Perinatal Neuropathology

Part I. Techniques and Practical Considerations: Approach to autopsy of perinatal nervous system:
1. Clinical considerations
2. Imaging
3. External exam of fetus/infant
4. Autopsy and research consent
Ancillary studies:
5. Microbiology
6. Cytogenetics
7. Metabolic studies
8. Toxicology
Prosection techniques:
9. Brain
10. Spinal cord
11. Neuromuscular specimens
12. Eye specimens
Tissue selection:
13. Selection of brain sreas for microscopic examination
14. Technical considerations in perinatal CNS tissue processing
15. Staining techniques
Reporting:
16. Formulation of diagnosis
17. Reporting templates
18. Medicolegal Considerations
Part II. Human Nervous System Development: Neuroanatomic Site Development:
19. Human nervous system development – embryonic and early fetal events
20. Cerebral cortex, including germinal matrix
21. White matter, including myelination
22. Cerebellum development of rhombic Lip, cerebellar cortex, dentate nucleus
23. Spinal cord
24. Skeletal muscle and peripheral nerve
25. Fetal and infant eye
Growth parameters: Head size and brain weight
Part III. Stillbirth: Autolysis and Artifacts:
27. Autolysis and artefacts
Stillbirths:
28. Stillbirth
Part IV. Disruptions/Hypoxic-Ischemic Injury: Cellular Responses:
29. Neuronal death
30. Macroglial reactions
31. Inflammatory responses
Gray matter:
32. Supratentorial grey matter damage and disruptions
33. Brainstem and spinal cord disruptions
white matter:
34. Periventricular leukomalacia and diffuse white matter injury
Germinal matrix:
35. Periventricular and intraventricular brain hemorrhage
Cerebellum:
37. Cerebellar lesions
Part V. Malformations: Neural Tube Defects and Patterning Defects:
37. Defects of neural tube Closure and axial mesodermal defects
38. Disorders of early midline patterning
Hydrocephalus: Fetal and perinatal hydrocephalus
Neuronal migration disorders:
40. Cerebral cortical migration disorders
Genetic syndromes and phacomatoses:
41. Fragile X syndrome
42. Down syndrome
43. Edwards's syndrome
44. Patau syndrome
45. Tuberous sclerosis complex
46. Sturge-weber syndrome
47. Neurocutaneous melanosis
Part VI. Congenital and Perinatal Brain Tumors:
48. Congenital and perinatal brain Tumors
Part VII. Spinal and Neuromuscular Disorders
Arthrogryposis:
49. Arthrogryposis
Spinal muscle atrophy (SMN AND NON-5Q SMA):
50. SMN and non-5q sMA,
Early-Onset hereditary neuropathies:
51. CMT neuropathies
Congenital muscle disorders:
52. Congenital myasthenic syndromes
53. Congenital muscular dystrophies
54. Congenital myopathies
55. Other congenital muscle diseases
Part VIII. Eye Disorders: Congenital Eye Disorders:
56. Congenital eye malformations and Deformations
Part IX. Infections in Utero Infections: Congenital viral, bacterial, and parasitic infections
Peri- and postnatal infections:
58. Meningitis and encephalitis
Part X. Metabolic/Toxic Disorders: Storage diseases: Lysosomal Disorders
60. Peroxisomal Disorders
Kernicterus:
61. Kernicterus
Mitochondrial diseases:
62.Mitochondrial diseases
Maternal toxin exposure:
63. Ethanol and other agents
Part XI. Forensic Neuropathology: Trauma:
64. Birth trauma
65. Accidental and non-accidental death
Sudden unexpected death in infancy and childhood:
66. Sudden unexpected death in infancy and childhood.

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. This book provides access to an online version on Cambridge Core, which can be accessed via the code printed on the inside of the cover. Compiling the latest advances in fetal and infant diagnostics and care, this book is a highly valuable educational resource.

• Approaches the subject matter from a practical standpoint, providing report templates that have been generated by leading experts in the subject that the reader can use as a basis for their own work
• Contains over 250 high-quality images and illustrations, which will aid the reader in understanding the content
• Readers can gain full HTML access of the whole book, with expandable figures and resources, via a scratch-off code inside the cover

Authors

Mirna Lechpammer, New York University School of Medicine
Mirna Lechpammer, MD, PhD is a Senior Neuropathologist and an Associate Medical Director, Foundation Medicine Inc., Cambridge, MA, USA and an Adjunct Associate Professor, Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY, USA.

Marc Del Bigio, University of Manitoba, Canada
Marc Del Bigio, MD, PhD, FRCPC is a Professor in the Department of Pathology at the Max Rady School of Medicine, University of Manitoba, Winnipeg, Canada.

Rebecca Folkerth, New York University School of Medicine
Rebecca D. Folkerth, MD is a Neuropathologist and City Medical Examiner II in the Office of Chief Medical Examiner, New York City and an Associate Clinical Professor of Forensic Medicine, New York University Grossman School of Medicine, New York, NY, USA

Contributors

Rebecca Folkerth, Marc Del Bigio, Mirna Lechpammer, Sanda Alexandrescu, Steven A. Moore