Holdings: Handbook of pediatric autopsy pathology

Handbook of pediatric autopsy pathology:

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Main Authors:	Gilbert-Barness, Enid (Author), Spicer, Diane E. (Author), Steffensen, Thora S. (Author)
Format:	Book
Language:	English
Published:	New York [u.a.] Springer 2014
Edition:	2. ed.
Subjects:	Kind Obduktion Pathologie
Online Access:	Inhaltsverzeichnis
Physical Description:	XXXVIII, 749 S. zahlr. Ill.
ISBN:	9781461467106

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adam_text	Titel: Handbook of pediatric autopsy pathology Autor: Gilbert-Barness, Enid Jahr: 2014 Contents Part I General Principles 1 Introduction and General Principles of Autopsy................................................3 The Death Certificate................................................................................................3 Deaths That Must Be Referred to a Medical Examiner............................................3 Jurisdiction of the Medical Examiner......................................................................3 Manners of Death....................................................................................................3 Benefits of the Autopsy............................................................................................3 Medical Research................................................................................................3 Legal....................................................................................................................4 Family..................................................................................................................4 Persons Who May Make an Anatomical Gift of the Body or Organs of the Deceased Person in the United States............................................................4 Part II Techniques 2 Pediatric Autopsy: Fetus, Newborn, and Child....................................................7 Roentgenographic Examination................................................................................7 Photographs..............................................................................................................7 Equipment................................................................................................................8 Clinical Information..................................................................................................8 Preautopsy Considerations........................................................................................10 External Examination..............................................................................................10 Cytogenetics............................................................................................................12 Initial Incision..........................................................................................................13 In Situ Examination of the Abdomen......................................................................13 In Situ Examination of the Thorax..........................................................................15 Opening the Heart In Situ........................................................................................19 Evisceration..............................................................................................................21 Cerebrospinal Fluid Culture....................................................................................23 Removal of the Brain................................................................................................24 The Pituitary............................................................................................................28 Removal of the Spinal Cord: Anterior Approach....................................................28 Bone Marrow Preparations......................................................................................29 Smears..................................................................................................................29 Reconstruction of the Body......................................................................................30 Dissecting the Organ Block......................................................................................32 Microscopic Examination........................................................................................34 Sectioning the Brain After Fixation..........................................................................35 Artifacts....................................................................................................................37 The Stillborn Autopsy..............................................................................................37 Provisional Anatomic Diagnosis (PAD)..................................................................38 xvii xviii Special Dissections................................................. Thoracic Duct......................................................................................................^8 Removal of the External Genitalia......................................................................40 Examination of the Cardiac Conduction System................................................40 Removing the Brain and Spinal Cord Intact: Posterior Approach......................42 Removal of the Eyes............................................................................................46 Techniques of Brain Removal for Examination in Suspected Malformations................................................................................46 Removing the Temporal Bone............................................................................47 Inflation of the Lungs with Formalin........................................................................47 Hepatic Angiography................................................................................................47 Preparation of Corrosion Casts of Hepatic Vessels and Bile Ducts....................47 Gross Staining for Iron in the Liver....................................................................48 Pancreas: Special Techniques..................................................................................48 Gastrointestinal Tract: Special Techniques..............................................................48 Esophagus............................................................................................................48 Angiography........................................................................................................48 Perfusion..............................................................................................................48 Preparation of Specimens for Study Under the Dissecting Microscope..................49 Appendix 1: Clinical Information and Autopsy Checklist......................................50 Appendix 2: Autopsy Protocol................................................................................51 Appendix 3: List of Blocks......................................................................................54 Appendix 4: List of Blocks—Neuropathology........................................................54 Appendix 5: Criteria Estimating Fertilization Age During Fetal Period..................54 Appendix 6: Growth Characteristics of Placenta and Fetus....................................55 Appendix 7: Body Surface Area in Children............................................................55 Appendix 8: Development and Growth of the External Dimensions of the Human Body..................................................................................................56 Appendix 9a, b: Development and Growth of the External Dimensions of the Human Body..................................................................................................56 Appendix 10: Intrauterine Growth of Live-Born Caucasian Infants at Sea Level.. 57 Appendix 11: Intrauterine Growth of Live-Born Caucasian Infants at Sea Level. . 58 Appendix 12: Intrauterine Growth of Live-Born Caucasian Infants at Sea Level. . 59 Appendix 13: Intrauterine Growth of Live-Born Caucasian Infants at Sea Level. . 59 Appendix 14: Hand Measurements by Age..............................................................60 Appendix 15: Hand Middle Finger and Palm Length..............................................62 Appendix 16: Palpebral Fissure Length From 29 Week Gestation to 14 Years ... 62 Appendix 17: Palpebral Fissure Length From 29 Week Gestation to 14 Years ... 63 Appendix 18: Postnatal Growth in Infants Born After 30 Week Gestation..............64 Appendix 19: Fetal Organ Weights as a Function of Body Weight..........................65 Appendix 20: Means and Standard Deviations of Organ Weights and Measurements of Live-Born Infants..................................................................66 Appendix 21: Means and Standard Deviations of Organ Weights and Measurements of Stillborn Infants....................................................................67 Appendix 22: Percentiles of Weights from Age 1-12 Month..................................68 Appendix 23: Percentiles of Body Length from 1 to 12 Month of Age..................69 Appendix 24: Organ Weights in Children................................................................70 Appendix 25: Weights of All Four Parathyroid Glands Combined (mg)................71 Appendix 26: Protocol for Gross Examination of the Brain....................................71 Appendix 27: Brain Weight as a Function of Age in Children and Adolescents . . 72 Appendix 28: Gestational Development of the Cerebral Hemispheres....................73 Appendix 29: Regional Development of the Cerebral Hemispheres........................74 Appendix 30: Gyral Pattern of the Fetal Brain........................................................75 xix Appendix 31: Gyral Pattern of the Perinatal Brain..................................................76 Appendix 32: Surfaces of Cerebral Hemispheres for Use in Indicating Lesions..........77 Appendix 33: Gestational Age and Mean Organ Weights and Measurements with 1 Standard Deviation (SD)................................................................................78 Appendix 34: Reference Values for Transverse Cerebellar Diameter Throughout Gestation..............................................................................................79 Appendix 35: Reference Values for Second Trimester Fetal and Neonatal Organ Weights and Measurements..........................................................................80 Appendix 36: Reference Values for Second Trimester Fetal and Neonatal Organ Weights and Measurements..........................................................................81 Appendix 37: Reference Values for Second Trimester Fetal and Neonatal Organ Weights and Measurements..........................................................................82 Bibliography............................................................................................................83 3 Examination of the Human Embryo....................................................................85 Development of the Chorionic Sac..........................................................................88 Stages of Embryonic Development..........................................................................88 Examination of the Early Abortus............................................................................91 Artifacts....................................................................................................................95 Growth Disorganization............................................................................................98 Growth Disorganization Type I (GD I)................................................................98 Growth Disorganization Type II (GD II)............................................................98 Growth Disorganization Type III (GD III)..........................................................98 Growth Disorganization Type IV (GD IV)..........................................................100 Examination of Fetuses from 9 to 20 Weeks of Gestation......................................100 Equipment............................................................................................................100 External Examination..........................................................................................100 Initial Incision......................................................................................................103 In Situ Examination of the Abdomen and Thorax..............................................103 Examination of the Brain....................................................................................105 Artifacts................................................................................................................107 Examination of Dilatation and Evacuation Specimens............................................107 Appendix 1: Specimen Evaluation and Collection..................................................116 Appendix 2: Instructions for Mailing Aborted Tissue..............................................117 Appendix 3: Timetable of Human Prenatal Development 1-6 Weeks/7-10 Weeks ..........................................................................................118 Appendix 4: Criteria for Estimating Fertilization Age During the Fetal Period........................................................................................................120 Appendix 5: Crown-Rump Length and Developmental Age in Previable Fetuses..................................................................................................121 Appendix 6: Weights and Measurements of Fetuses of 8-26-Week Gestation (Mean Values)..........................................................................................122 Appendix 7: Hand and Foot Lengths Correlated with Developmental Age in Previable Fetuses..........................................................................................122 Appendix 8: Body Measurements with Relationship to Fetal Age..........................123 Appendix 9: Organ Weights with Relationship to Fetal Age..................................123 Bibliography............................................................................................................124 4 The Placenta............................................................................................................125 Maturation of the Placenta........................................................................................125 Selection of Placentas to Be Examined....................................................................125 Handling of the Placenta..........................................................................................126 Immediate Examination of the Fresh Placenta........................................................127 Sectioning for Histology..........................................................................................127 XX Gross and Microscopic Evaluation of the Placenta..................................................129 Umbilical Cord.................................................................................................... 29 Membranes and Fetal Surface of the Placenta....................................................134 Placental Disk......................................................................................................141 