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, viiIntroduction, xiii1 Central Nervous System Manifestations of Chromosomal Change, 1Joseph R. Siebert2 Neural Tube Defects, 13Andrew J. Copp and Brian N. Harding3 Midline Patterning Defects, 29Edwin S. Monuki and Jeffrey A. Golden4 Microcephaly, 41Sandrine Passemard, Annie Laquerriere, ` Nathalie Journiac, and Pierre Gressens5 Hemimegalencephaly and Dysplastic Megalencephaly, 55Ghayda Mirzaa, Achira Roy, William B. Dobyns, Kathleen Millen, and Robert F. Hevner6 Lissencephaly, Type I, 63Jeffrey A. Golden7 Lissencephaly, Type II (Cobblestone Lissencephaly), 75Jeffrey A. Golden8 Polymicrogyria, 85Jeffrey A. Golden9 Cerebral Heterotopia, 91Edwin S. Monuki and Keith L. Ligon10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia, 101Maria Thom11 Tuberous Sclerosis Complex, 117Shino D. Magaki and Harry V. Vinters12 Chiari Malformations, 133Homa Adle-Biassette and Jeffrey A. Golden13 Dandy–Walker Malformation, Mega Cisterna Magna, and Blake’s Pouch Cyst, 141Robert F. Hevner, Kathleen Millen, and William B. Dobyns14 Joubert Syndrome, 151Robert F. Hevner, William B. Dobyns, and Enza Maria Valente15 Cerebellar Heterotopia and Dysplasia, 159Marie Rivera-Zengotita and Anthony T. Yachnis16 Brainstem Malformations, 167Brian N. Harding17 Spinal Cord Lesions, 179Annie Laquerriere and Florent Marguet 18 Hydrocephalus, 187Homa Adle-Biassette19 Antenatal Disruptive Lesions, 199Brian N. Harding20 Hemorrhagic Lesions, 203Marc R. Del Bigio21 White Matter Lesions in the Perinatal Period, 213Robin L. Haynes and Rebecca D. Folkerth22 Gray Matter Lesions, 229Marc R. Del Bigio23 Pediatric Head Injury, 241Colin Smith, Thomas S. Jacques, and R. Ross Reichard24 Pediatric Vascular Malformations, 251Shino D. Magaki, Randy Tashjian, and Harry V. Vinters25 Sudden Infant Death Syndrome, 269Hannah C. Kinney, Marco M. Hefti, Richard D. Goldstein, and Robin L. Haynes26 Kernicterus, 281Mariarita Santi and Lucy B. Rorke27 Lesions Induced by Toxins, 285Mariarita Santi, Lucy B. Rorke, and Catherine Keohane28 Disorders of Carbohydrate Metabolism, 293Josefine Radke, Carsten G. Bonnemann, Werner Stenzel, and Hans-H. Goebel29 Sphingolipidoses and Related Disorders, 313Annie Laquerriere, Soumeya Bekri, Kinoko Suzuki, and Brian N. Harding30 The Neuronal Ceroid Lipofuscinoses, 369Josefine Radke, Krystina E. Wisniewski, Werner Stenzel, and Hans-H. Goebel31 Peroxisomal Disorders, 381Phyllis L. Faust32 Mitochondrial Disorders, 393Anders Oldfors and Brian N. Harding33 Disorders of Amino Acid Metabolism and Canavan Disease, 403Dimitri P. Agamanolis34 Pelizaeus–Merzbacher Disease, 417Brian N. Harding35 Cockayne Syndrome, 427Karen M. Weidenheim and P. J. Brooks36 Vanishing White Matter Disease, 437Marianna Bugiani, James M. Powers, and Marjo S. van der Knaap37 Alexander Disease, 447James E. Goldman and Mel B. Feany38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation, 455Abi Li, Sarah Wiethoff, Charles Arber, Henry Houlden, Tamas Revesz, and Janice L. Holton39 Spinal Muscular Atrophy, 469Brian N. Harding40 Autism Spectrum Disorders, 477Matthew P. Anderson41 Intrauterine Infections, 497Catherine Keohane and Homa Adle-Biassette42 Perinatal and Postnatal Infections, 511Catherine Keohane43 Rasmussen Encephalitis, 531Harry V. Vinters, Shino D. Magaki, and Geoffrey C. OwensIndex, 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.

