Developmental Neuropathology

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.

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.

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

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