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Developmental Neuropathology
Homa Adle-Biassette, Brian N. Harding, Jeffrey A. Golden, Francoise Gray, Katy Keohane
Verlag Wiley-Blackwell, 2018
ISBN 9781119013099 , 560 Seiten
2. Auflage
Format PDF, OL
Kopierschutz DRM
Geräte
Developmental Neuropathology
3
Contents
7
List of Contributors
9
Introduction
15
1 Central Nervous System Manifestations of Chromosomal Change
17
Introduction
17
The craniofacial complex
17
Genetic counseling and the neuropathologist
17
Autosomal trisomy
17
Trisomy 8
18
Trisomy 9
18
Trisomy 13
18
Trisomy 18
19
Trisomy 21
19
Other autosomal aneuploidies
21
Triploidy
21
Tetraploidy
22
Sex chromosome aneuploidy
22
Deletions
22
Deletion 3p-
22
Deletion 4p-
22
Deletion 5p-
23
Deletion 9p-
23
Deletion 11q-
23
Deletion 13q-
25
Deletion 18p-
25
Deletion 18q-
25
Deletion 21q-
25
Duplications
25
Duplication 3q+
25
Duplication 9p+
25
Future perspective, conclusions
26
References
26
2 Neural Tube Defects
29
Definition
29
Normal embryology
29
Neural tube closure
29
Development of the skull and vertebral column
30
Secondary neurulation within the tail bud
31
Epidemiology
31
Prevalence
31
Sex distribution
31
Non-genetic risk factors
31
Clinical features
32
Clinical presentation
32
Biochemistry and prenatal diagnosis
32
Differential diagnosis
32
Pathology
32
Neural tube closure disorders
32
Axial mesodermal defects with herniation of the neural tube
34
Spinal dysraphism: defects of tail bud development
36
Genetics
37
Human genetic studies
37
Mouse genetic studies
37
Genetics of occipital encephalocele
38
Animal models and pathogenesis
38
Craniorachischisis
39
Exencephaly
39
Myelomeningocele
40
Treatment, future directions and conclusions
41
Surgical treatment
41
Primary prevention
42
References
42
3 Midline Patterning Defects
45
Definition of the disorder, major synonyms and historical perspective
45
Embryology of forebrain patterning
45
Holoprosencephaly
46
Definition
46
Synonyms and historical annotations
46
Epidemiology
46
Incidence
46
Genetics
47
Clinical features including appropriate investigations
47
Pathology
47
Pathogenesis and experimental models
50
Future directions and therapy
51
Atelencephaly and aprosencephaly
51
Definition and synonyms
51
Genetics
51
Pathology
51
Pathogenesis
52
Agenesis of the corpus callosum
52
Definition and epidemiology
52
Genetics
52
Clinical features including appropriate investigations
52
Pathology
52
Differential diagnosis
53
Embryology, pathogenesis and experimental models
53
Septo-optic dysplasia
53
Definition and synonyms
53
Genetics
53
Clinical features
53
Pathology
53
Differential diagnosis
53
Embryology, pathogenesis and experimental models
54
Other midline patterning defects
54
References
54
4 Microcephaly
57
Definitions, major synonyms and historical perspective
57
Normal embryology
57
Epidemiology
58
Clinical features
59
Imaging
59
Genetics
59
Autosomal recessive primary microcephaly
59
Dwarfism associated with microcephaly and DNA repair deficiency syndromes
59
Chromosomal structural microcephalies
59
Monogenic syndromic microcephalies
59
Metabolic microcephalies
60
Neuropathology
60
Differential diagnosis
62
Animal models and pathogenesis
67
Treatment, future perspectives, conclusions
68
References
68
5 Hemimegalencephaly and Dysplastic Megalencephaly
71
Definition and synonyms
71
Epidemiology and genetics
71
Clinical features and differential diagnosis
71
Clinical examination
71
Neuroimaging
72
Macroscopy
73
Histopathology
73
Immunohistochemistry
