Perinatal Neuropathology 1st Edition by Mirna Lechpammer, ISBN-13: 978-1107159792

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Perinatal Neuropathology 1st Edition by Mirna Lechpammer, ISBN-13: 978-1107159792

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• Publisher: ‎ Cambridge University Press; 1st edition (September 16, 2021)
• Language: ‎ English
• 458 pages
• ISBN-10: ‎ 1107159792
• ISBN-13: ‎ 978-1107159792

There is an increasing demand for high-standard fetal and infant neuropathology examinations. Novel imaging techniques, development of new diagnostic methods and advances in genetics have stimulated the interest in gaining additional knowledge on developmental, perinatal and neonatal neuropathology. Approaching the subject from a practical standpoint, diagnostic templates for reports are provided in this essential guide to aid clinicians with different areas of expertise. Each chapter will includes numerous high-quality images, accompanied by explanatory legends from the authors’ own experiences. Covering autopsy and tissue processing techniques, the authors discuss a range of disorders such as neural tube defects, brain tumours, storage disorders and many others. Compiling the latest advances in fetal and infant diagnostics and care, this book is a highly valuable educational resource.

Table of Contents:

Preface ix

Acknowledgments x

List of Abbreviations xi

Section 1 Techniques and Practical

Considerations

Approach to Autopsy of the Perinatal Nervous

System 1

1 Clinical Considerations 1

Rebecca Folkerth

2 Imaging 3

Rebecca Folkerth

3 External Exam of the Fetus/Infant 5

Rebecca Folkerth

4 Autopsy and Research Consent 8

Marc Del Bigio

Ancillary Studies 13

5 Microbiology 13

Mirna Lechpammer

6 Cytogenetics and Molecular Diagnostics 25

Mirna Lechpammer

7 Metabolic Studies 31

Mirna Lechpammer

8 Toxicology 39

Mirna Lechpammer

Prosection Techniques 45

9 Brain Prosection 45

Marc Del Bigio

10 Spinal Cord Prosection 50

Rebecca Folkerth

11 Neuromuscular Specimens 53

Mirna Lechpammer

12 Eye Specimens 56

Mirna Lechpammer

Tissue Selection 59

13 Selection of Brain Areas for Microscopic

Examination 59

Mirna Lechpammer and Rebecca Folkerth

14 Technical Considerations in Perinatal CNS Tissue

Processing 62

Mirna Lechpammer

15 Staining Techniques 65

Marc Del Bigio

Reporting 71

16 Formulation of Diagnosis 71

Rebecca Folkerth

17 Reporting Templates 73

Mirna Lechpammer

18 Medicolegal Considerations 79

Rebecca Folkerth

Section 2 Human Nervous System Development

Neuroanatomic Site Development 81

19 Human Nervous System Development: Embryonic

and Early Fetal Events 81

Marc Del Bigio

20 Cerebral Cortex, Including Germinal Matrix 88

Marc Del Bigio

21 White Matter, Including Myelination 101

Rebecca Folkerth

22 Cerebellum: Development of the Rhombic Lip,

Cerebellar Cortex, Dentate Nucleus 107

Rebecca Folkerth

23 Spinal Cord 111

Mirna Lechpammer

24 Skeletal Muscle and Peripheral Nerve 115

Mirna Lechpammer

25 Fetal and Infant Eye 119

Mirna Lechpammer

Growth Parameters 123

26 Head Size and Brain Weight 123

Marc Del Bigio

Section 3 Stillbirth

Autolysis, Artifacts, and Stillbirths 131

27 Autolysis and Artifacts 131

Marc Del Bigio

Stillbirths 139

28 Neuropathology of Stillbirth 139

Marc Del Bigio and Rebecca Folkerth

