Neurology of the Newborn, 5e

Cover......Page 1
Dedication
......Page 2
Preface to the Fifth Edition......Page 8
Preface to the First Edition......Page 10
Acknowledgments......Page 12
Normal Development......Page 15
Primary Neurulation......Page 16
Timing and Clinical Aspects......Page 17
Anatomical Abnormality......Page 19
Timing and Clinical Aspects......Page 20
Clinical Aspects......Page 21
Hydrocephalus......Page 22
Chiari Type II Malformation......Page 23
Management......Page 24
Myelomeningocele......Page 25
Orthopedic and Urinary Tract Complications......Page 26
Results of Therapy......Page 27
Etiology: Genetic and Environmental Considerations......Page 28
Primary Prevention......Page 29
Anatomical Abnormality......Page 31
Timing......Page 32
Management......Page 33
Normal Development......Page 34
Anatomical Abnormality......Page 35
Anatomical Abnormality......Page 36
Etiology: Genetic Considerations......Page 38
Anatomical Abnormality......Page 41
Clinical Aspects......Page 43
Timing......Page 45
Management and Outcome......Page 46
Conclusions......Page 48
Disorders......Page 49
Clinical aspects......Page 50
Joubert Syndrome-Related Disorders and the ‘‘Molar Tooth’’ Malformation......Page 51
Posterior Fossa Cerebrospinal Fluid Collections......Page 52
REFERENCES......Page 53
Normal Development......Page 63
Micrencephaly......Page 66
Anatomical Abnormality: Radial Microbrain......Page 67
Etiology: Other Disorders......Page 68
Timing and Clinical Aspects......Page 70
Familial, Isolated Macrencephaly......Page 71
Neurocutaneous Syndromes......Page 72
Normal Development......Page 75
Migration to Cerebral Cortex......Page 76
Disorders......Page 79
Corpus Callosum Defect in Migrational Disorders......Page 80
Timing and Clinical Aspects......Page 81
Anatomical Abnormality......Page 82
Clinical Aspects: Type I Lissencephaly......Page 83
Etiology/Genetics: Type 1 Lissencephaly......Page 86
Clinical Aspects: Type II Lissencephaly......Page 87
Anatomical Abnormality......Page 89
Clinical Aspects......Page 90
Anatomical Abnormality......Page 91
Timing and clinical aspects......Page 92
Agenesis of the Corpus Callosum, Abnormality of Septum Pellucidum, and Colpocephaly......Page 93
Subplate Neurons......Page 94
Lamination and Neurite Outgrowth......Page 95
Synaptic Development......Page 97
Cell Death and Selective Elimination of Neuronal Processes and Synapses......Page 98
Glial Proliferation and Differentiation......Page 100
Mental Retardation with or without Seizures......Page 102
Rett Syndrome......Page 103
Angelman Syndrome......Page 104
Premature Infants......Page 105
Other Perinatal and Postnatal Insults......Page 107
Oligodendroglial Development......Page 108
Myelination in Human Brain Regions......Page 109
Disorders......Page 110
Prematurity......Page 111
Hypothyroidism......Page 112
Associated Disturbance......Page 113
REFERENCES......Page 114
External Characteristics......Page 133
Skin......Page 134
Head Size and Shape......Page 135
Rate of Head Growth......Page 136
Olfaction (I)......Page 138
Visual Acuity, Color, and Other Discriminations......Page 139
Pupils (III)......Page 140
Audition (VIII)......Page 141
Tongue Function (XII)......Page 142
Motility and Power......Page 143
Plantar Response......Page 144
Moro Reflex......Page 145
Abnormalities of Level of Alertness......Page 146
Optic Disc Hypoplasia or Atrophy......Page 147
Pupils......Page 148
Abnormal Eye Position......Page 149
Limitation of Eye Movement......Page 150
Cerebrum......Page 151
Audition......Page 152
Low Birth Weight......Page 153
Sucking and Swallowing......Page 154
Sternocleidomastoid Function......Page 155
Parasagittal Cerebral......Page 156
Jitteriness......Page 157
Abnormalities of the Sensory Examination......Page 158
Evaluation of Cerebral Function......Page 159
Role in Estimating Prognosis......Page 160
White Blood Cell, Protein, and Glucose Concentrations......Page 166
NEUROPHYSIOLOGICAL STUDIES......Page 167
Developmental Changes......Page 168
Detection of Disorders of the Auditory Pathways......Page 169
Developmental Changes......Page 170