75
Pathogenesis
75
Experimental models
75
Models of DMEG
75
Models of HMEG or focal cortical dysplasia
75
Future investigations and therapies
75
Current therapies
75
Future investigation and potential therapies
75
References
76
6 Lissencephaly, Type I
79
Definition
79
Synonyms and historical annotations
79
Epidemiology
79
Incidence and prevalence
79
Sex and age distribution
79
Risk factors
79
Embryology
80
Genetics
81
Clinical features
82
Signs and symptoms
82
Imaging
82
Laboratory findings
82
Macroscopy
82
Histopathology
83
Immunohistochemistry and ultrastructural findings
84
Differential diagnosis
84
Experimental models and pathogenesis
84
Future directions and therapy
87
References
87
7 Lissencephaly, Type II (Cobblestone Lissencephaly)
91
Definition
91
Synonyms
91
Epidemiology
91
Genetics
91
Clinical features
92
Imaging
93
Embryology
93
Macroscopy
93
Histopathology
95
Differential diagnosis
96
Pathogenesis
97
Future directions and therapy
98
References
98
8 Polymicrogyria
101
Definition
101
Epidemiology
101
Incidence and prevalence
101
Sex and age distribution
101
Risk factors
101
Genetics
101
Clinical features
101
Signs and symptoms
101
Imaging
102
Laboratory findings
102
Macroscopy
103
Histopathology
103
Differential diagnosis
104
Experimental models
104
Pathogenesis
104
Future directions and therapy
105
References
105
9 Cerebral Heterotopia
107
Definition, major synonyms and historical perspective
107
Normal embryology
107
Epidemiology
108
Incidence and prevalence
108
Sex and age distribution
108
Risk factors
109
Clinical features
109
Signs and symptoms
109
Imaging
110
Macroscopy
110
Histopathology, immunohistochemistry and electron microscopy
110
Differential diagnosis
111
Genetics
111
Leptomeningeal heterotopia
111
Subcortical-band heterotopia
111
Periventricular heterotopia
112
Animal models
112
Leptomeningeal heterotopia
113
Subcortical-band heterotopia
113
Periventricular heterotopia
113
Pathogenesis
113
Genetic mechanisms in heterotopia: mosaicism in subcortical-band and periventricular heterotopias
113
Cellular mechanisms in heterotopia: defects at distinct stages in radial glial-guided neuronal migration
113
Molecular mechanisms and pathways regulating heterotopia formation
114
Non-genetic mechanisms in heterotopia
114
Treatment, future perspectives, and conclusions
114
References
114
10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia
117
Part 1: Hippocampal sclerosis and granule cell dispersion
117
Definition, major synonyms and historical perspective
117
Normal embryology
117
Epidemiology
117
Clinical features
118
Pathology
118
Genetics and pathogenesis
120
Animal models
122
Treatment, future perspective, conclusions
122
Part 2: Cortical dysplasia
122
Definition, major synonyms and historical perspective
122
Normal embryology
122
Epidemiology
123
Clinical features
123
Pathology
124
Genetics and pathogenesis
127
Animal models
128
Surgical treatments and outcome
129
Future perspectives and conclusions
129
References
129
11 Tuberous Sclerosis Complex
133
Definition
133
Synonyms and historical annotations
133
Epidemiology
133
Incidence and prevalence
133
Sex and age distribution
134
Risk factors
134
Embryology
134
Genetics
134
Clinical features
134
Signs and symptoms
134
Neuroimaging
135
Laboratory findings
136
Macroscopy
136
Histopathology
137
Immunohistochemistry findings
141
Ultrastructural findings
142
Differential diagnosis
142
Experimental models
142
Pathogenesis
143
Future directions and therapy
144
References
145
12 Chiari Malformations