Microscopic Placental Pathology........................................................................151 Fetal Vascular Obstruction........................................................................................154 Maternal Vascular Underperfusion..........................................................................156 Placenta from Multiple Pregnancies........................................................................157 Placental Changes Related to Fetal Demise In Utero..............................................158 Molar Pregnancy..................................................................................................158 Appendix 1: Placenta Gross Dictation......................................................................163 Appendix 2: Placental Weights for Normal Fetuses at Developmental Ages 8-18 Weeks......................................................................................................163 Appendix 3: Percentiles, Means, and Standard Deviations for Placental Weights by Gestational Age................................................................164 Appendix 4: Mean Weights and Percentiles for Twin Placentas..............................165 Appendix 5: Mean Weights and Percentiles for Triplet Placentas..........................165 Appendix 6: A Checklist for Umbilical Cords........................................................165 Appendix 7: Conditions Associated with Short Cords............................................165 Appendix 8: Conditions Associated with Long Cords ( 70 cm)............................166 Bibliography............................................................................................................166 Part III Developmental Disorders 5 Hydrops, Cystic Hygroma, Fetal Hydrothorax, and Fetal Ascites....................171 Fetal Hydrops............................................................................................................171 Pathogenesis and Cause......................................................................................171 Pathology............................................................................................................172 Posterior Cervical Cystic Hygroma..........................................................................174 Embryology and Pathogenesis............................................................................175 Cause....................................................................................................................176 Pathology............................................................................................................177 Fetal Hydrothorax....................................................................................................178 Cause....................................................................................................................178 Fetal Pericardial Effusions..................................................................................178 Fetal Ascites..............................................................................................................179 Cause....................................................................................................................179 Urinary Ascites....................................................................................................179 Bibliography............................................................................................................180 6 Chromosomal Defects............................................................................................181 Cytogenic Terminology............................................................................................181 Pathologic Abnormalities in Chromosomal Defects................................................182 Confined Placental Mosaicism............................................................................182 Trisomy 21..........................................................................................................183 Trisomy 13..........................................................................................................183 Trisomy 18..........................................................................................................183 Cri du Chat Syndrome (del lip)..........................................................................186 Trisomy 8............................................................................................................186 Triploidy..............................................................................................................188 Monosomy X (Turner Syndrome)........................................................................192 Bibliography............................................................................................................195 xxi 7 Congenital Abnormalities........................................... 197 Concepts and Terms of Morphogenesis.................................. 197 Mild Malformations Versus Minor Anomalies............................ 199 Examples of Defects of Blastogenesis: Developmental Field Defects.......... 199 Robinson Defect................................................. 199 Otocephaly..................................................... 199 Holoprosencephaly............................................... 199 Acrocephalosyndactyly Syndromes....................................................................200 Malformation Syndrome..........................................................................................200 Seckel Syndrome................................................................................................200 Roberts Syndrome................................................................................................200 Opitz Syndrome..................................................................................................201 Brachmann-de Lange Syndrome (BDLS)..........................................................202 Meckel Syndrome................................................................................................204 Craniosynostosis Syndromes..............................................................................204 Disruptions: Secondary Malformation....................................................................204 Teratogenic Disruptions......................................................................................204 Fetal Alcohol Syndrome......................................................................................206 Radiation Disruption............................................................................................207 Metabolic Disruptions..........................................................................................207 Infectious Disruptions..........................................................................................208 Early and Late Amnion Rupture..............................................................................208 The ADAM Complex..........................................................................................208 Ischemic and Vascular Disruptions......................................................................209 Twinning Disruption............................................................................................209 Hyperthermia......................................................................................................209 Dysplasias................................................................................................................210 Nonmetabolic Dysplasia..........................................................................................211 Beckwith-Wiedemann Syndrome (BWS)..........................................................211 Hamartosis Syndromes............................................................................................212 Neurofibromatosis (NF)......................................................................................212 Tuberous Sclerosis..............................................................................................213 von Hippel-Lindau Syndrome (VHL)................................................................213 Marfan Syndrome................................................................................................215 Metabolic Dysplasias................................................................................................217 Zellweger Syndrome............................................................................................217 Smith-Lemli-Opitz Syndrome............................................................................219 Associations..............................................................................................................220 VATER Association............................................................................................220 MURCS Association............................................................................................220 CHARGE Association........................................................................................220 SCHISIS Association and Its Variants................................................................220 Deformations............................................................................................................220 Pena-Shokeir Phenotype....................................................................................220 Sequences................................................................................................................222 Potter Sequence....................................................................................................222 Pierre Robin Sequence........................................................................................222 Prune-Belly Sequence and Related Defects........................................................222 Chromosome Microdeletion Syndromes..................................................................224 Appendix 1: Congenital Abnormalities in Embryos and Fetuses by Age................225 Appendix 2: Dysmorphology Examination..............................................................226 Bibliography............................................................................................................227 xxii Part IV Organ Systems and Metabolic Disorders 8 Cardiovascular System..........................................................................................231 The Morphologic Method and Sequential Segmental Analysis..............................231 Atrial Morphology....................................................................................................234 Bronchial Morphology..............................................................................................234 Ventricular Morphology............................................................................................236 Ventricular Topology................................................................................................238 Arterial Trunks..........................................................................................................238 Atrioventricular Connections....................................................................................240 Ventricular Relationships..........................................................................................241 Arterial Relationships..............................................................................................241 Ventriculoarterial Connections................................................................................241 Examination of the Coronary Arteries......................................................................242 Coronary Arterial Anatomy......................................................................................243 Coronary Veins........................................................................................................245 Congenital Malformations........................................................................................245 Isomerism of the Atrial Appendages........................................................................245 Isomerism of the Right Atrial Appendages........................................................245 Isomerism of the Left Atrial Appendages............................................................249 Persistent Left Superior Caval Vein........................................................................249 Anomalous Pulmonary Venous Connections............................................................249 Atrial Septal Defects................................................................................................255 Interatrial Communications................................................................................259 Atrioventricular Septal Defect..................................................................................259 Ventricular Septal Defect..........................................................................................262 Hypoplasia of the Left Heart....................................................................................264 Hypoplasia of the Right Heart..................................................................................267 Pulmonary Atresia with Intact Ventricular Septum............................................267 Tricuspid Atresia..................................................................................................270 Double-Inlet Ventricle (Functionally Univentricular Heart)....................................270 Ebstein Malformation..............................................................................................274 Mitral Valve Defects................................................................................................275 Tetralogy of Fallot....................................................................................................275 Tetralogy of Fallot with Pulmonary Atresia........................................................276 Transposition............................................................................................................281 Congenitally Corrected Transposition......................................................................283 Double-Outlet Right Ventricle..................................................................................284 Common Arterial Trunk..........................................................................................288 Patent Arterial Duct..................................................................................................289 Premature Closure of the Arterial Duct....................................................................289 Aortic and Pulmonary Stenosis................................................................................289 Coronary Arterial Anomalies..................................................................................290 Coarctation of the Aorta..........................................................................................296 Interrupted Aortic Arch............................................................................................297 Vascular Rings and Slings........................................................................................298 Methods of Dissection..............................................................................................303 