Detection of Disorders of the Visual Pathway......Page 171
Somatosensory Evoked Responses......Page 172
36 to 37 Weeks......Page 173
Excessively Discontinuous Activity......Page 176
Unilateral Depression of Background Activity......Page 177
Periodic Discharges......Page 179
Hypsarrhythmia......Page 180
Assessment of Asphyxiated Term Infants......Page 181
Magnetic Resonance Imaging......Page 184
Disorders......Page 185
Normal Intracranial Pressure......Page 187
Pathological States......Page 188
Cerebral Blood Flow Velocity Monitoring......Page 189
Outline placeholder......Page 0
Relation of Cerebral Blood Flow Velocity to Cerebral Blood Flow and to Cerebrovascular Resistance......Page 190
Clinical Value of Doppler Measurements......Page 191
Basic Principles and Determinations......Page 193
Quantitative Determinations of Oxygenated Hemoglobin, Deoxygenated Hemoglobin, Cerebral Blood Volume, Cerebral Blood Flow, Cerebral Venous Oxygen Saturation, and Cytochrome Oxidase in the Newborn......Page 195
Value of Near-Infrared Spectroscopy in Specific Clinical Situations......Page 196
PHYSIOLOGICAL BRAIN IMAGING......Page 197
Magnetic Resonance Spectroscopic Studies in Neonatal Humans......Page 198
Normal Regional and Developmental Aspects......Page 200
Functional Magnetic Resonance Imaging......Page 202
REFERENCES......Page 203
Neuroanatomical and Neurophysiological Substrates......Page 215
Neurophysiological Features......Page 216
Energy Metabolism......Page 218
Prolonged Seizures......Page 219
CLINICAL ASPECTS......Page 222
Subtle......Page 223
Tonic......Page 224
Myoclonic......Page 225
Pathophysiology......Page 226
Does Absence of Electroencephalographic Seizure Activity Indicate that a Clinical Seizure is Nonepileptic?......Page 227
Primary Subarachnoid Hemorrhage......Page 228
Hypoglycemia......Page 229
Local Anesthetic Intoxication......Page 230
Other Metabolic Disturbances......Page 231
Benign Familial Neonatal Seizures......Page 233
Malignant Migrating Partial Seizures of Infancy......Page 234
Electroencephalogram......Page 235
Major Electroencephalographic Correlates of Neonatal Seizures......Page 236
Overall......Page 237
Relation to the Neurological Disease......Page 241
Adequacy of Treatment......Page 242
Phenobarbital......Page 243
Phenytoin-Fosphenytoin......Page 244
Midazolam......Page 245
Toward More Rational Therapy: Promising Future Drugs......Page 246
Maintenance Therapy......Page 247
Duration of Therapy......Page 248
REFERENCES......Page 249
Glucose Uptake......Page 259
Glycogen Metabolism......Page 260
Major Changes......Page 261
Mechanisms......Page 263
Major Changes......Page 264
Secondary Energy Failure......Page 265
Major Changes......Page 266
Importance of Endogenous Brain Glucose Reserves......Page 268
Importance of Severe Lactic Acidosis in Brain......Page 269
Beneficial(?) Role of Abundant Brain Glucose in Perinatal Animals......Page 270
Influence of Maturation on Glucose and Energy Metabolism with Hypoxia-Ischemia......Page 271
Birth as an Additive or Potentiating Factor in Hypoxic Injury......Page 272
Importance of the Mode of Cell Death (Necrosis-Apoptosis)......Page 273
Initiating Role of Energy Failure......Page 274
Mechanisms......Page 275
Free Radicals......Page 276
Reactive Oxygen Species......Page 277
Nitric Oxide and Reactive Nitrogen Species......Page 279
Normal Features......Page 280
Role of Glutamate in Hypoxic-Ischemic Cell Death in Cultured Neurons......Page 282
Relevance of Glutamate-Induced Excitotoxicity to Hypoxic-Ischemic Injury In Vivo......Page 283
Perinatal Models of Hypoxic-Ischemic Injury......Page 285
Interventions for Prevention of Neurons from Hypoxic-Ischemic Injury......Page 286
Decrease in Energy Depletion......Page 287
Blockade of Glutamate Receptors......Page 289
Blockade of Downstream Effects......Page 290
Inhibition of Inflammatory Effects......Page 291
Intrinsic Vulnerability of Early Differentiating Oligodendroglia to Hypoxic-ischemic Injury......Page 292
Innate Immunity and the Relation of Systemic Inflammation to the Brain......Page 293