149
Definition, major synonyms and historical perspective
149
Embryology
149
Epidemiology
150
Incidence and prevalence
150
Risk factors
150
Clinical features
150
Radiology
151
Macroscopy and histopathology
151
Chiari type I and II
151
Chiari type III
152
Differential diagnosis
153
Genetics
153
Experimental models
153
Pathogenesis
154
Future directions and therapy
154
References
154
13 Dandy–Walker Malformation, Mega Cisterna Magna, and Blakes Pouch Cyst
157
Definitions
157
Synonyms and historical annotations
157
Clinical features
158
Neuroimaging
159
Children and adults
159
Fetal neuroimaging
160
Epidemiology and genetics
160
Pathology
160
Macroscopy
160
Histopathology
162
Differential diagnosis
162
Embryology
162
Development of the cerebellum and fourth ventricle
162
Blakes pouch
163
Anterior and posterior membranous areas of embryonic tela choroidea
163
“Fusion” of the vermis
163
Pathogenesis and etiology
163
Pathogenesis of cystic fourth ventricle
163
Pathogenesis of enlarged posterior fossa
164
Pathogenesis of cerebellar hypoplasia in DWM
164
Experimental models
164
Teratogen exposure
164
Genetic models
164
Treatment
165
Future investigations
165
References
165
14 Joubert Syndrome
167
Definition
167
Epidemiology
167
Clinical features
167
Neurologic presentation
167
Non-neurologic features and subgroups
167
Neuroimaging
168
The “molar tooth” sign
168
Other brain malformations seen by neuroimaging
169
Fetal neuroimaging
169
Neuropathology
169
Cerebellum
169
Brainstem
170
Dorsal medullary protuberance
171
Spinal cord
171
Cerebral hemispheres and diencephalon
171
Differential diagnosis
171
Genetics
171
Inheritance and genes
171
Genotype–phenotype correlations
171
Allelic Joubert syndrome-related disorders
172
Pathogenesis
172
Primary cilia
172
Animal models
172
Treatment
172
References
172
15 Cerebellar Heterotopia and Dysplasia
175
Definitions
175
Cerebellar heterotopia of infancy
175
Cerebellar dysplasias associated with neurodevelopmental syndromes
177
Rhombencephalosynapsis
178
Definition
178
Normal embryology
178
Epidemiology
178
Clinical and imaging features
180
Pathology
180
Genetics
180
Animal models
180
Treatment
180
References
180
16 Brainstem Malformations
183
Introduction
183
Olivary heterotopia
183
Definition
183
Epidemiology, clinical features and genetics
183
Imaging and laboratory findings
183
Macroscopy
183
Histopathology
183
Embryology and pathogenesis
183
Dysplasias of the dentate and olivary nuclei
183
Definition
183
Epidemiology, clinical features and genetics
184
Embryology and pathogenesis
184
Macroscopy
184
Histopathology
184
Dentato–olivary dysplasia with intractable seizures in infancy
184
Definition
184
Historical annotation
184
Epidemiology
184
Genetics
185
Clinical features
185
Imaging
185
Laboratory findings
185
Macroscopy
185
Histopathology
185
Differential diagnosis
186
Pathogenesis, animal models, therapy and future directions
186
Möbius syndrome
186
Definition
186
Epidemiology
186
Genetics
186
Clinical features
186
Laboratory findings
186
Macroscopy
186
Histopathology
186
Differential diagnosis
187
Experimental models
187
Pathogenesis
187
Treatment
187
Pontine tegmental cap dysplasia
187
Definition
187
Embryology
187
Epidemiology
187
Clinical features and investigation
187
Pathology
187
Genetics and pathogenesis
188
Pontocerebellar hypoplasia
188
Definition and synonyms
188
Historical perspective
188
Embryology
188
Epidemiology
188
Clinical features
188
Pathology
188
Genetics
189
Pathogenesis
189
Animal models.