• List of Contributors, viiIntroduction, xiii1 Central Nervous System Manifestations of Chromosomal Change, 1Joseph R. Siebert2 Neural Tube Defects, 13Andrew J. Copp and Brian N. Harding3 Midline Patterning Defects, 29Edwin S. Monuki and Jeffrey A. Golden4 Microcephaly, 41Sandrine Passemard, Annie Laquerriere, ` Nathalie Journiac, and Pierre Gressens5 Hemimegalencephaly and Dysplastic Megalencephaly, 55Ghayda Mirzaa, Achira Roy, William B. Dobyns, Kathleen Millen, and Robert F. Hevner6 Lissencephaly, Type I, 63Jeffrey A. Golden7 Lissencephaly, Type II (Cobblestone Lissencephaly), 75Jeffrey A. Golden8 Polymicrogyria, 85Jeffrey A. Golden9 Cerebral Heterotopia, 91Edwin S. Monuki and Keith L. Ligon10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia, 101Maria Thom11 Tuberous Sclerosis Complex, 117Shino D. Magaki and Harry V. Vinters12 Chiari Malformations, 133Homa Adle-Biassette and Jeffrey A. Golden13 Dandy–Walker Malformation, Mega Cisterna Magna, and Blake’s Pouch Cyst, 141Robert F. Hevner, Kathleen Millen, and William B. Dobyns14 Joubert Syndrome, 151Robert F. Hevner, William B. Dobyns, and Enza Maria Valente15 Cerebellar Heterotopia and Dysplasia, 159Marie Rivera-Zengotita and Anthony T. Yachnis16 Brainstem Malformations, 167Brian N. Harding17 Spinal Cord Lesions, 179Annie Laquerriere and Florent Marguet 18 Hydrocephalus, 187Homa Adle-Biassette19 Antenatal Disruptive Lesions, 199Brian N. Harding20 Hemorrhagic Lesions, 203Marc R. Del Bigio21 White Matter Lesions in the Perinatal Period, 213Robin L. Haynes and Rebecca D. Folkerth22 Gray Matter Lesions, 229Marc R. Del Bigio23 Pediatric Head Injury, 241Colin Smith, Thomas S. Jacques, and R. Ross Reichard24 Pediatric Vascular Malformations, 251Shino D. Magaki, Randy Tashjian, and Harry V. Vinters25 Sudden Infant Death Syndrome, 269Hannah C. Kinney, Marco M. Hefti, Richard D. Goldstein, and Robin L. Haynes26 Kernicterus, 281Mariarita Santi and Lucy B. Rorke27 Lesions Induced by Toxins, 285Mariarita Santi, Lucy B. Rorke, and Catherine Keohane28 Disorders of Carbohydrate Metabolism, 293Josefine Radke, Carsten G. Bonnemann, Werner Stenzel, and Hans-H. Goebel29 Sphingolipidoses and Related Disorders, 313Annie Laquerriere, Soumeya Bekri, Kinoko Suzuki, and Brian N. Harding30 The Neuronal Ceroid Lipofuscinoses, 369Josefine Radke, Krystina E. Wisniewski, Werner Stenzel, and Hans-H. Goebel31 Peroxisomal Disorders, 381Phyllis L. Faust32 Mitochondrial Disorders, 393Anders Oldfors and Brian N. Harding33 Disorders of Amino Acid Metabolism and Canavan Disease, 403Dimitri P. Agamanolis34 Pelizaeus–Merzbacher Disease, 417Brian N. Harding35 Cockayne Syndrome, 427Karen M. Weidenheim and P. J. Brooks36 Vanishing White Matter Disease, 437Marianna Bugiani, James M. Powers, and Marjo S. van der Knaap37 Alexander Disease, 447James E. Goldman and Mel B. Feany38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation, 455Abi Li, Sarah Wiethoff, Charles Arber, Henry Houlden, Tamas Revesz, and Janice L. Holton39 Spinal Muscular Atrophy, 469Brian N. Harding40 Autism Spectrum Disorders, 477Matthew P. Anderson41 Intrauterine Infections, 497Catherine Keohane and Homa Adle-Biassette42 Perinatal and Postnatal Infections, 511Catherine Keohane43 Rasmussen Encephalitis, 531Harry V. Vinters, Shino D. Magaki, and Geoffrey C. OwensIndex, 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.