Following the Flow of Blood..............................................................................303 Tomographic Methods of Dissection..................................................................303 Windowing the Heart..........................................................................................306 Repairing Mistakes..............................................................................................308 Dissection of the Conduction System......................................................................308 Ectopia Cordis..........................................................................................................312 xxiii Endocardial Fibroelastosis........................................................................................312 Mitral Valve Prolapse................................................................................................313 Conduction Defects with Pathologic Changes..........................................................313 Arrhythmogenic Right Ventricular Dysplasia......................................................313 Histiocytoid (Oncocytic) Cardiomyopathy..........................................................314 Noncompaction of the Left Ventricle..................................................................315 Cardiomyopathy......................................................................................................315 Idiopathic Dilated Cardiomyopathy....................................................................315 Hypertrophic Cardiomyopathy............................................................................315 Metabolic Cardiomyopathies....................................................................................317 Myocarditis..............................................................................................................317 Infective Endocarditis..........................................................................................319 Ischemic Myocardial Necrosis............................................................................320 Appendix 1: Autopsy Checklist for Evaluation of Congenital Heart Disease..........322 Appendix 2: Female Infant Heart Weights and Measurements................................325 Appendix 3: Male Fetus and Newborn Heart Weights and Measurements..............325 Appendix 4: Male Infant Heart Weights and Measurements....................................326 Appendix 5: Perfusion Fixation of the Heart............................................................327 Appendix 6: Paraffin Preservation of Heart Specimens..........................................327 Bibliography............................................................................................................328 9 Respiratory System................................................................................................329 Development of the Human Respiratory Tract........................................................329 Respiration Before Birth......................................................................................329 Respiration After Birth........................................................................................330 Evidence of Live Birth........................................................................................330 Developmental Abnormalities of the Mouth, Nose, and Larynx..............................331 Cleft Palate..........................................................................................................331 Choanal Atresia....................................................................................................331 Anterior Nasal Obstruction..................................................................................331 Laryngomalacia....................................................................................................331 Congenital Paralysis of Vocal Cord....................................................................331 Laryngeal Stenosis..............................................................................................331 Laryngeal Atresia................................................................................................331 Laryngotracheoesophageal Cleft........................................................................332 Laryngotracheal Papillomatosis..........................................................................332 Developmental Abnormalities of the Trachea..........................................................332 Tracheal Agenesis................................................................................................333 Tracheomalacia....................................................................................................333 Tracheal Stenosis................................................................................................333 Tracheobronchomegaly (Mounier-Kuhn Syndrome)..........................................333 Tracheoesophageal Fistula (TEF)........................................................................334 VATER/VACTERL Association..........................................................................334 Short Right Main Bronchus................................................................................334 Bronchial (Pulmonary) Isomerism Syndromes....................................................334 Bronchomalacia..................................................................................................336 Bronchial Atresia................................................................................................336 Bronchiectasis......................................................................................................336 Immotile Cilia Syndrome and Kartagener Syndrome..........................................337 Congenital Lobar Emphysema............................................................................337 Developmental Abnormalities of the Lungs............................................................337 Herniation of Lungs............................................................................................337 Horseshoe Lung..................................................................................................337 xxiv Absence (Agenesis, Aplasia) of Lung(s)............................................................338 Hypoplasia of Lungs............................................................................................338 Hyaline Membrane Disease (HMD) and Bronchopulmonary Dysplasia (BPD)......................................................................................................338 Interstitial Pulmonary Emphysema (IPE)............................................................339 Bronchogenic Cysts............................................................................................339 Congenital Pulmonary Airway Malformation (CPAM) or Congenital Cystic Adenomatoid Malformation..........................................................................342 Peripheral Cysts..................................................................................................342 Congenital Pulmonary Lymphangiectasis (CPL)................................................342 Vascular Abnormalities............................................................................................343 Pulmonary Arteriovenous Fistula........................................................................343 Scimitar Syndrome..............................................................................................344 Capillary Alveolar Dysplasia (Misalignment of Pulmonary Veins)....................344 Intralobar and Extralobar Sequestration..............................................................344 Primary Pulmonary Hypertension........................................................................345 Pulmonary Hemorrhage......................................................................................347 Amniotic Fluid and Meconium Aspiration Syndrome........................................347 Perinatal Pneumonia............................................................................................347 Gastric Aspiration................................................................................................348 Lipid Pneumonia..................................................................................................348 Pulmonary Emboli..............................................................................................349 Cystic Fibrosis....................................................................................................349 Surfactant Deficiency (Pulmonary Alveolar Proteinosis)....................................350 Idiopathic Pulmonary Hemosiderosis..................................................................350 Abnormalities of the Diaphragm..............................................................................350 Diaphragmatic Hernia..........................................................................................350 Eventration of Diaphragm....................................................................................352 Accessory Diaphragm..........................................................................................352 Appendix 1: Lung Weights, Left and Right, Male and Female, from 1 Day to 19 Years of Age................................................................................353 Bibliography............................................................................................................354 10 Gastrointestinal (GI) System................................................................................355 Esophagus................................................................................................................355 Malformations and Deformations........................................................................355 Diseases of the Esophagus..................................................................................355 Stomach....................................................................................................................355 Malformations and Deformations........................................................................355 Diseases of the Stomach......................................................................................356 Gastritis................................................................................................................356 Small and Large Intestine........................................................................................356 Malformations and Deformations........................................................................356 Diseases of the Small and Large Intestine..........................................................362 Gastrointestinal Infections..................................................................................366 Malabsorption and Related Disorders with Abnormalities of the Intestine......................................................................................................367 Polyps..................................................................................................................370 Diseases.......................................................... 371 Appendicitis.................................................... 371 GI Bleeding..........................................................................................................372 Bibliography...................................................... 375 XXV 11 Liver, Gallbladder, Biliary Tract, and Pancreas..................................................377 Developmental Defects of the Liver........................................................................377 Absence of the Liver............................................................................................377 Hypoplasia or Absence of the Left Lobe of the Liver........................................377 Hypoplasia or Absence of the Right Lobe of the Liver......................................377 Anomalous Lobation............................................................................................377 Cysts....................................................................................................................378 Physiologic Jaundice................................................................................................378 Hereditary Hyperbilirubinemias..........................................................................378 Idiopathic Neonatal Hepatitis (INH)....................................................................379 Intrahepatic Biliary Duct Atresia and Hypoplasia..............................................379 Alagille Syndrome (Paucity of Interlobular Bile Ducts, Arteriohepatic Dysplasia)....................................................................................379 Progressive Familial Intrahepatic Cholestasis (PFIC [Byler Disease and Byler Syndrome])......................................................380 Nonsyndromic Paucity of Intrahepatic Ducts......................................................381 Neonatal Iron Storage Disease............................................................................381 Alpha-1 -Antitrypsin (a,AT) Deficiency..............................................................381 Hemosiderosis......................................................................................................382 Acute Hepatitis....................................................................................................382 Chronic Hepatitis................................................................................................382 The Liver in Sickle Cell Disease..............................................................................382 Diffuse Toxic Necrosis............................................................................................383 Congenital Syphilis..................................................................................................383 Benign Tumors of the Liver......................................................................................383 Hemangioma........................................................................................................383 Peliosis Hepatis....................................................................................................383 Mesenchymal Hamartoma..................................................................................383 Liver Cell Adenoma............................................................................................383 Focal Nodular Hyperplasia..................................................................................384 Gallbladder..............................................................................................................384 Developmental Abnormalities of the Gallbladder..............................................384 Extrahepatic Biliary Ducts........................................................................................384 Disorders of Biliary and Hepatic Ducts..............................................................384 Extrahepatic Biliary Atresia................................................................................385 Congenital Dilatation of the Bile Ducts (Choledochal Cyst)..............................385 Congenital Hepatic Fibrosis (CHF)....................................................................385 Cystic Fibrosis....................................................................................................386 Pancreas....................................................................................................................386 Congenital Anomalies of the Pancreas................................................................386 Annular Pancreas................................................................................................386 Pancreas Divisum................................................................................................387 Cysts....................................................................................................................387 Pseudocysts..........................................................................................................387 Dermoid Cysts....................................................................................................387 Echinococcus Cysts............................................................................................387 Diseases....................................................................................................................387 Acute Pancreatitis................................................................................................387 Relapsing and Chronic Pancreatitis....................................................................387 Shwachman-Diamond Syndrome........................................................................387 Pancreas in Infant of Diabetic Mother................................................................388 xxvi Diffuse Calcification............................................................................................388 Hemochromatosis................................................................................................388 Cystic Fibrosis....................................................................................................388 Johanson-Blizzard Syndrome..............................................................................388 Hyperinsulinemic Hypoglycemia: Nesidioblastosis............................................388 Bibliography............................................................................................................388 12 Renal System..........................................................................................................391 Malformation of the Kidney and Upper Urinary Tract............................................391 Renal Agenesis....................................................................................................391 Bilateral Renal Agenesis......................................................................................391 Unilateral Renal Agenesis....................................................................................392 Renal Hypoplasia................................................................................................392 Renal Findings in Oligohydramnios Sequence....................................................392 Supernumerary Kidney........................................................................................392 Ectopic Kidney....................................................................................................392 Duplication..........................................................................................................392 Cystic Kidney Diseases............................................................................................393 Autosomal Recessive Polycystic Kidney Disease..............................................393 ARPKD Associated with Congenital Hepatic Fibrosis......................................394 Autosomal Dominant Polycystic Kidney Disease (ADPKD)..............................396 Glomerulocystic Disease (GCKD)......................................................................397 Localized Cystic Disease....................................................................................398 Renal Dysplasia........................................................................................................398 Renal Cysts Associated with Syndromes of Multiple Malformations......................400 Tuberous Sclerosis (TSC)....................................................................................401 Von Hippel-Lindau Disease................................................................................401 Meckel Syndrome................................................................................................403 Medullary Cystic Disease....................................................................................403 Medullary Sponge Kidney (MSK)......................................................................403 Familial Nephronophthisis-Medullary Cystic Disease......................................403 Multilocular Renal Cysts....................................................................................403 Transient and Minor Renal Abnormalities..............................................................404 Neonatal and Infantile Glomerular Sclerosis............................................................404 Diffuse Mesangial Sclerosis................................................................................404 Congenital Hydronephrosis......................................................................................405 Congenital Nephrotic Syndrome..............................................................................406 Lupus Nephritis....................................................................................................407 Renal Enlargement....................................................................................................407 Renal Segmental Atrophy (Segmental Hypoplasia, Ask-Upmark Kidney)..............................................................................................407 Renal Circulatory Disturbances................................................................................407 Glomerulonephritis..................................................................................................407 Postinfectious Glomerulonephritis......................................................................407 Membranoproliferative Glomerulonephritis (MPGN)........................................408 Renal Cortical and Medullary Necrosis....................................................................408 Renal Thrombosis....................................................................................................408 Abnormalities of the Bladder....................................................................................408 Duplication..........................................................................................................408 Septation..............................................................................................................408 Megacystis..................................................... 409 Urachal Anomalies..................................................................................................409 Bladder Exstrophy.................................................. 409 Urinary Tract Anomalies Associated with Imperforate Anus................. 410 xxvii Congenital Abnormalities of the Urethra................................................................410 Posterior Urethral Valves....................................................................................410 Epispadias and Hypospadias....................................................................................411 Prune-Belly Syndrome........................................................................................411 Appendix 1: Kidney Weights, Left and Right, Male and Female, From 1 Day to 19 Years of Age................................................................................413 Appendix 2: Renal and Urinary Tract Abnormalities in Genetic Disorders and Malformation Syndromes..................................................................................414 Appendix 3: Renal and Urinary Tract Abnormalities in Chromosomal Defects..........................................................................................428 Bibliography............................................................................................................431 13 Male and Female Genitourinary (GU) Systems..................................................433 Male Genitourinary System......................................................................................433 Urethra................................................................................................................433 Prostate................................................................................................................433 Seminal Vesicles..................................................................................................433 Vasa Deferentia....................................................................................................433 Testes and Epididymis........................................................................................433 Penis and Scrotum................................................................................................433 Congenital Anomalies..............................................................................................433 Urethra................................................................................................................433 Prostate................................................................................................................435 Testis....................................................................................................................435 Penis....................................................................................................................435 Scrotum................................................................................................................436 The Female Urogenital System................................................................................436 Congenital Anomalies of the Female Genitourinary Tract..................................437 Tubes and Ovaries................................................................................................437 Uterus and Vagina................................................................................................437 Intersexuality........................................................................................................438 Appendix 1: Penile Length by Conceptual Age......................................................443 Appendix 2: Development of External Genitalia......................................................443 Bibliography............................................................................................................444 14 Central Nervous System (CNS)............................................................................445 Brain Development..................................................................................................445 Abnormalities of Brain Development......................................................................445 Anencephaly........................................................................................................445 Craniorachischisis................................................................................................445 Myeloschisis........................................................................................................445 Encephalocele......................................................................................................445 Arnold-Chiari Malformation..............................................................................446 Other Spinal Cord Abnormalities............................................................................446 Holoprosencephalies............................................................................................447 Aprosencephaly (Atelencephaly)........................................................................450 Abnormalities of Midline Structures........................................................................451 Agenesis of Corpus Callosum (ACC)..................................................................451 Agenesis of Septum Pellucidum (SP)......................................................................453 Brain Stem Abnormalities........................................................................................455 Abnormalities of Aqueduct of Sylvius....................................................................455 Isolated Stenosis of the Aqueduct of Sylvius......................................................455 Dysplasia of the Aqueduct of Sylvius..................................................................455 Occlusion of Aqueduct........................................................................................455 xxviii Malformations of Cerebellum..................................................................................455 Agenesis..............................................................................................................455 Hypoplasia..........................................................................................................456 Anomalies of the Vermis of the Cerebellum............................................................456 Dandy-Walker Malformation..............................................................................456 Arachnoid Cysts........................................................................................................456 Choroid Plexus Cysts................................................................................................457 Subependymal Pseudocysts......................................................................................457 Intracranial Vascular Malformations........................................................................457 Telangiectasias....................................................................................................457 Sturge-Weber Disease........................................................................................458 Von Hippel-Lindau Disease................................................................................458 Congenital Hydrocephalus........................................................................................458 Ventriculomegaly......................................................................................................459 Defects of Neuronal Migration................................................................................460 Heterotopia and Ectopia......................................................................................460 Polymicrogyria....................................................................................................460 Agyria/Pachygyria/Lissencephaly............................................................................460 Type I Lissencephaly..........................................................................................461 Type II Lissencephaly..........................................................................................461 Type III Lissencephaly........................................................................................461 