190
Treatment
190
Granule cell aplasia
190
Definition and synonym
190
Embryology
190
Epidemiology and clinical features
190
Pathology
190
Genetics
191
Pathogenesis and animal models
191
References
191
17 Spinal Cord Lesions
195
Introduction
195
Definitions, synonyms and epidemiology
195
Tethered spinal cord
195
Hydromyelia
195
Myelocystocele
195
Syringomyelia
195
“Split notochord syndrome”
195
Holomyelia
196
Hemimegamyelia
196
Duplication of the central canal of the spinal cord
196
Malformative atresia–forking of the central canal of the spinal cord
196
Risk factors
196
Genetics
197
Clinical features
199
Imaging
199
Macroscopy
199
Histopathology
199
Differential diagnosis
201
Pathogenesis
201
Treatment
201
References
201
18 Hydrocephalus
203
Definition, major synonyms and historical perspective
203
Normal embryology and pathways of CSF production, circulation and resorption
203
Epidemiology
204
Clinical features
204
Pathology and physiopathology
204
Pathophysiology and morphological consequences of hydrocephalus and ventricomegaly
204
Etiology
205
Pathology
206
Genetics of congenital hydrocephalus (and pathogenesis)
208
X-linked hydrocephalus (L1 syndrome and related disorders)
208
Autosomal recessive hydrocephalus
208
Animal models
209
Treatment, future perspective, conclusions
210
References
210
19 Antenatal Disruptive Lesions
215
Definition, major synonyms and historical perspective
215
Normal embryology
216
Epidemiology
216
Clinical features, investigations and important differential diagnosis
216
Pathology
217
Genetics and pathogenesis
217
Animal models and pathogenesis
217
Treatment, future perspective, conclusions
217
References
218
20 Hemorrhagic Lesions
219
Definition, major synonyms and historical perspective
219
Normal development
219
Epidemiology
220
Incidence and prevalence
220
Sex and age distribution
220
Risk factors
220
Clinical features
220
Signs and symptoms
220
Imaging
221
Laboratory findings
221
Differential diagnosis
221
Pathology
221
Macroscopy
221
Histopathology
222
Immunohistochemistry and ultrastructure
223
Pathogenesis and genetics
223
Animal models
224
Treatment, future perspective, conclusions
224
References
225
21 White Matter Lesions in the Perinatal Period
229
Introduction
229
Definition, synonyms and historical annotations
229
Epidemiology
230
Incidence and prevalence
230
Sex and age distribution
230
Risk factors
230
Genetics
231
Clinical features
231
Clinical presentation
231
Imaging
231
Pathology
232
Macroscopy
232
Histopathology
232
Immunohistochemistry
233
Differential diagnosis
234
Experimental models
236
Pathogenesis
236
Future directions and therapy
239
References
240
22 Gray Matter Lesions
245
Definition, major synonyms and historical perspective
245
Normal development
245
Epidemiology and risk factors
246
Clinical features
246
Pathology
246
General features of damaged neurons and accompanying glial changes
246
Patterns of damage in hypoxic–ischemic encephalopathy
248
Pathogenesis and genetics
250
Animal models
251
Treatment, future perspective, conclusions
252
References
252
23 Pediatric Head Injury
257
Definition and historical perspective
257
Epidemiology
257
Clinical features
258
Pathology
258
Perinatal non-abusive head injury
258
Accidental head injury
258
Abusive head trauma in children
261
Animal models
263
Conclusions
263
References
263
24 Pediatric Vascular Malformations
267
Definition
267
Synonyms and historical annotations
267
Epidemiology
267
Incidence and prevalence, sex and age distribution
267
Risk factors
268
Embryology
268
Genetics
269
Clinical features
269
Signs and symptoms
269
Neuroimaging
271
Pathology
271
Macroscopy and histopathology
271
Immunohistochemistry and ultrastructural findings
278
Differential diagnosis
279
Experimental models
279
Future directions and therapy
279
Acknowledgments
281
References
281
25 Sudden Infant Death Syndrome
285
Introduction
285
Definition
285
Synonyms and historical annotations
286
Clinical features
286
Epidemiology
286
Incidence and prevalence
286
Sex and age distribution
286
Risk factors
287
