Pediatric Neurology, Part I

Cover......Page 1
Preface......Page 2
Brain development and the genetics of brain development......Page 4
Nervous system segmentation......Page 5
Disorders of segmentation......Page 6
Holoprosencephaly......Page 7
Septo-optic dysplasia......Page 9
Cell proliferation......Page 10
Microcephaly......Page 11
Megalencephaly and hemimegalencephaly......Page 12
Normal migration......Page 13
Lissencephaly......Page 14
LIS1 genetic syndromes......Page 15
X-linked lissencephaly......Page 16
Lissencephaly with cerebellar hypoplasia......Page 17
Cobblestone lissencephaly......Page 18
Polymicrogyria......Page 19
Heterotopias......Page 20
Summary......Page 21
References......Page 22
Tuberous sclerosis complex......Page 27
Seizures......Page 28
Autism......Page 29
Hypomelanotic macules......Page 31
Angiofibromas......Page 32
Other clinical findings in tuberous sclerosis complex......Page 34
Neuroimaging of tuberous sclerosis complex......Page 35
Genetic aspects of tuberous sclerosis complex......Page 37
Diagnosis of tuberous sclerosis complex......Page 39
Neurofibromatosis type 1......Page 40
Cafe ´au lait spots and skinfold freckling......Page 41
Plexiform neuro fibromas......Page 42
Tumors......Page 43
Cognitive problems......Page 44
Neuroimaging in neurofibromatosis type 1......Page 45
Management of neurofibromatosis type 1......Page 47
References......Page 48
Diffusion-weighted magnetic resonance imaging......Page 51
Noninvasive vascular imaging:magnetic resonance angiography and magnetic resonance venography......Page 54
Magnetic resonance spectroscopy......Page 55
Neoplasms......Page 59
Metabolic diseases and white matter diseases......Page 60
Cortical activation (functional MRI)imaging in children......Page 61
Advanced computerized tomography applications......Page 62
Nuclear medicine single photon emission computed tomography/positron emission tomography brain imaging......Page 63
Catheter angiography......Page 65
References......Page 66
HIV-1 infection and AIDS......Page 68
A changing epidemic......Page 69
AIDS orphans......Page 71
Sexual transmission......Page 73
Natural history......Page 74
Neurologic disorders......Page 75
Progressive encephalopathy......Page 76
Neurodevelopmental status......Page 77
Changing neuroepidemiology......Page 78
Neuropathologic findings......Page 79
Neuropathophysiologic mechanisms......Page 80
Neuropathologic findings and the developing brain......Page 81
Secondary central nervous system complications......Page 82
Cerebrovascular complications......Page 83
Management and therapy......Page 84
Antiretroviral agents......Page 85
Pain syndromes......Page 86
Summary......Page 88
References......Page 90
Definitions and overview......Page 97
Pathophysiology of bacterial meningitis......Page 98
The use of corticosteroids in bacterial meningitis......Page 101
The changing etiology and epidemiology of bacterial meningitis in children......Page 103
Lymphocytic choriomeningitis virus......Page 106
West Nile virus encephalitis......Page 111
Human herpesvirus-6 infection,febrile seizures,and encephalitis......Page 113
Acknowledgments......Page 115
References......Page 116
Epidemiology......Page 123
Clinical manifestations......Page 124
Diagnosis......Page 125
Prevention,treatment,and prognosis......Page 126
Clinical manifestations......Page 128
Prevention,treatment,and prognosis......Page 129
Epidemiology......Page 130
Diagnosis......Page 132
Prevention,treatment,and prognosis......Page 133
Prevention,treatment,and prognosis......Page 134
Clinical manifestations......Page 135
Epidemiology......Page 136
Prevention,treatment,and prognosis......Page 137
Diagnosis......Page 138
Conditions that mimic congenital viral infections......Page 139
References......Page 140
Venous anatomy......Page 145
Clinical presentation......Page 146
Radiographic features......Page 147
Risk factors for cerebral venous thrombosis......Page 148
Treatment......Page 151
Outcome......Page 152
Clinical features......Page 153
