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

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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