Genetics
288
Pathology
288
Brainstem abnormalities
288
Hippocampal abnormalities
289
Orexin-related abnormalities in the hypothalamus
291
Heavy brain weight
291
Cerebral white matter pathology
291
Hypoxic–ischemic lesions in the brain
291
Pathogenesis
292
A unifying hypothesis of SIDS: defects in the central homeostatic network
292
Future directions
293
Acknowledgments
293
References
293
26 Kernicterus
297
Definition
297
Epidemiology
297
Genetics
297
Clinical features
297
Signs and symptoms
297
Imaging
298
Laboratory findings
298
Macroscopy
298
Histopathology
299
Biochemistry
299
Differential diagnosis
299
Experimental models
299
Future directions and therapy
299
References
299
27 Lesions Induced by Toxins
301
Definition
301
Synonyms and historical aspects
301
Epidemiology
301
Incidence and prevalence
301
Sex and age distinction
302
Risk factors
302
Embryology
302
Genetics
302
Clinical features
302
Fetal alcohol syndrome
302
Nicotine, fetal tobacco exposure
303
Marijuana, opiates, cocaine and amphetamine
303
Lead
303
Mercury
303
Imaging
303
Nicotine, tobacco
303
Synthetic opiates
303
Lead
303
Mercury and fetal alcohol syndrome
303
Laboratory findings
303
Lead
303
Mercury
304
Macroscopy
304
Fetal alcohol syndrome
304
Histopathology
304
Fetal alcohol syndrome
304
Nicotine, tobacco
304
Marijuana, opiates, cocaine and amphetamine
304
Lead
305
Mercury
305
Differential diagnosis
305
Fetal alcohol syndrome
305
Marijuana, opiates, cocaine and amphetamine
305
Lead
305
Mercury
306
Experimental models
306
Pathogenesis
306
Fetal alcohol syndrome
306
Nicotine, cigarette smoking
306
Marijuana, cocaine, opiates, amphetamines
306
Lead
306
Mercury
306
Future directions and therapy
307
References
307
28 Disorders of Carbohydrate Metabolism
309
Introduction
309
Lysosomal diseases
309
Synonyms and historical annotations
309
Epidemiology
312
Embryology
312
Genetics
312
Clinical features
312
Macroscopy
313
Histopathology
313
Immunohistochemistry and ultrastructural findings
314
Biochemistry
314
Differential diagnosis
315
Experimental models
315
Pathogenesis
315
Future directions and therapy
315
Polyglucosan disorders
315
Definition
315
Synonyms and historical annotations
317
Epidemiology
317
Genetics
317
Clinical features
317
Macroscopy
318
Histopathology
318
Immunohistochemistry and ultrastructural findings
319
Biochemistry
319
Differential diagnosis
319
Experimental models
319
Pathogenesis
319
Future directions and therapy
320
Congenital disorders of glycosylation
320
Definitions
320
Synonyms and historical annotations
320
Epidemiology
321
Genetics
321
Clinical features
321
Macroscopy
321
Histopathology
322
Immunohistochemistry and ultrastructural findings
322
Differential diagnosis
322
Biochemistry
323
Experimental models
323
Pathogenesis
323
Treatment
324
References
324
29 Sphingolipidoses and Related Disorders
329
Introduction
329
Sphingolipid synthesis (Table 29.1)
329
Sphingolipid catabolism (Table 29.1)
329
Laboratory diagnosis of sphingolipidoses
330
Specific treatments of sphingolipidoses
330
GM1 Gangliosidosis
334
Definition, Synonyms and Historical Perspective
334
Epidemiology
334
Clinical features
334
Genetics
335
Pathogenesis and animal models
336
Treatment, future perspective and conclusions
336
GM2 gangliosidosis
337
Definition, synonyms and historical perspective
337
Epidemiology
338
Clinical features
338
Pathology
339
Genetics
340
Pathogenesis and animal models
340
Treatment, future perspective and conclusions
340
Fabry disease
341
Definition, synonyms and historical perspective
341
Epidemiology
341
Clinical features
341
Pathology
342
Genetics
343
Pathogenesis and animal models
344
Treatment, future perspective and conclusions
344
Gaucher disease
344
Definition, major synonyms and historical perspective
344
Epidemiology
344
Clinical features
344
Pathology
345
Genetics
347
Animal models and pathogenesis
347
Treatment, future perspective and conclusions
348
Metachromatic leukodystrophy
348
Definition, dynonyms and historical perspective
348
Epidemiology
348
Genetics
348
Clinical features
349
