Perinatal Neuropathology

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

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.