingTemplates 73 AncillaryStudies 13 MirnaLechpammer 5 Microbiology 13 18 MedicolegalConsiderations 79 MirnaLechpammer RebeccaFolkerth 6 CytogeneticsandMolecularDiagnostics 25 MirnaLechpammer 7 MetabolicStudies 31 Section2HumanNervousSystemDevelopment MirnaLechpammer NeuroanatomicSiteDevelopment 81 8 Toxicology 39 MirnaLechpammer 19 HumanNervousSystemDevelopment:Embryonic andEarlyFetalEvents 81 MarcDelBigio ProsectionTechniques 45 20 CerebralCortex,IncludingGerminalMatrix 88 9 BrainProsection 45 MarcDelBigio MarcDelBigio 21 WhiteMatter,IncludingMyelination 101 10 SpinalCordProsection 50 RebeccaFolkerth RebeccaFolkerth 22 Cerebellum:DevelopmentoftheRhombicLip, 11 NeuromuscularSpecimens 53 CerebellarCortex,DentateNucleus 107 MirnaLechpammer RebeccaFolkerth 12 EyeSpecimens 56 23 SpinalCord 111 MirnaLechpammer MirnaLechpammer v Contents 24 SkeletalMuscleandPeripheralNerve 115 Cerebellum 205 MirnaLechpammer 36 CerebellarLesions 205 25 FetalandInfantEye 119 RebeccaFolkerth MirnaLechpammer Section 5 Malformations GrowthParameters 123 26 HeadSizeandBrainWeight 123 NeuralTubeDefectsandPatterning Defects 211 MarcDelBigio 37 DefectsofNeuralTubeClosureandAxial MesodermalDefects 211 Section 3 Stillbirth MarcDelBigio Autolysis,Artifacts,andStillbirths 131 38 DisordersofEarlyMidlinePatterning 223 27 AutolysisandArtifacts 131 MarcDelBigio MarcDelBigio Hydrocephalus 231 Stillbirths 139 39 FetalandPerinatalHydrocephalus 231 28 NeuropathologyofStillbirth 139 MarcDelBigio MarcDelBigioandRebeccaFolkerth NeuronalMigrationDisorders 243 40 CerebralCorticalMigrationDisorders 243 Section 4 Disruptions / Hypoxic-Ischemic Injury RebeccaFolkerth CellularResponses 145 GeneticSyndromesand 29 NeuronalDeath 145 Phakomatoses 255 MarcDelBigio 41 FragileXSyndrome 255 30 MacroglialReactions 155 MirnaLechpammer MarcDelBigio 42 DownSyndrome-Trisomy21 260 31 InflammatoryResponses 159 MirnaLechpammer MarcDelBigio 43 EdwardsSyndrome-Trisomy18 265 MirnaLechpammer GrayMatter 165 44 PatauSyndrome-Trisomy13 269 32 SupratentorialGrayMatterDamageand MirnaLechpammer Disruptions 165 MarcDelBigio 45 TuberousSclerosisComplex 273 MirnaLechpammer 33 BrainstemandSpinalCordDisruptions 178 RebeccaFolkerth 46 Sturge-WeberSyndrome 278 MirnaLechpammer WhiteMatter 183 47 NeurocutaneousMelanosis 281 MirnaLechpammer 34 PeriventricularLeukomalaciaandDiffuseWhite MatterInjury 183 RebeccaFolkerth Section 6 Perinatal Neurooncology GerminalMatrix 193 48 CongenitalandPerinatalBrain 35 PeriventricularandIntraventricularBrain Tumors 285 Hemorrhage 193 SandaAlexandrescu MarcDelBigio vi Contents Section 7 Spinal and Neuromuscular Disorders Section 10 Metabolic / Toxic Disorders Arthrogryposis 301 StorageDiseases 365 49 ArthrogryposisMultiplexCongenita 301 59 LysosomalDisorders 365 MirnaLechpammer MirnaLechpammer 60 PeroxisomalDisorders 378 SpinalMuscularAtrophy 305 MirnaLechpammer 50 SpinalMuscularAtrophy(SMA) 305 RebeccaFolkerthandStevenA.Moore Kernicterus 385 61 ClinicopathologicalFeaturesofKernicterus 385 Early-OnsetHereditaryNeuropathies 309 MirnaLechpammer 51 Charcot-Marie-Tooth(CMT)Neuropathies 309 MirnaLechpammerandStevenA.Moore MitochondrialDiseases 391 62 ClinicopathologicalFeaturesofMitochondrial CongenitalMuscleDisorders 313 Diseases 391 MirnaLechpammer 52 CongenitalMyasthenicSyndromes 313 RebeccaFolkerthandStevenA.Moore MaternalToxinExposure 403 53 CongenitalMuscularDystrophies 317 RebeccaFolkerthandStevenA.Moore 63 EthanolandOtherAgents 403 MarcDelBigio 54 CongenitalMyopathies 324 RebeccaFolkerthandStevenA.Moore 55 OtherCongenitalMuscleDisorders 329 Section 11 Forensic Neuropathology RebeccaFolkerth Trauma 411 64 BirthTrauma 411 Section 8 Eye Disorders MarcDelBigio 56 CongenitalEyeMalformationsand 65 AccidentalandNonaccidentalDeath 421 Deformations 333 RebeccaFolkerth MirnaLechpammer SuddenUnexpectedDeath 431 Section 9 Infections 66 SuddenUnexpectedDeathinInfancyand Childhood 431 InUteroInfections 339 RebeccaFolkerth 57 CongenitalViral,Bacterial,andParasitic Infections 339 MarcDelBigio Peri-andPostnatalInfections 359 Appendix1 TechnicalConsiderationsinPerinatal CNS 437 58 MeningitisandEncephalitis 359 Index 438 RebeccaFolkerth vii
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