Pathology, histochemistry and ultrastructural findings
349
Biochemistry
350
Differential diagnosis
352
Treatment, future perspective and conclusions
352
Multiple sulfatase deficiency
352
Definition, synonyms and historical perspective
352
Epidemiology
353
Clinical features
353
Pathology
353
Genetics
354
Pathogenesis and animal models
354
Treatment, future perspective and conclusions
354
Globoid-cell leukodystrophy (Krabbe disease)
354
Definition, synonyms and historical perspective
354
Epidemiology
354
Clinical features
354
Neuroimaging
355
Pathology
355
Genetics
357
Animal models and pathogenesis
357
Treatment, future perspective and conclusions
358
Niemann–Pick disease types A and B
358
Definition, synonyms and historical perspective
358
Epidemiology
358
Clinical features
358
Pathology
359
Genetics
359
Pathogenesis and animal models
361
Treatment, future perspective and conclusions
361
Niemann–Pick type C disease
361
Definition, synonyms and historical perspective
361
Epidemiology
361
Clinical features
362
Pathology
363
Genetics
363
Pathogenesis and animal models
363
Treatment, future perspective and conclusions
364
Farber disease
364
Definition, synonyms and historical perspective
364
Epidemiology
364
Clinical features
364
Pathology
365
Genetics
365
Pathogenesis and animal models
365
Treatment, future perspective and conclusions
366
Sphingolipid activator protein deficiency
366
Introduction
366
Sphingolipid activator protein deficiencies
367
Prosaposin deficiency
368
Epidemiology
368
Clinical features
369
Pathology
369
Genetics
371
Treatment, future perspective and conclusions
371
Sphingolipid biosynthesis deficiencies
371
Serine palmytoyl transferase, long-chain base subunit 1 and 2 deficiencies
371
Fatty acid 2-hydroxylase deficiency
372
Ceramide synthase 1 deficiency
372
Ceramide synthase 2 deficiency
373
GM3 synthase deficiency
373
GM2 synthase deficiency
373
References
374
30 The Neuronal Ceroid Lipofuscinoses
385
Introduction
385
CLN1: palmitoyl-protein thioesterase 1 deficiency with granular osmiophilic deposits
388
Definition
388
Synonyms and historical annotations
388
Epidemiology
389
Clinical features
389
Macroscopy
389
Histopathology
389
Ultrastructural findings
390
Biochemistry
390
Diagnosis
390
Genetics
390
Pathogenesis
390
Animal models
390
Future directions and therapy
390
CLN2: Classic late infantile NCL with tripeptidyl-peptidase I deficiency
390
Definition
390
Synonyms and historical annotations
390
Epidemiology
391
Clinical features
391
Macroscopy
391
Histopathology
391
Ultrastructural findings
391
Biochemistry
391
Diagnosis
391
Genetics
392
Pathogenesis
392
Animal models
392
Future directions and therapy
392
CLN3: Juvenile NCL with mutations in the CLN3 gene
392
Definition
392
Synonyms and historical annotations
392
Epidemiology
392
Clinical features
392
Macroscopy
392
Histopathology
392
Ultrastructural findings
393
Biochemistry
393
Diagnosis
393
Genetics
393
Pathogenesis
393
Animal models
393
Future directions and therapy
393
Rare Forms of Neuronal Ceroid Lipofuscinoses
393
CLN4: Adult NCL
393
CLN5: Finnish variant late infantile NCL
393
CLN6: Late infantile/early juvenile variant NCL
394
CLN7: Turkish variant late infantile NCL
394
CLN8: Turkish variant late infantile and northern epilepsy
394
CLN10: Congenital NCL
395
Additional recent forms of neuronal ceroid lipofuscinosis
395
References
395
NCL websites
396
31 Peroxisomal Disorders
397
Definition, major synonyms and historical perspective
397
Normal embryology
398
Epidemiology
398
Incidence and prevalence
398
Clinical features
398
Signs and symptoms
398
Imaging
398
Biochemistry and laboratory findings
399
Differential diagnosis
400
Pathology
400
Macroscopy
400
Histopathology, immunohistochemistry and ultrastructure
400
Genetics and pathogenesis
403
Animal models and pathogenesis
404
Treatment, future perspective, conclusions
405
References
405
Online resources
407
32 Mitochondrial Disorders
409
Definition, major synonyms and historical perspective
409
Embryology
409
Epidemiology
409
Biochemistry
409
Clinical features
410