Microcephaly............................................................................................................461 Primary Constitutional Microcephaly..................................................................461 Secondary Acquired Microcephaly......................................................................462 Isolated Microcephaly..........................................................................................462 Microgyria and Ulegyria..........................................................................................462 Hydranencephaly, Porencephaly, and Multicystic Encephalomalacia......................462 Hydrolethalus............................................................................................................462 Schizencephaly........................................................................................................462 Iniencephaly..............................................................................................................462 Subarachnoid Hemorrhage......................................................................................462 Subdural Hemorrhage..............................................................................................462 Periventricular Leukomalacia..................................................................................463 Germinal Matrix/Intraventricular Hemorrhage........................................................463 Galeal Hemorrhage..................................................................................................463 Cephalhematoma......................................................................................................463 Extradural (Epidural) Hemorrhage..........................................................................464 Meningitis................................................................................................................464 Bacterial Meningoencephalitis............................................................................466 Fungal Meningoencephalitis................................................................................466 Toxoplasma..........................................................................................................466 Syphilis................................................................................................................467 Viral Infection......................................................................................................469 Craniosynostosis......................................................................................................469 Appendix 1: Defects of Closure of the Neural Tube................................................470 Bibliography............................................................................................................471 15 Thymus, Spleen, Lymph Nodes, and Immunodeficiency....................................473 Lymph Nodes............................................................................................................473 Accessory Spleen......................................................................................................473 Spleen......................................................................................................................473 Asplenia..............................................................................................................473 Polysplenia..................................................... 474 Cysts.......................................................... 474 xxix Thymus.......................................................... 474 Anatomy and Histology........................................... 475 Thymic Lesions ................................................. 475 Thymus in Acquired Immunodeficiency Syndrome...................... 476 Thymic Hyperplasia............................................................................................476 Lymphoid Depletion............................................................................................476 Selected Immunodeficiencies Presenting in Child Hood Predominantly Antibody Immunodeficiencies........................................................476 X-Linked Agammaglobulinemia (XLA)............................................................476 Common Variable Immunodeficiency (CVID)....................................................476 Severe Combined Immunodeficiency (SCID)....................................................476 Wiskott-Aldrich Syndrome (WAS)....................................................................478 Ataxia-Telangiectasia (AT) and Nijmegen Breakage Syndrome........................478 DiGeorge Syndrome and Chromosome 22ql 1.2 Deletion Syndrome..............................................................................................478 Chronic Mucocutaneous Candidiasis..................................................................478 Appendix 1: Spleen Weights, Male and Female, from 1 Day to 19 Year of Age..................................................................................484 Bibliography............................................................................................................484 16 Hematopoietic System............................................................................................485 Leukemia..................................................................................................................485 Classification of Leukemia..................................................................................485 Lymphomas in Childhood........................................................................................488 Hodgkin Lymphomas..........................................................................................489 Nodular Sclerosing Hodgkin Lymphoma............................................................490 Mixed Cellularity Classic Hodgkin Lymphoma (CHL)......................................490 Lymphocyte-Rich CHL........................................................................................490 Lymphocyte-Depleted CHD................................................................................490 Nodular Lymphocyte-Predominant Hodgkin Lymphoma..................................490 Diffuse Large-Cell Lymphoma (DLCL) ............................................................491 Burkitt Lymphoma..............................................................................................493 Anaplastic Large-Cell Lymphoma (ALCL)........................................................495 Langerhans Cell Histiocytosis (LCH)......................................................................496 Post-transplant Lymphoproliferative Disorder........................................................497 Bibliography............................................................................................................497 17 Pediatric Ttomors....................................................................................................499 Wilms Tumor/Nephroblastoma..............................................................................499 Immunostaining of Wilms Tumor......................................................................499 Staging System of Wilms Tumor: Children s Oncology Group (COG)............499 Nephrogenic Rests..............................................................................................500 Clear Cell Sarcoma of the Kidney (CCSK)........................................................500 Rhabdoid Tumor..................................................................................................501 Neuroblastoma....................................................................................................502 Rhabdomyosarcoma............................................................................................502 Embryonal Rhabdomyosarcoma..........................................................................502 Alveolar Rhabdomyosarcoma..............................................................................503 Desmoplastic Small Round Cell Tumor..............................................................504 Primitive Neuroectodermal Tumor (PNET)/Ewing Sarcoma..............................504 Polyphenotypic Tumor........................................................................................504 Angiosarcoma of the Liver..................................................................................504 Hepatoblastoma....................................................................................................507 Hepatocellular Carcinoma..................................................................................508 XXX Germ Cell Tumors....................................................................................................508 Teratomas............................................................................................................508 Yolk Sac Tumor..................................................................................................508 Embryonal Carcinoma........................................................................................508 Choriocarcinoma..................................................................................................510 Central Nervous System Tumors..............................................................................510 Astrocytic Tumors................................................................................................510 Glioblastoma........................................................................................................512 Giant Cell Glioblastoma (WHO Grade IV)........................................................513 Pleomorphic Xanthoastrocytoma........................................................................513 Oligodendroglioma..............................................................................................513 Ependymoma......................................................................................................514 Myxopapillary Ependymoma..............................................................................514 Dysembryoplastic Neuroepithelial Tumor..........................................................515 Atypical Teratoid/Rhabdoid Tumor....................................................................516 Medulloblastoma (PNET) ..................................................................................516 Craniopharyngioma..............................................................................................517 Meningeal Tumors....................................................................................................518 Meningioma........................................................................................................518 Bibliography............................................................................................................520 18 Skeletal System........................................................................................................521 Sampling and Handling of Bone in Autopsies of Skeletal Dysplasias....................521 Decalcification Procedures......................................................................................522 Preparation of Undecalcified Sections and Microradiography............................522 Reduction Defects................................................................................................522 Fetal Akinesia-Hypokinesia Sequence and Congenital Arthrogryposis..............523 Nomenclature............................................................................................................523 Type II Collagenopathies..........................................................................................524 Short-Rib Dysplasia with or without Polydactyly....................................................525 Short-Trunk Chondrodysplasias..............................................................................525 Type IB Achondrogenesis (Fraccaro)......................................................................525 Achondrogenesis Type II (Langer-Saldino)............................................................525 Hypochondrogenesis (Achondrogenesis Type III)..................................................525 Spondyloepiphyseal Dysplasia Congenita................................................................525 Kniest Dysplasia......................................................................................................526 Dyssegmental Dysplasia..........................................................................................526 Atelosteogenesis......................................................................................................529 Type I Atelosteogenesis......................................................................................529 Type II Atelosteogenesis......................................................................................529 Fibrochondrogenesis................................................................................................529 Short-Rib-Polydactyly Syndromes..........................................................................531 Type I Asphyxiating Thoracic Dystrophy (ATD)................................................532 Type II ATD........................................................................................................532 SRPS Type I (Saldino-Noonan)..............................................................................534 SRPS Type II (Majewski)........................................................................................534 SRPS Type III (Verma-Naumoff)............................................................................534 SRPS Type IV..........................................................................................................535 Unclassified Types of SRPS....................................................................................535 Chondrodysplasias with Significant Platyspondyly..................................................535 Thanatophoric Dysplasia (TD)............................................................................535 TD with Cloverleaf Skull....................................................................................538 Achondroplasia........................................................................................................538 Heterozygous Achondroplasia............................................................................538 xxxi Homozygous Achondroplasia..............................................................................539 Metatropic Dysplasia..........................................................................................539 Opsismodysplasia................................................................................................541 Schneckenbecken (Snail Pelvis) Dysplasia..........................................................542 Miscellaneous Osteochondrodysplasias..................................................................544 Chondrodysplasia Punctata..................................................................................544 Conradi-Hunermann Type..................................................................................544 Rhizomelic Type..................................................................................................544 Campomelic