• List of Contributors, viiIntroduction, xiii1 Central Nervous System Manifestations of Chromosomal Change, 1Joseph R. Siebert2 Neural Tube Defects, 13Andrew J. Copp and Brian N. Harding3 Midline Patterning Defects, 29Edwin S. Monuki and Jeffrey A. Golden4 Microcephaly, 41Sandrine Passemard, Annie Laquerriere, ` Nathalie Journiac, and Pierre Gressens5 Hemimegalencephaly and Dysplastic Megalencephaly, 55Ghayda Mirzaa, Achira Roy, William B. Dobyns, Kathleen Millen, and Robert F. Hevner6 Lissencephaly, Type I, 63Jeffrey A. Golden7 Lissencephaly, Type II (Cobblestone Lissencephaly), 75Jeffrey A. Golden8 Polymicrogyria, 85Jeffrey A. Golden9 Cerebral Heterotopia, 91Edwin S. Monuki and Keith L. Ligon10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia, 101Maria Thom11 Tuberous Sclerosis Complex, 117Shino D. Magaki and Harry V. Vinters12 Chiari Malformations, 133Homa Adle-Biassette and Jeffrey A. Golden13 Dandy–Walker Malformation, Mega Cisterna Magna, and Blake’s Pouch Cyst, 141Robert F. Hevner, Kathleen Millen, and William B. Dobyns14 Joubert Syndrome, 151Robert F. Hevner, William B. Dobyns, and Enza Maria Valente15 Cerebellar Heterotopia and Dysplasia, 159Marie Rivera-Zengotita and Anthony T. Yachnis16 Brainstem Malformations, 167Brian N. Harding17 Spinal Cord Lesions, 179Annie Laquerriere and Florent Marguet 18 Hydrocephalus, 187Homa Adle-Biassette19 Antenatal Disruptive Lesions, 199Brian N. Harding20 Hemorrhagic Lesions, 203Marc R. Del Bigio21 White Matter Lesions in the Perinatal Period, 213Robin L. Haynes and Rebecca D. Folkerth22 Gray Matter Lesions, 229Marc R. Del Bigio23 Pediatric Head Injury, 241Colin Smith, Thomas S. Jacques, and R. Ross Reichard24 Pediatric Vascular Malformations, 251Shino D. Magaki, Randy Tashjian, and Harry V. Vinters25 Sudden Infant Death Syndrome, 269Hannah C. Kinney, Marco M. Hefti, Richard D. Goldstein, and Robin L. Haynes26 Kernicterus, 281Mariarita Santi and Lucy B. Rorke27 Lesions Induced by Toxins, 285Mariarita Santi, Lucy B. Rorke, and Catherine Keohane28 Disorders of Carbohydrate Metabolism, 293Josefine Radke, Carsten G. Bonnemann, Werner Stenzel, and Hans-H. Goebel29 Sphingolipidoses and Related Disorders, 313Annie Laquerriere, Soumeya Bekri, Kinoko Suzuki, and Brian N. Harding30 The Neuronal Ceroid Lipofuscinoses, 369Josefine Radke, Krystina E. Wisniewski, Werner Stenzel, and Hans-H. Goebel31 Peroxisomal Disorders, 381Phyllis L. Faust32 Mitochondrial Disorders, 393Anders Oldfors and Brian N. Harding33 Disorders of Amino Acid Metabolism and Canavan Disease, 403Dimitri P. Agamanolis34 Pelizaeus–Merzbacher Disease, 417Brian N. Harding35 Cockayne Syndrome, 427Karen M. Weidenheim and P. J. Brooks36 Vanishing White Matter Disease, 437Marianna Bugiani, James M. Powers, and Marjo S. van der Knaap37 Alexander Disease, 447James E. Goldman and Mel B. Feany38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation, 455Abi Li, Sarah Wiethoff, Charles Arber, Henry Houlden, Tamas Revesz, and Janice L. Holton39 Spinal Muscular Atrophy, 469Brian N. Harding40 Autism Spectrum Disorders, 477Matthew P. Anderson41 Intrauterine Infections, 497Catherine Keohane and Homa Adle-Biassette42 Perinatal and Postnatal Infections, 511Catherine Keohane43 Rasmussen Encephalitis, 531Harry V. Vinters, Shino D. Magaki, and Geoffrey C. OwensIndex, 537