Hypoxia-Ischemia and Maternal/Fetal Infection: Potentiating Insults......Page 294
Microglia as a Convergence Point in the Potentiation of White Matter Injury by Infection or Inflammation and Hypoxia-Ischemia......Page 295
Reactive Oxygen Species Toxicity......Page 296
Reactive Nitrogen Species Toxicity......Page 297
Sources of Glutamate......Page 298
Glutamate Receptors......Page 299
Prevention of Infection or Inflammation......Page 301
Blockade of Downstream Effects......Page 302
Coupling of Cerebral Function, Metabolism, and Blood Flow......Page 303
Regional Effects......Page 304
Regulation......Page 305
Increase in Cerebral Blood Flow......Page 308
Postasphyxial-Postischemic Effects......Page 309
Changes Immediately after Delivery......Page 311
Autoregulation......Page 312
Carbon Dioxide......Page 314
Neuronal Activity (Seizure)......Page 315
Impaired Vascular Reactivity and Cerebral Hyperemia......Page 316
REFERENCES......Page 317
Maturational Changes......Page 337
Fetal Heart Rate: Nonstress and Stress Tests......Page 338
Fetal Biophysical Profile......Page 339
Fetal Growth......Page 340
Umbilical Artery......Page 341
Fetal Cerebral Vessels......Page 342
INTRAPARTUM ASSESSMENT......Page 343
Meconium Passage In Utero......Page 344
Rate......Page 345
Accelerations......Page 346
Late Type......Page 347
Relation of Fetal Heart Rate Abnormalities to Neonatal Neurological Course and Subsequent Outcome......Page 348
Fetal Acid-Base Status......Page 349
Alterations in Fetal Acid-Base Measurements and Later Neurological Outcome......Page 350
Fetal Electroencephalogram......Page 351
Near-Infrared Spectroscopy......Page 352
REFERENCES......Page 353
Pathological Aspects in Human Infants......Page 359
Selective Neuronal Necrosis......Page 360
Cellular Aspects......Page 361
Cerebral Cortex......Page 362
Cerebral-Deep Nuclear Neuronal Injury......Page 363
Pontosubicular Neuronal Necrosis......Page 364
Cerebral Ischemia, Impaired Cerebrovascular Autoregulation, and Pressure-Passive Cerebral Circulation......Page 365
Regional Metabolic Factors......Page 366
Factors Related to the Hypoxic-Ischemic Insult......Page 367
Cellular and Regional Aspects......Page 368
Parasagittal Vascular Anatomical Factors......Page 370
Periventricular Leukomalacia......Page 371
Cellular and Regional Aspects......Page 375
Hemorrhage......Page 377
Quantitative Magnetic Resonance Imaging Studies......Page 378
Neuropathological Studies......Page 379
Potential Mechanisms Underlying the Relationship of PVL to Neuronal Deficits......Page 381
Ischemia......Page 382
Periventricular Vascular Anatomical and Physiological Factors......Page 383
Cerebral Ischemia, Impaired Cerebrovascular Autoregulation, and Pressure-Passive Cerebral Circulation......Page 384
Human Neuropathological Observations......Page 386
Infection and Hypoxia-Ischemia-Potentiating Insults......Page 387
Human Disease: Evidence Supporting Potentiation by Infection/Inflammation and Hypoxia-Ischemia......Page 388
Vulnerability to Free Radical Attack......Page 389
Vulnerability to Excitotoxicity......Page 390
Cellular and Regional Aspects......Page 391
Factors Determining the Propensity to Cavitation......Page 393
Major Causes of Ischemic Focal and Multifocal Brain Destruction......Page 394
Focal and Multifocal Cerebrovascular Insufficiency......Page 395
REFERENCES......Page 400
CLINICAL SETTINGS......Page 412
NEUROLOGICAL SYNDROME......Page 413
Birth to 12 Hours......Page 414
24 to 72 Hours......Page 415
History......Page 416
Metabolic Parameters......Page 417
Electroencephalogram......Page 418
Computed Tomography......Page 420
Ultrasound......Page 422
Magnetic Resonance Imaging......Page 426
Cerebral Metabolic-Hemodynamic Neurodiagnostic Studies......Page 439
Phosphorus Magnetic Resonance Spectroscopy......Page 440
Positron Emission Tomography......Page 441
Neonatal Correlates......Page 442
Long-Term Correlates......Page 443
Neonatal Correlates......Page 445
Long-Term Correlates......Page 446
Neonatal Correlates......Page 448
Long-Term Correlates......Page 449
Prematurity......Page 450