Syndrome........................................................................................546 Kyphomelic Dysplasia........................................................................................546 Diastrophic Dysplasia..........................................................................................547 Larsen Syndrome................................................................................................547 Osteogenesis Imperfecta (01)..............................................................................547 Hypophosphatasia (Congenital Lethal Type)......................................................549 Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome)..................................549 Atelosteogenesis-Omodysplasia and Diastrophic Dysplasia..............................550 Boomerang Dysplasia..........................................................................................550 Appendix 1: Appearance of Ossification Centers from 1 to 40 Weeks....................551 Bibliography............................................................................................................552 19 Skin..........................................................................................................................553 Nail Development....................................................................................................553 Sebaceous Gland......................................................................................................553 Sweat Gland Development......................................................................................553 Vesicular Lesions in the Fetus and Newborn............................................................553 Epidermolysis Bullosa..............................................................................................553 Chronic Bullous Disease of Childhood (CBDC) (Linear IgA Dermatosis)............554 Staphylococcal Scalded Skin Syndrome (Ritter Disease)........................................555 Toxic Epidermal Necrolysis (Lyell Type)................................................................555 Incontinentia Pigmenti..............................................................................................555 Acrodermatitis Enteropathica..................................................................................555 Ichthyosis..................................................................................................................557 Trichothiodystrophy..................................................................................................558 Vesiculopustular Eruptions in the Newborn............................................................558 Erythema Toxicum Neonatorum (ETN)..............................................................558 Neonatal Pustular Melanosis (NPM)..................................................................558 Acropustulosis of Infancy....................................................................................558 Infectious Eruptions..................................................................................................558 Impetigo..............................................................................................................558 Candida Infection................................................................................................558 Syphilis................................................................................................................559 Herpes Simplex....................................................................................................559 Varicella Zoster....................................................................................................559 Subcutaneous Fat Necrosis (SFN)......................................................................559 Sclerema Neonatorum..........................................................................................559 Scleredema..........................................................................................................560 Restrictive Dermopathy......................................................................................562 Malformation of the Skin and Its Appendages........................................................562 Sebaceous Nevus of Jadassohn............................................................................562 Linear Sebaceous Nevus Syndrome....................................................................562 Congenital Cutaneous Dystrophy (Rothmund-Thomson Syndrome, Poikiloderma Congenitale)..................................................................................562 Focal Dermal Hypoplasia (Goltz Syndrome)......................................................563 Melanocytic Lesions............................................................................................563 xxxii Blue Nevus..........................................................................................................563 Leopard (Multiple Lentigines) Syndrome..........................................................563 Urticaria Pigmentosa............................................................................................564 Xeroderma Pigmentosum........................................................................................564 Ectodermal Dysplasia..........................................................................................564 Multiple Pterygia (Fetal Akinesia)......................................................................564 Langerhans Cell Histiocytosis............................................................................565 Bibliography............................................................................................................567 20 Infections................................................................................................................569 Bacterial Infections..................................................................................................569 TORCH Infections....................................................................................................570 Toxoplasmosis......................................................................................................571 Viral Infections........................................................................................................571 Rubella Infection..................................................................................................571 Herpes Infection..................................................................................................572 Cytomegalovirus Infection (CMV)......................................................................573 Herpes Simplex Virus Type 2..............................................................................573 Varicella Zoster....................................................................................................574 Epstein-Barr Virus..............................................................................................575 Influenza Virus....................................................................................................575 Enteroviruses........................................................................................................575 Hepatitis Viruses..................................................................................................576 Parvovirus............................................................................................................577 Adenovirus..........................................................................................................577 Human Immunodeficiency Virus........................................................................577 Chagas Disease (South American Trypanosomiasis)..........................................577 Malaria................................................................................................................578 Q Fever................................................................................................................579 Borreliosis (Lyme Disease)..................................................................................579 Campylobacter (Vibrio) Fetus Infection..............................................................579 Fungal Infections................................................................................................579 Bibliography............................................................................................................580 21 Transplantation......................................................................................................581 Hyperacute Allograft Rejection................................................................................581 Acute Allograft Rejection........................................................................................581 Chronic Allograft Rejection....................................................................................581 Signs of Rejection....................................................................................................581 Transplant Pathology of the Heart............................................................................581 Acute Cellular Rejection......................................................................................581 Antibody-Mediated Rejection (AMR)................................................................582 Chronic Rejection (Cardiac Allograft Vasculopathy) ........................................582 Infection..............................................................................................................582 The Quilty Lesion................................................................................................582 Calcifications........................................................................................................582 Fibrosis................................................................................................................582 Transplant Pathology of the Kidney........................................................................582 Hyperacute and Accelerated Acute Rejection....................................................583 Acute Rejection....................................................................................................584 Chronic Allograft Nephropathy (CAN)..............................................................586 Vascular Thrombosis............................................................................................586 Recurrent Disease................................................................................................587 Immunosuppressive Drug Toxicity......................................................................587 xxxiii Polyomavirus Type BK (BKV) Infection............................................................587 Posttransplant Lymphoproliferative Disorders....................................................587 Transplant Pathology of the Liver............................................................................587 Preservation Injury..............................................................................................588 Hepatic Artery Thrombosis (HAT)......................................................................588 Biliary Complications..........................................................................................588 Hyperacute (Humoral) Rejection........................................................................588 Acute Rejection....................................................................................................588 Chronic Rejection................................................................................................588 Liver in Bone Marrow Transplantation................................................................589 Transplant Pathology of the Lung............................................................................589 Hyperacute Rejection..........................................................................................589 Acute Rejection....................................................................................................589 Chronic Rejection................................................................................................589 Transplant Pathology of the Intestines......................................................................589 Preservation Injury and Hyperacute Rejection....................................................589 Acute Rejection....................................................................................................589 Chronic Rejection................................................................................................590 Complications of Transplantation........................................................................590 The Gastrointestinal Tract in Graft-Versus-Host Disease....................................590 Transplant Pathology of the Pancreas......................................................................590 Histopathology of Acute and Chronic Rejection................................................590 Bibliography............................................................................................................591 22 Eye and Adnexa......................................................................................................593 Methods for Removal and Sectioning......................................................................593 Vitreous Sampling................................................................................................593 Removal of the Eye and Orbital Contents..........................................................593 Eyes for Transplantation......................................................................................594 Removal of the Lacrimal Gland..........................................................................594 Processing of the Ocular Specimens........................................................................594 Fixation, Orientation, Documentation of Lesions, and Sectioning......................594 Major Anomalies of the Eye....................................................................................595 Microphthalmos..................................................................................................595 Cyclopia and Synophthalmos..............................................................................595 Structural Abnormalities......................................................................................595 Epicanthus............................................................................................................596 Ptosis....................................................................................................................596 Retinopathy of Prematurity..................................................................................597 Infections of the Eye............................................................................................597 Retinoblastoma....................................................................................................597 Metabolic Diseases..............................................................................................597 Bibliography............................................................................................................603 23 