Section 4 Disruptions / Hypoxic-Ischemic Injury

Cellular Responses 145

29 Neuronal Death 145

Marc Del Bigio

30 Macroglial Reactions 155

Marc Del Bigio

31 Inflammatory Responses 159

Marc Del Bigio

Gray Matter 165

32 Supratentorial Gray Matter Damage and

Disruptions 165

Marc Del Bigio

33 Brainstem and Spinal Cord Disruptions 178

Rebecca Folkerth

White Matter 183

34 Periventricular Leukomalacia and Diffuse White

Matter Injury 183

Rebecca Folkerth

Germinal Matrix 193

35 Periventricular and Intraventricular Brain

Hemorrhage 193

Marc Del Bigio

Cerebellum 205

36 Cerebellar Lesions 205

Rebecca Folkerth

Section 5 Malformations

Neural Tube Defects and Patterning

Defects 211

37 Defects of Neural Tube Closure and Axial

Mesodermal Defects 211

Marc Del Bigio

38 Disorders of Early Midline Patterning 223

Marc Del Bigio

Hydrocephalus 231

39 Fetal and Perinatal Hydrocephalus 231

Marc Del Bigio

Neuronal Migration Disorders 243

40 Cerebral Cortical Migration Disorders 243

Rebecca Folkerth

Genetic Syndromes and

Phakomatoses 255

41 Fragile X Syndrome 255

Mirna Lechpammer

42 Down Syndrome – Trisomy 21 260

Mirna Lechpammer

43 Edwards Syndrome – Trisomy 18 265

Mirna Lechpammer

44 Patau Syndrome – Trisomy 13 269

Mirna Lechpammer

45 Tuberous Sclerosis Complex 273

Mirna Lechpammer

46 Sturge-Weber Syndrome 278

Mirna Lechpammer

47 Neurocutaneous Melanosis 281

Mirna Lechpammer

Section 6 Perinatal Neurooncology

48 Congenital and Perinatal Brain

Tumors 285

Sanda Alexandrescu

Section 7 Spinal and Neuromuscular Disorders

Arthrogryposis 301

49 Arthrogryposis Multiplex Congenita 301

Mirna Lechpammer

Spinal Muscular Atrophy 305

50 Spinal Muscular Atrophy (SMA) 305

Rebecca Folkerth and Steven A. Moore

Early-Onset Hereditary Neuropathies 309

51 Charcot-Marie-Tooth (CMT) Neuropathies 309

Mirna Lechpammer and Steven A. Moore

Congenital Muscle Disorders 313

52 Congenital Myasthenic Syndromes 313

Rebecca Folkerth and Steven A. Moore

53 Congenital Muscular Dystrophies 317

Rebecca Folkerth and Steven A. Moore

54 Congenital Myopathies 324

Rebecca Folkerth and Steven A. Moore

55 Other Congenital Muscle Disorders 329

Rebecca Folkerth

Section 8 Eye Disorders

56 Congenital Eye Malformations and

Deformations 333

Mirna Lechpammer

Section 9 Infections

In Utero Infections 339

57 Congenital Viral, Bacterial, and Parasitic

Infections 339

Marc Del Bigio

Peri- and Postnatal Infections 359

58 Meningitis and Encephalitis 359

Rebecca Folkerth

Section 10 Metabolic / Toxic Disorders

Storage Diseases 365

59 Lysosomal Disorders 365

Mirna Lechpammer

60 Peroxisomal Disorders 378

Mirna Lechpammer

Kernicterus 385

61 Clinicopathological Features of Kernicterus 385

Mirna Lechpammer

Mitochondrial Diseases 391

62 Clinicopathological Features of Mitochondrial

Diseases 391

Mirna Lechpammer

Maternal Toxin Exposure 403

63 Ethanol and Other Agents 403

Marc Del Bigio

Section 11 Forensic Neuropathology

Trauma 411

64 Birth Trauma 411

Marc Del Bigio

65 Accidental and Nonaccidental Death 421

Rebecca Folkerth

Sudden Unexpected Death 431

66 Sudden Unexpected Death in Infancy and

Childhood 431

Rebecca Folkerth

Appendix 1 Technical Considerations in Perinatal

CNS 437

Index 438

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