A DEFINITIVE, CLINICALLY ORIENTED GUIDE TO THE PATHOLOGY OF GENETICS OF DEVELOPMENTAL NEUROPATHOLOGY
Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre– and post–natal life, with emphasis on the genetic and molecular mechanisms involved. This book provides a practical guide to diagnosing and understanding these disorders affecting this vulnerable population and potentially stimulates further advances in this exciting area. It also addresses the controversies in inflicted head injury in infants.
The fourth major title published in association with the International Society of Neuropathology (ISN), Developmental Neuropathology offers in–depth chapter coverage of brain development; chromosomal changes; malformations; secondary malformations and destructive pathologies; developmental vascular disorders; acquired metabolic and exogenous toxins; metabolic disorders; Rett syndrome and autism; and infectious diseases.
- Clinical, disease–oriented approach to the pathology and genetics developmental neuropathology
- Fuses classical and contemporary investigative approaches
- Includes genetic and molecular biological pathogeneses
- Fully illustrated
- Approved and endorsed by International Society of Neuropathology
Developmental Neuropathology is the perfect book for practicing neuropathologists, pediatric pathologists, general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.
Table of Contents
List of Contributors vii
Introduction xiii
1 Central Nervous System Manifestations of Chromosomal Change 1
Joseph R. Siebert
2 Neural Tube Defects 13
Andrew J. Copp and Brian N. Harding
3 Midline Patterning Defects 29
Edwin S. Monuki and Jeffrey A. Golden
4 Microcephaly 41
Sandrine Passemard Annie Laquerri`ere Nathalie Journiac and Pierre Gressens
5 Hemimegalencephaly and Dysplastic Megalencephaly 55
Ghayda Mirzaa Achira RoyWilliam B. Dobyns Kathleen Millen and Robert F. Hevner
6 LissencephalyTypeI 63
Jeffrey A. Golden
7 Lissencephaly Type II (Cobblestone Lissencephaly) 75
Jeffrey A. Golden
8 Polymicrogyria 85
Jeffrey A. Golden
9 Cerebral Heterotopia 91
Edwin S. Monuki and Keith L. Ligon
10 Hippocampal Sclerosis Granule Cell Dispersion and Cortical Dysplasia 101
Maria Thom
11 Tuberous Sclerosis Complex 117
Shino D. Magaki andHarry V. Vinters
12 Chiari Malformations 133
Homa Adle–Biassette and Jeffrey A. Golden
13 Dandy Walker Malformation Mega Cisterna Magna and Blake s Pouch Cyst 141
Robert F. Hevner Kathleen Millen and William B. Dobyns
14 Joubert Syndrome 151
Robert F. Hevner, William B. Dobyns and Enza Maria Valente
15 Cerebellar Heterotopia and Dysplasia 159
Marie Rivera–Zengotita and Anthony T. Yachnis
16 Brainstem Malformations 167
Brian N. Harding
17 Spinal Cord Lesions 179
Annie Laquerri`ere and Florent Marguet
18 Hydrocephalus 187
Homa Adle–Biassette
19 Antenatal Disruptive Lesions 199
Brian N. Harding
20 Hemorrhagic Lesions 203
Marc R. Del Bigio
21 White Matter Lesions in the Perinatal Period 213
Robin L. Haynes and Rebecca D. Folkerth
22 Gray Matter Lesions 229
Marc R. Del Bigio
23 Pediatric Head Injury 241
Colin Smith, Thomas S. Jacques and R. Ross Reichard
24 Pediatric Vascular Malformations 251
Shino D. Magaki, Randy Tashjian and Harry V. Vinters
25 Sudden Infant Death Syndrome 269
Hannah C. Kinney, Marco M. Hefti, Richard D. Goldstein, and Robin L. Haynes
26 Kernicterus 281
Mariarita Santi and Lucy B. Rorke
27 Lesions Induced by Toxins 285
Mariarita Santi, Lucy B. Rorke, and Catherine Keohane
28 Disorders of Carbohydrate Metabolism 293
Josefine Radke, Carsten G. B¨onnemann, Werner Stenzel, and Hans–H. Goebel
29 Sphingolipidoses and Related Disorders 313
Annie Laquerri`ere, Soumeya Bekri, Kinoko Suzuki, and Brian N. Harding
30 The Neuronal Ceroid Lipofuscinoses 369
Josefine Radke, Krystina E.Wisniewski, Werner Stenzel and Hans–H. Goebel
31 Peroxisomal Disorders 381
Phyllis L. Faust
32 Mitochondrial Disorders 393
Anders Oldfors and Brian N. Harding
33 Disorders of Amino Acid Metabolism and Canavan Disease 403
Dimitri P. Agamanolis
34 Pelizaeus Merzbacher Disease 417
Brian N. Harding
35 Cockayne Syndrome 427
Karen M.Weidenheim and P. J. Brooks
36 VanishingWhite Matter Disease 437
Marianna Bugiani, James M. Powers, and Marjo S. van der Knaap
37 Alexander Disease 447
James E. Goldman and Mel B. Feany
38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation 455
Abi Li SarahWiethoff, Charles Arber, Henry Houlden, Tamas Revesz, and Janice L. Holton
39 Spinal Muscular Atrophy 469
Brian N. Harding
40 Autism Spectrum Disorders 477
Matthew P. Anderson
41 Intrauterine Infections 497
Catherine Keohane and Homa Adle–Biassette
42 Perinatal and Postnatal Infections 511
Catherine Keohane
43 Rasmussen Encephalitis 531
Harry V. Vinters, Shino D.Magaki. and Geoffrey C. Owens
Index 537