Metabolic Diseases..................................................................................................605 Carbohydrate Disorders............................................................................................605 Galactosemia........................................................................................................605 Disorders of Fructose Metabolism......................................................................605 Glycogen Storage Diseases (Glycogenoses)........................................................605 Mucopolysaccharidosis............................................................................................609 Hurler Syndrome..................................................................................................613 Fucosidosis..........................................................................................................614 Mannosidoses......................................................................................................614 Geleophysic Dysplasia........................................................................................616 xxxiv Lysosomal Storage Diseases....................................................................................616 Abnormal Serum Lipids or Lipoproteins............................................................616 Lysosomal Transport Disorders................................................................................616 Sialic Acid Disorders (Sialidoses)......................................................................616 Lipidosis..................................................................................................................617 Cholesterol Esters/Triglyceride Storage..............................................................617 Farber Disease......................................................................................................617 Gaucher Disease..................................................................................................617 Krabbe Disease....................................................................................................617 Fabry Disease......................................................................................................618 Sphingomyelin Storage Disease..............................................................................618 Niemann-Pick Disease........................................................................................618 Sulfatide Lipidoses..................................................................................................619 Metachromatic Leukodystrophy..........................................................................619 Multiple Sulfatase Deficiency (Austin Disease)..................................................619 The Gangliosidoses..................................................................................................619 GM^Gangliosidosis............................................................................................619 GM2-Gangliosidosis, Type 1 (Tay-Sachs Disease)..............................................619 GM2-Gangliosidosis, Type 2 (Sandhoff Disease)................................................620 Galactosialidosis..................................................................................................620 Other Neural Lipidoses............................................................................................621 Mucolipidoses......................................................................................................621 Mucolipidosis II (I-Cell Disease)........................................................................621 Amino Acid Disorders..............................................................................................622 Phenylketonuria..................................................................................................622 Hereditary Tyrosinemia........................................................................................622 Pathology............................................................................................................622 Alkaptonuria........................................................................................................622 Homocystinuria....................................................................................................623 Lesch-Nyhan Syndrome (L-NS)........................................................................624 Organic Acidemias..................................................................................................624 Maple Sugar Urine Disease................................................................................624 Methylmalonic Acidemia....................................................................................625 Propionic Acidemia (Ketotic Hyperglycinemia)................................................625 Isovaleric Acidemia (IVA)..................................................................................625 Nonketotic Hyperglycinemia..............................................................................625 Pyruvate Dehydrogenase Deficiency..................................................................625 Fatty Acid )3-Oxidation Defects................................................................................626 Carnitine Deficiency............................................................................................626 Smith-Lemli-Opitz Syndrome (SLOS)..............................................................626 Urea Cycle Defects..................................................................................................628 Ornithine Transcarbamylase Deficiency..............................................................628 Carbamyl Phosphate Synthetase Deficiency........................................................629 Citrullinemia........................................................................................................629 Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome (HHH Syndrome)................................................629 Argininosuccinicaciduria....................................................................................630 Argininemia........................................................................................................630 Peroxisomal Disorders..............................................................................................630 X-Linked Adrenoleukodystrophy............................................................................630 Zellweger Syndrome............................................................................................631 Neonatal Adrenoleukodystrophy (NALD)..........................................................632 Hyperpipecolic Acidemia....................................................................................632 Hyperoxaluria Type I..........................................................................................632 XXXV Mitochondrial Disorders..........................................................................................633 Pathology............................................................................................................633 Electron Microscopy............................................................................................634 Subacute Necrotizing Encephalomyelopathy (SNE)..........................................634 Disorders of Metal Metabolism................................................................................635 Neonatal Iron Storage Disease............................................................................635 Wilson Disease....................................................................................................635 Pathology............................................................................................................635 Menkes Syndrome..............................................................................................636 Other Metabolic Disorders......................................................................................636 Neuronal Ceroid Lipofuscinosis (NCL) (Batten Disease)..................................636 Pathology............................................................................................................636 a,-Antitrypsin ( x,-Antiprotease) Deficiency......................................................637 Defects in Renal Transport Mechanisms..................................................................638 Cystinosis............................................................................................................638 Autopsy on Metabolic Case......................................................................................638 Appendix 23.1: The Metabolic Disease Autopsy....................................................640 Fluid Samples......................................................................................................640 Tissue Samples....................................................................................................640 Appendix 23.2: Handling Tissues for Molecular Diagnosis....................................641 Appendix 23.3: Tissues Used for Diagnosis of Metabolic Disorders......................641 Appendix 23.4: Biochemical Tests for Metabolic Disorders....................................642 Appendix 23.5: Metabolic Laboratories..................................................................642 Bibliography............................................................................................................649 Part V Special Considerations 24 Sudden Infant Death..............................................................................................653 Definition..................................................................................................................653 Category I SIDS..................................................................................................653 Category II SIDS..................................................................................................653 Category III SIDS................................................................................................653 Environmental Versus Genetic Disorders................................................................654 The Sudden Infant Death Autopsy............................................................................654 Routine Autopsy Protocol....................................................................................654 Metabolic Studies....................................................................................................655 Bed-Related Deaths and the Prone Sleeping Position..............................................656 Risk Factors Versus Prediction................................................................................657 Gross and Microscopic Autopsy Findings................................................................657 Central Nervous System in SIDS..............................................................................657 Hypoxemia: The Final Common Pathway................................................................658 Explained Sudden Infant Death................................................................................659 Myocarditis..........................................................................................................659 Congenital Aortic Stenosis..................................................................................659 Endocardial Sclerosis..........................................................................................659 Anomalous Origin of the Left Coronary Artery..................................................660 Primary Hypertrophic Cardiomyopathy..............................................................660 Tuberous Sclerosis with Cardiac Rhabdomyomas..............................................661 Cardiac Arrhythmias............................................................................................661 Other Cardiac Arrhythmias That May Result in Sudden Infant Death................662 Respiratory Causes..............................................................................................663 Metabolic Disorders and SIDS: Medium-Chain Acyl-CoA Dehydrogenase Deficiency..................................................................................663 Apnea Monitors..................................................................................................664 xxxvi Dehydration Secondary to Diarrhea with Fluid and Electrolyte Imbalance....................................................................................664 Fluid and Electrolyte Imbalance in Cystic Fibrosis............................................666 Adrenal Insufficiency..........................................................................................666 Upper Airway Obstruction..................................................................................666 Post-autopsy Conference with Parents................................................................666 Appendix 1: International Standardized Autopsy Protocol for Sudden Unexpected Infant Death........................................................................667 Bibliography............................................................................................................671 25 Forensic Pathology..................................................................................................675 The Postmortem Examination..................................................................................675 The Forensic Autopsy Protocol................................................................................679 Identification of the Body........................................................................................679 Postmortem Changes................................................................................................679 Algor Mortis........................................................................................................679 Livor Mortis........................................................................................................679 Rigor Mortis........................................................................................................680 Postmortem Interval..................................................................................................680 Autopsy Toxicology..................................................................................................680 Cerebrospinal Fluid..............................................................................................680 Vitreous Humor....................................................................................................681 Blood....................................................................................................................681 Bile......................................................................................................................681 Gastrointestinal Tract..........................................................................................681 Hair......................................................................................................................681 Skin......................................................................................................................681 