Neuropathology
410
Central nervous system
410
Leigh syndrome
410
Kearns–Sayre syndrome
410
MELAS
412
MERRF
413
Alpers–Huttenlocher disease
414
Peripheral nervous system
415
Skeletal muscle
415
Genetics
416
Pathogenesis
416
Animal models
416
Future perspectives and therapy
417
References
417
33 Disorders of Amino Acid Metabolism and Canavan Disease
419
Introduction
419
Phenylketonuria
420
Definition and chemistry
420
Epidemiology and genetics
420
Clinical features
420
Laboratory findings
420
Pathological findings
420
Pathogenesis
421
Treatment
421
Nonketotic hyperglycinemia (glycine encephalopathy)
421
Definition and chemistry
421
Epidemiology and genetics
421
Clinical features
421
Imaging findings
421
Laboratory findings
421
Pathological findings
421
Pathogenesis
422
Treatment
422
Homocystinuria and disorders of sulfur amino acids
422
Definition and chemistry
422
Epidemiology and genetics
423
Clinical features
423
Laboratory findings and diagnosis
423
Pathological findings
423
Pathogenesis
423
Treatment
424
Urea cycle disorders
424
Definition and chemistry
424
Epidemiology and genetics
424
Clinical features
424
Laboratory findings
425
Pathological findings
425
Pathogenesis
425
Treatment
425
Maple syrup urine disease
425
Definition and chemistry
425
Epidemiology and genetics
426
Clinical features
426
Laboratory findings
426
Pathological findings
426
Pathogenesis
426
Treatment
426
Propionic and methylmalonic acidemia
426
Definition and chemistry
426
Epidemiology and genetics
426
Clinical features and imaging
426
Laboratory findings
427
Pathological findings
427
Pathogenesis
428
Treatment
428
Canavan disease (spongy leukodystrophy)
428
Definition
428
Epidemiology and genetics
428
Clinical features, diagnosis, and imaging findings
428
Pathology
428
Pathogenesis
429
Treatment
429
References
429
34 Pelizaeus–Merzbacher Disease
433
Definition
433
Historical annotation
433
Epidemiology, sex distribution
433
Genetics
433
The PLP1 gene
433
Detection and characterization of PLP1 duplications
434
Clinical features including appropriate investigations
435
Clinical features
435
Imaging
435
Laboratory findings
435
Pathology
436
Macroscopy
436
Histopathology
436
Immunohistochemical and ultrastructural findings
436
Biochemistry
437
Differential diagnosis
437
Experimental models
437
Pathogenesis
437
Distinct cellular defects underlie the pathogenesis in each form of PMD
438
Hypomyelinating leukodystrophies
439
Future direction and therapy
440
References
440
35 Cockayne Syndrome
443
Definition, major synonyms and historical perspective
443
Incidence and prevalence
443
Clinical features
444
Clinical presentation
444
Biochemistry
445
Imaging
445
Differential diagnosis
445
Pathology
446
Systemic pathology
446
Neuropathology
446
Genetics
446
Cellular and molecular biology
447
Pathogenesis
449
Animal models
449
Treatment, future perspective, conclusions
450
Treatment
450
Future perspectives
450
Conclusions
450
References
450
36 Vanishing White Matter Disease
453
Definition
453
Synonyms and historical annotations
453
Epidemiology
453
Incidence and prevalence
453
Sex and age distribution
453
Risk factors
453
Genetics
453
Clinical features
454
Signs and symptoms
454
Imaging
454
Laboratory findings
454
Pathologic findings
454
Macroscopy
454
Histopathology, immunohistochemistry and ultrastructure
455
Differential diagnosis
459
Experimental models
460
Pathogenesis
460
Future directions and therapy
460
References
460
37 Alexander Disease
463
Definition
463
Synonyms and historical annotations
463
Epidemiology
463
Embryology
463
Genetics
463
Clinical features
465
Signs and symptoms
465
Imaging
465
Laboratory findings
465
Macroscopy
466
Histopathology
466
Immunohistochemistry and ultrastructural findings
466
Biochemistry
467
Differential diagnosis
467
Experimental models
468
Pathogenesis
468
Future directions and therapy
469
References
469
38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation
471
Definition
471
Normal embryology
471
Epidemiology
471
Clinical features
471
Pathology
475
Genetics
478
Animal models
481