Treatment and outcome......Page 154
Treatment and outcome......Page 155
Clinical features......Page 156
References......Page 157
Epidemiology......Page 162
Congenital heart disease......Page 163
Moyamoya disease......Page 168
Cerebral vasculitis......Page 171
Drugs......Page 172
Genetic and metabolic causes......Page 173
Atherosclerotic cerebrovascular disease......Page 174
Treatment and outcome in children with arterial ischemic stroke......Page 175
Arteriovenous malformations......Page 176
Hereditary and acquired coagulation disorders......Page 177
Miscellaneous......Page 178
References......Page 179
Movement disorders in children and adolescents......Page 184
Tourette syndrome and the Tourette spectrum disorders......Page 185
Epidemiology of tics and tic disorders......Page 186
Causes of tics and Tourette syndrome......Page 187
Treatment of Tourette syndrome......Page 188
Clinical management of Tourette syndrome......Page 190
Sydenham chorea......Page 191
Relation to rheumatic fever......Page 192
Immunopathogenesis of Sydenham chorea:new developments......Page 193
Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections......Page 195
Drug-induced movement disorders......Page 197
References......Page 199
Rett syndrome Current status and new vistas......Page 208
Clinical characteristics......Page 209
Variant phenotypic expression......Page 211
Longevity......Page 212
Breathing irregularities......Page 213
Gastrointestinal function......Page 214
Other associated features......Page 215
Genetic basis of Rett syndrome......Page 216
MeCP2 function in developmental neurobiology......Page 218
References......Page 220
Diagnosis and treatment of neurotransmitter-related disorders......Page 225
6-Pyruvoyltetrahydropterin synthase (6-PTS or 6-PTPS) deficiency......Page 227
Autosomal recessive guanosine triphosphate cyclohydrolase deficiency......Page 229
Neurotransmitter deficiency states without hyperphenylalaninemia......Page 230
Segawa ’s disease,or autosomal dominant dopa-responsive dystonia......Page 231
Sepiapterin reductase (SPR) deficiency......Page 232
Tyrosine hydroxylase deficiency,infantile parkinsonism, or autosomal recessive dopa-responsive dystonia......Page 233
Dopamine beta-hydroxylase deficiency......Page 234
Monoamine oxidase A deficiency......Page 235
Succinic semialdehyde dehydrogenase deficiency......Page 236
Secondary neurotransmitter deficiency states......Page 237
Approach to treatment in patients with neurotransmitter deficiency states......Page 238
Neurologic disorders characterized by excess neurotransmitter levels:nonketotic hyperglycinemia and leukoencephalopathy with vanishing white matter......Page 239
References......Page 240
Topiramate......Page 244
Vigabatrin......Page 245
Oxcarbazepine......Page 247
Gabapentin......Page 248
Levetiracetam......Page 249
Zonisamide......Page 251
Lamotrigine......Page 252
Tiagabine......Page 254
Felbamate......Page 255
Fosphenytoin......Page 256
Summary......Page 257
References......Page 258
Intractable pediatric epilepsy: Vagal nerve stimulation and the ketogenic diet......Page 264
Vagal nerve stimulation......Page 265
Surgical considerations and complications......Page 266
The ketogenic diet......Page 267
Efficacy of the ketogenic diet......Page 268
Mechanism of action......Page 269
Ketogenic diet formulation......Page 270
Complications of ketogenic diet use......Page 272
References......Page 273
Epilepsy surgery Presurgical evaluation......Page 276
Surgical outcomes......Page 277
Seizure semiology......Page 278
Temporal lobe onset......Page 279
Physical examination......Page 280
Video-electroencephalogram monitoring......Page 281
Video-electroencephalogram monitoring and antiepileptic drug withdrawal......Page 282
Magnetic resonance imaging (MRI)......Page 283
Positron emission tomography......Page 285
Neuropsychologic evaluation......Page 286
Intracranial electroencephalograph......Page 287
One-stage operative strategy......Page 289
Summary......Page 290
References......Page 291