Developmental Neuropathology (2^nd Ed.) International Society of Neuropathology Series

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 to be approved by 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. The text provides:

• 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.

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 Laquerriere, ` Nathalie Journiac, and Pierre Gressens

5 Hemimegalencephaly and Dysplastic Megalencephaly, 55

Ghayda Mirzaa, Achira Roy, William B. Dobyns, Kathleen Millen, and Robert F. Hevner

6 Lissencephaly, Type I, 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 and Harry 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 Laquerriere 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. Bonnemann, ¨ Werner Stenzel, and Hans-H. Goebel

29 Sphingolipidoses and Related Disorders, 313

Annie Laquerriere, 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 Vanishing White 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, Sarah Wiethoff, 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

Homa Adle-Biassette Inserm U676, Université Paris Diderot (P7), Hôpital Robert Debré, Paris, France.

Brian Harding Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Jeffrey Golden Ramzi S. Cotran Professor of Pathology, Harvard Medical School, and Chair of Pathology Brigham and Women's Hospital, Boston, MA, USA.