Apgar Scores, Fetal Acidosis, and Neonatal Resuscitation......Page 451
Specific Aspects......Page 452
Electroencephalography and Evoked Potentials......Page 454
Computed Tomography......Page 455
Magnetic Resonance Imaging......Page 456
Magnetic Resonance Spectroscopy......Page 458
Measurement of Cerebral Blood Flow Velocity, Cerebral Blood Volume, or Cerebral Blood Flow......Page 459
Hypoxemia......Page 460
Hyperoxia......Page 461
Hypocarbia......Page 462
Recognition of Pressure-Passive Cerebral Circulation......Page 463
Recognition of Normal Arterial Blood Pressure Levels in the Newborn......Page 465
Avoidance of Systemic Hypotension......Page 466
Maintenance of Adequate Glucose Levels......Page 467
Control of Seizures......Page 468
Consideration of Therapies for Brain Swelling......Page 470
Magnesium......Page 471
Hypothermia......Page 472
Conclusions......Page 473
REFERENCES......Page 474
Three Major Steps......Page 495
Cerebrospinal Fluid Findings of Intracranial Hemorrhage......Page 496
SUBDURAL HEMORRHAGE......Page 497
Tentorial Laceration......Page 498
Pathogenesis......Page 499
Cerebral Convexity Subdural Hemorrhage......Page 501
Computed Tomography, Magnetic Resonance Imaging, and Ultrasound Scans......Page 502
Prognosis......Page 503
Tentorial and Falx Lacerations, Occipital Osteodiastasis, and Posterior Fossa Subdural Hematoma......Page 504
Neuropathology......Page 505
CEREBELLAR HEMORRHAGE......Page 506
Neuropathology......Page 507
Increased Venous Pressure, Compliant Skull......Page 508
Disturbed Coagulation......Page 509
Diagnosis......Page 510
Prognosis......Page 511
Management......Page 512
Neuropathology......Page 513
Prognosis......Page 514
Trauma......Page 515
Neonatal Isoimmune Thrombocytopenia......Page 516
Congenital Deficiency of Coagulation Factors......Page 517
Aneurysm......Page 518
Arteriovenous Malformation......Page 519
Patient Selection and Technique......Page 520
Intracranial Hemorrhage......Page 521
Pathogenesis of Intracranial Hemorrhage with Extracorporeal Membrane Oxygenation......Page 522
REFERENCES......Page 523
Arterial Supply to Subependymal Germinal Matrix......Page 529
Venous Drainage of Subependymal Germinal Matrix......Page 530
Spread of Intraventricular Hemorrhage......Page 531
Periventricular Hemorrhagic Infarction......Page 532
Hydrocephalus......Page 534
Periventricular Leukomalacia......Page 535
Fluctuating Cerebral Blood Flow......Page 536
Elevations of Arterial Blood Pressure and Pressure-Passive Cerebral Circulation......Page 537
Causes of Increased Arterial Blood Pressure in the Human Newborn......Page 538
Relevant Experimental Studies: Role of Hyper tension......Page 539
Hypercarbia......Page 540
Increases in Cerebral Venous Pressure......Page 541
Respiratory Disturbances......Page 542
Importance of Pressure-Passive Cerebral Circulation......Page 543
Perinatal Hypoxic-Ischemic Events......Page 544
Platelet and Coagulation Disturbances......Page 545
Tenuous Vascular Integrity......Page 546
Vulnerability to Hypoxic-Ischemic Injury......Page 547
Deficient Vascular Support......Page 548
CLINICAL FEATURES......Page 549
Clinically Silent Syndrome......Page 550
Identification of the Hemorrhage......Page 551
Severity of Hemorrhage......Page 553
Positron Emission Tomography......Page 554
Short-Term Outcome: Mortality Rates and Progressive Ventricular Dilation......Page 555
Outcome as a Function of Severity of Intraparenchymal Echodensity......Page 556
Major Factors......Page 557
Periventricular White Matter Injury Secondary to Blood Products......Page 558
MANAGEMENT......Page 559
Prenatal Pharmacological Interventions......Page 560
Optimal Management of Labor and Delivery......Page 561
Correction of Fluctuating Cerebral Blood Flow Velocity......Page 562
Correction or Prevention of Other Major Hemodynamic Disturbances......Page 563
Indomethacin......Page 564
Etamsylate......Page 566
Vitamin E......Page 567
Maintenance of Cerebral Perfusion......Page 568
Pathogenesis......Page 569
Reasons for Ventricular Dilation Before Rapid Head Growth......Page 570
Human Studies......Page 571
Prevention......Page 574