Urine....................................................................................................................681 Postmortem Decomposition......................................................................................681 Examination of a Decomposed Body......................................................................682 X-Ray Examination............................................................................................682 Degree and Type of Decomposition....................................................................682 Animal Damage..................................................................................................682 Scars....................................................................................................................683 Tattoos..................................................................................................................683 Color....................................................................................................................683 Swabs..................................................................................................................683 Head....................................................................................................................683 Brain....................................................................................................................683 Neck....................................................................................................................683 Trunk....................................................................................................................683 Microscopy..........................................................................................................683 Toxicology..........................................................................................................683 Dental Examination............................................................................................684 Postmortem Chemistries..........................................................................................684 Glucose................................................................................................................684 Lactic Acid..........................................................................................................684 Nitrogen..............................................................................................................684 Electrolytes..........................................................................................................684 Protein..................................................................................................................684 Enzymes..............................................................................................................685 Hormones............................................................................................................685 xxx vii Poisoning and Toxicology........................................................................................685 Injuries......................................................................................................................685 Motor Vehicle Injuries........................................................................................685 Falls......................................................................................................................685 Examination of the Skin..........................................................................................685 Abrasions............................................................................................................686 Bruises (Contusions)............................................................................................686 Lacerations..........................................................................................................687 Incisions..............................................................................................................687 Stab Wounds........................................................................................................687 Other Skin Wounds..............................................................................................687 Vital Reaction and Timing of Injury........................................................................687 Skeletal Injuries........................................................................................................687 Asphyxia..................................................................................................................688 Deliberate Suffocation..............................................................................................689 Burns........................................................................................................................689 Hypothermia............................................................................................................692 Hyperthermia............................................................................................................692 Drowning..................................................................................................................692 Alcohol Intoxication................................................................................................692 Narcotics..................................................................................................................693 Child Abuse..............................................................................................................693 Definitions............................................................................................................693 Cutaneous Trauma..............................................................................................693 Facial Injuries......................................................................................................693 Eye Injuries..........................................................................................................694 Skeletal Injuries..................................................................................................695 Visceral Trauma..................................................................................................696 Head Injuries........................................................................................................697 Shaken Baby (Whiplash Shaken Infant)..............................................................698 Munchausen Syndrome by Proxy........................................................................699 Starvation............................................................................................................700 Neglect and Failure to Thrive..............................................................................700 Dehydration..........................................................................................................700 Subtle Forms of Abuse........................................................................................700 Determination of Live Birth, Stillbirth, and Gestational Age..................................701 Was Death due to Perinatal Accident or Deliberate?..........................................701 Infanticide............................................................................................................701 Sexual Abuse........................................................................................................701 Reporting Child Abuse............................................................................................702 Appendix 1: Special Studies....................................................................................702 Appendix 2: Agents Commonly Used in Non-accidental Poisonings......................703 Bibliography............................................................................................................703 26 Special Procedures..................................................................................................707 Electron Microscopy................................................................................................707 Virus Identification..............................................................................................707 Electron Microscopic Fixation............................................................................707 Specimen Preparation..........................................................................................708 Molecular Techniques..............................................................................................709 Applications........................................................................................................709 Cytogenetics............................................................................................................709 Applications........................................................................................................709 xxxviii FISH..........................................................................................................................VI1 Limitations of FISH............................................................................................711 Polymerase Chain Reaction (PCR)..........................................................................711 Gene Chips or Microarrays (Gene Expression Arrays)............................................712 Basis of the Methodology....................................................................................712 Applications........................................................................................................712 Limitations..........................................................................................................712 The Human Genome Project....................................................................................712 Metabolic Inborn Errors That Should Be Examined in Unexpected Infant Death......................................................................................712 Procedure at Autopsy................................................................................................713 Fluid Samples......................................................................................................713 Tissue Samples....................................................................................................713 General................................................................................................................714 Microbiology........................................................................................................714 X-Ray Analysis....................................................................................................716 Electron Diffraction............................................................................................716 Cytochemistry......................................................................................................716 Cytogenetics........................................................................................................716 Chromosome Analysis by Mail..........................................................................717 Techniques of Postmortem Chromosome Analysis..................................................717 Peripheral Blood Lymphocyte Cultures..............................................................717 Lymphocytes from the Thymus and Spleen........................................................718 Fibroblast Cultures..............................................................................................718 Chemistry............................................................................................................719 Interpretation of Postmortem Chemical Data......................................................719 Organ Transplantation..............................................................................................720 Bibliography............................................................................................................721 27 Infection Control and Biological Hazards............................................................723 HIV Infection............................................................................................................723 HIV and Hepatitis B................................................................................................723 Precautions................................................................................................................724 Disinfection, Decontamination, and Disposal..........................................................724 Bibliography............................................................................................................727 Index................................................................................................................................729
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author	Gilbert-Barness, Enid Spicer, Diane E. Steffensen, Thora S.
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edition	2. ed.
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illustrated	Illustrated
indexdate	2024-07-10T00:57:50Z
institution	BVB
isbn	9781461467106
language	English
oai_aleph_id	oai:aleph.bib-bvb.de:BVB01-026929563
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physical	XXXVIII, 749 S. zahlr. Ill.
publishDate	2014
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publisher	Springer
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spelling	Gilbert-Barness, Enid Verfasser aut Handbook of pediatric autopsy pathology Enid Gilbert-Barness ; Diane E. Spicer ; Thora S. Steffensen 2. ed. New York [u.a.] Springer 2014 XXXVIII, 749 S. zahlr. Ill. txt rdacontent n rdamedia nc rdacarrier Kind (DE-588)4030550-8 gnd rswk-swf Obduktion (DE-588)4128945-6 gnd rswk-swf Pathologie (DE-588)4044893-9 gnd rswk-swf Kind (DE-588)4030550-8 s Obduktion (DE-588)4128945-6 s Pathologie (DE-588)4044893-9 s 1\p DE-604 Spicer, Diane E. Verfasser aut Steffensen, Thora S. Verfasser aut HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026929563&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk
spellingShingle	Gilbert-Barness, Enid Spicer, Diane E. Steffensen, Thora S. Handbook of pediatric autopsy pathology Kind (DE-588)4030550-8 gnd Obduktion (DE-588)4128945-6 gnd Pathologie (DE-588)4044893-9 gnd
subject_GND	(DE-588)4030550-8 (DE-588)4128945-6 (DE-588)4044893-9
title	Handbook of pediatric autopsy pathology
title_auth	Handbook of pediatric autopsy pathology
title_exact_search	Handbook of pediatric autopsy pathology
title_full	Handbook of pediatric autopsy pathology Enid Gilbert-Barness ; Diane E. Spicer ; Thora S. Steffensen
title_fullStr	Handbook of pediatric autopsy pathology Enid Gilbert-Barness ; Diane E. Spicer ; Thora S. Steffensen
title_full_unstemmed	Handbook of pediatric autopsy pathology Enid Gilbert-Barness ; Diane E. Spicer ; Thora S. Steffensen
title_short	Handbook of pediatric autopsy pathology
title_sort	handbook of pediatric autopsy pathology
topic	Kind (DE-588)4030550-8 gnd Obduktion (DE-588)4128945-6 gnd Pathologie (DE-588)4044893-9 gnd
topic_facet	Kind Obduktion Pathologie
url	http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026929563&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
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