Treatment, future perspective, conclusions
482
References
482
39 Spinal Muscular Atrophy
485
Definition and classification
485
Epidemiology
485
Genetics
485
Clinical features
486
SMA type 1 (Werdnig–Hoffman disease)
486
SMA type 2
486
SMA type 3 (Kugelberg–Welander disease)
486
Pathology
487
Muscle pathology
487
Macroscopic neuropathology
487
Microscopic neuropathology
487
Differential diagnosis
488
Animal models
488
Pathogenesis
489
Management and future directions
490
Atypical forms of SMA
490
Infantile spinal muscular atrophy with respiratory distress type 1
490
SMA with cerebellar hypoplasia
490
Brown–Vialetto–van Laere syndrome, bulbar hereditary neuropathy type 1
490
Fazio–Londe disease, bulbar hereditary neuropathy type 2
490
References
491
40 Autism Spectrum Disorders
493
Definition, major synonyms and historical perspective
493
Epidemiology
493
Clinical features
493
Epilepsy comorbidity
493
Mitochondrial disease
494
Autoimmune disease and maternal–fetal antibodies
494
In utero infections
494
Microbiome
494
Pathology
495
Neuropathology of idic(15) and undefined ASD
495
Megalencephaly and microcephaly in ASD
496
Cerebral cortex
497
Cerebellum
497
Neurotransmitter systems
497
Microdeletion/microduplication syndromes
502
Single-gene disorders
504
Treatment, future perspective, conclusions
505
References
506
Online resources
511
41 Intrauterine Infections
513
Introduction
513
Cytomegalovirus
513
Definition and synonyms
513
Epidemiology
513
Clinical features
513
Macroscopy
514
Histopathology
514
Differential diagnosis
514
Pathogenesis
514
Future directions and therapy
515
Herpes simplex virus
515
Definition
515
Epidemiology
515
Clinical features
516
Pathology
516
Therapy
516
Toxoplasmosis
516
Definition
516
Epidemiology
516
Clinical features
517
Histopathology
517
Differential diagnosis
517
Pathogenesis
517
Future directions and therapy
517
Rubella
518
Definition and synonyms
518
Epidemiology
518
Clinical features
519
Macroscopy
519
Histopathology
519
Pathogenesis
519
Future directions and therapy
519
Varicella
519
Definition and synonyms
519
Epidemiology
519
Clinical features
520
Pathology
520
Pathogenesis
520
Therapy
520
Human immunodeficiency virus (HIV)
520
Enteroviruses
520
Parvovirus B19
520
Zika virus
520
Syphilis
521
Listeriosis
521
Tuberculosis
521
Other infections
522
Differential diagnosis
522
References
522
42 Perinatal and Postnatal Infections
527
Introduction
527
Definition
527
Historical perspective
527
Background
527
Routes of infection
528
Host factors influencing an infection
528
Bacterial infections
529
Neonatal bacterial meningitis
529
Postnatal bacterial meningitis
529
Intracranial epidural abscess
531
Spinal epidural abscesses
531
Brain abscess
531
Tuberculous meningitis
532
Tuberculoma
533
Epidural spinal tuberculous abscesses
533
Borrelia burgdorfi infection
533
Rickettsia ricketsii infection
533
Viral infections
534
Herpes simplex infections
534
Enteroviral infections
535
HIV infection
536
Cytomegalovirus infection
537
Progressive multifocal leukoencephalopathy
537
Measles infections
537
Progressive rubella panencephalitis
539
Arbovirus infections
539
Rabies infection
540
Varicella zoster virus
540
Ebola virus
540
Post-infectious syndromes
540
CNS mycosis
540
Aspergillus infection
540
Candida albicans infection
540
Coccidioidomycosis, sporotrichosis, blastomycosis, paracoccidioidomycosis infections
541
Parasitic infections
541
Neurocysticercosis
541
Hydatid disease, echinococcosis
541
Schistosomiasis, toxocariasis, trichinosis
542
Malaria
542
Amoebiasis
542
Toxoplasmosis
542
Trypanosomiasis
542
Acknowledgments
543
References
543
43 Rasmussen Encephalitis
547
Definition
547
Synonyms and historical annotations
547
Epidemiology
547
Genetics
547
Clinical features
547
Clinical presentation
547
Imaging
547
Neuropathology
548
Macroscopy
548
Histopathology
548
Immunohistochemical and ultrastructural findings
549
Differential diagnosis
550
Pathogenesis
550
Future directions and therapy
551
References
551
Index
553
EULA
563
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