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.
|
|
vii | |
Introduction |
|
xiii | |
|
1 Central Nervous System Manifestations of Chromosomal Change |
|
|
1 | (12) |
|
|
|
13 | (16) |
|
|
|
3 Midline Patterning Defects |
|
|
29 | (12) |
|
|
|
|
41 | (14) |
|
|
|
|
|
5 Hemimegalencephaly and Dysplastic Megalencephaly |
|
|
55 | (8) |
|
|
|
|
|
|
|
63 | (12) |
|
|
7 Lissencephaly, Type II (Cobblestone Lissencephaly) |
|
|
75 | (10) |
|
|
|
85 | (6) |
|
|
|
91 | (10) |
|
|
|
10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia |
|
|
101 | (16) |
|
|
11 Tuberous Sclerosis Complex |
|
|
117 | (16) |
|
|
|
|
133 | (8) |
|
|
|
13 Dandy-Walker Malformation, Mega Cisterna Magna, and Blake's Pouch Cyst |
|
|
141 | (10) |
|
|
|
|
|
151 | (8) |
|
|
|
|
15 Cerebellar Heterotopia and Dysplasia |
|
|
159 | (8) |
|
|
|
16 Brainstem Malformations |
|
|
167 | (12) |
|
|
|
179 | (8) |
|
|
|
|
187 | (12) |
|
|
19 Antenatal Disruptive Lesions |
|
|
199 | (4) |
|
|
|
203 | (10) |
|
|
21 White Matter Lesions in the Perinatal Period |
|
|
213 | (16) |
|
|
|
|
229 | (12) |
|
|
|
241 | (10) |
|
|
|
|
24 Pediatric Vascular Malformations |
|
|
251 | (18) |
|
|
|
|
25 Sudden Infant Death Syndrome |
|
|
269 | (12) |
|
|
|
|
|
|
281 | (4) |
|
|
|
27 Lesions Induced by Toxins |
|
|
285 | (8) |
|
|
|
|
28 Disorders of Carbohydrate Metabolism |
|
|
293 | (20) |
|
|
|
|
|
29 Sphingolipidoses and Related Disorders |
|
|
313 | (56) |
|
|
|
|
|
30 The Neuronal Ceroid Lipofuscinoses |
|
|
369 | (12) |
|
|
|
|
|
|
381 | (12) |
|
|
32 Mitochondrial Disorders |
|
|
393 | (10) |
|
|
|
33 Disorders of Amino Acid Metabolism and Canavan Disease |
|
|
403 | (14) |
|
|
34 Pelizaeus--Merzbacher Disease |
|
|
417 | (10) |
|
|
|
427 | (10) |
|
|
|
36 Vanishing White Matter Disease |
|
|
437 | (10) |
|
|
|
|
|
447 | (8) |
|
|
|
38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation |
|
|
455 | (14) |
|
|
|
|
|
|
|
39 Spinal Muscular Atrophy |
|
|
469 | (8) |
|
|
40 Autism Spectrum Disorders |
|
|
477 | (20) |
|
|
41 Intrauterine Infections |
|
|
497 | (14) |
|
|
|
42 Perinatal and Postnatal Infections |
|
|
511 | (20) |
|
|
43 Rasmussen Encephalitis |
|
|
531 | (6) |
|
|
|
Index |
|
537 | |
Homa Adle-Biassette Inserm U676, Université Paris Diderot (P7), Hōpital 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.