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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:
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, 1Joseph R. Siebert
2 Neural Tube Defects, 13Andrew J. Copp and Brian N. Harding
3 Midline Patterning Defects, 29Edwin S. Monuki and Jeffrey A. Golden
4 Microcephaly, 41Sandrine Passemard, Annie Laquerriere, ` Nathalie Journiac, and Pierre Gressens
5 Hemimegalencephaly and Dysplastic Megalencephaly, 55Ghayda Mirzaa, Achira Roy, William B. Dobyns, Kathleen Millen, and Robert F. Hevner
6 Lissencephaly, Type I, 63Jeffrey A. Golden
7 Lissencephaly, Type II (Cobblestone Lissencephaly), 75Jeffrey A. Golden
8 Polymicrogyria, 85Jeffrey A. Golden
9 Cerebral Heterotopia, 91Edwin S. Monuki and Keith L. Ligon
10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia, 101Maria Thom
11 Tuberous Sclerosis Complex, 117Shino D. Magaki and Harry V. Vinters
12 Chiari Malformations, 133Homa Adle-Biassette and Jeffrey A. Golden
13 Dandy-Walker Malformation, Mega Cisterna Magna, and Blake's Pouch Cyst, 141Robert F. Hevner, Kathleen Millen, and William B. Dobyns
14 Joubert Syndrome, 151Robert F. Hevner, William B. Dobyns, and Enza Maria Valente
15 Cerebellar Heterotopia and Dysplasia, 159Marie Rivera-Zengotita and Anthony T. Yachnis
16 Brainstem Malformations, 167Brian N. Harding
17 Spinal Cord Lesions, 179Annie Laquerriere and Florent Marguet
18 Hydrocephalus, 187Homa Adle-Biassette
19 Antenatal Disruptive Lesions, 199Brian N. Harding
20 Hemorrhagic Lesions, 203Marc R. Del Bigio
21 White Matter Lesions in the Perinatal Period, 213Robin L. Haynes and Rebecca D. Folkerth
22 Gray Matter Lesions, 229Marc R. Del Bigio
23 Pediatric Head Injury, 241Colin Smith, Thomas S. Jacques, and R. Ross Reichard
24 Pediatric Vascular Malformations, 251Shino D. Magaki, Randy Tashjian, and Harry V. Vinters
25 Sudden Infant Death Syndrome, 269Hannah C. Kinney, Marco M. Hefti, Richard D. Goldstein, and Robin L. Haynes
26 Kernicterus, 281Mariarita Santi and Lucy B. Rorke
27 Lesions Induced by Toxins, 285Mariarita Santi, Lucy B. Rorke, and Catherine Keohane
28 Disorders of Carbohydrate Metabolism, 293Josefine Radke, Carsten G. Bonnemann, Werner Stenzel, and Hans-H. Goebel
29 Sphingolipidoses and Related Disorders, 313Annie Laquerriere, Soumeya Bekri, Kinoko Suzuki, and Brian N. Harding
30 The Neuronal Ceroid Lipofuscinoses, 369Josefine Radke, Krystina E. Wisniewski, Werner Stenzel, and Hans-H. Goebel
31 Peroxisomal Disorders, 381Phyllis L. Faust
32 Mitochondrial Disorders, 393Anders Oldfors and Brian N. Harding
33 Disorders of Amino Acid Metabolism and Canavan Disease, 403Dimitri P. Agamanolis
34 Pelizaeus-Merzbacher Disease, 417Brian N. Harding
35 Cockayne Syndrome, 427Karen M. Weidenheim and P. J. Brooks
36 Vanishing White Matter Disease, 437Marianna Bugiani, James M. Powers, and Marjo S. van der Knaap
37 Alexander Disease, 447James E. Goldman and Mel B. Feany
38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation, 455Abi Li, Sarah Wiethoff, Charles Arber, Henry Houlden, Tamas Revesz, and Janice L. Holton
39 Spinal Muscular Atrophy, 469Brian N. Harding
40 Autism Spectrum Disorders, 477Matthew P. Anderson
41 Intrauterine Infections, 497Catherine Keohane and Homa Adle-Biassette
42 Perinatal and Postnatal Infections, 511Catherine Keohane
43 Rasmussen Encephalitis, 531Harry V. Vinters, Shino D. Magaki, and Geoffrey C. Owens
Index, 537
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