Natural History......Page 575
Four Basic Groups for Management......Page 576
Serial Lumbar Punctures......Page 577
Carbonic Anhydrase Inhibitors......Page 579
Rapidly Progressive Ventricular Dilation......Page 580
Direct External Ventricular Drains......Page 581
Subcutaneous Ventricular Catheter with a Reservoir......Page 582
Arrested Progression: Spontaneous Arrest of Ventricular Dilation or Arrest Following Lumbar Puncture or Drugs That Decrease Cerebrospinal Fluid Production......Page 583
Rational Sequence for Management of Survivors of Intraventricular Hemorrhage......Page 584
REFERENCES......Page 585
DEFINITION......Page 603
Brain as the Primary Determinant of Glucose Production......Page 604
Glucose Uptake......Page 605
Pyruvate......Page 606
Glucose as the Primary Metabolic Fuel for Brain......Page 607
Limitations of Hepatic Ketone Synthesis......Page 608
Major Biochemical Changes......Page 609
Dissociation of Impaired Brain Function and Energy Metabolism......Page 610
Intracellular Calcium and Cell Injury with Hypoglycemia......Page 611
Similarities and Differences in Changes in Newborn and Adult Brain......Page 612
Role for Excitotoxic Amino Acids in Hypoglycemic Neuronal Death......Page 613
Hypoglycemia and Hypoxemia......Page 614
Enhanced Vulnerability of Hypoglycemic Brain to Ischemic Insult......Page 615
Hypoglycemia and Seizures......Page 616
Neonatal Neuropathology......Page 617
CLINICAL ASPECTS......Page 618
Clinical Categorization of Neonatal Hypoglycemia......Page 619
Severe Recurrent Hypoglycemia......Page 620
Brain Imaging in Neonatal Hypoglycemia......Page 621
Relation of Neurological Outcome to Neonatal Neurological Features......Page 622
When to Treat......Page 625
How to Treat......Page 626
REFERENCES......Page 627
Production......Page 631
Excretion......Page 632
Definition......Page 633
Interrelationships of Bilirubin, Albumin, and Hydrogen Ion......Page 634
Free Bilirubin......Page 635
Affinity of Newborn Albumin for Bilirubin......Page 636
Concentration of Hydrogen Ions: Acidosis......Page 637
Bilirubin Transport across an Intact Blood-Brain Barrier......Page 638
Bilirubin Transport across a Disrupted Blood-Brain Barrier......Page 639
Spectrum of Effects of Bilirubin on Cellular Functions......Page 641
Potential Sequence for Bilirubin Neurotoxicity......Page 642
Final Common Pathway to Cell Death......Page 643
Bilirubin Staining......Page 644
Relation to Hypoxic-Ischemic Injury......Page 645
Acute Bilirubin Encephalopathy-Kernicterus......Page 646
Major Features and Temporal Evolution......Page 647
Auditory Abnormalities......Page 648
Neurological Sequelae in Term Infants without Marked Hyperbilirubinemia......Page 649
Neurological Sequelae in Premature Infants without Marked Hyperbilirubinemia......Page 650
Serum Bilirubin Measurements......Page 651
Brain Stem Auditory Evoked Responses and Other Electrophysiological Measures......Page 652
Magnetic Resonance Imaging......Page 653
Surveillance and Early Detection......Page 654
Phototherapy......Page 655
Other Therapies......Page 656
REFERENCES......Page 658
Enzymatic Defect and Essential Consequences......Page 664
Biochemical Effects of Excess Branched-Chain Amino Acids or Ketoacids, or Both......Page 665
Clinical Features......Page 666
Metabolic Features......Page 667
Prevention......Page 668
Acute Therapy......Page 669
Long-Term Therapy......Page 670
Normal Metabolic Aspects......Page 671
Enzymatic Defect and Essential Consequences......Page 672
Clinical Features......Page 673
Metabolic Features......Page 676
Neuropathology......Page 677
Benzodiazepines......Page 678
Major Sources and Fates of Ammonia......Page 679
Biochemical Effects of Excessive Ammonia......Page 680
Clinical Features......Page 682
Neuropathology......Page 683
Clinical Features......Page 684
Metabolic Features......Page 686
Organic Acid Disorders......Page 687
Clinical Features......Page 688
Early Detection......Page 689
Gene Therapy......Page 690
REFERENCES......Page 691
Acidosis......Page 698
Hyperammonemia......Page 699
Myelin Disturbance and Fatty Acid Abnormalities......Page 700
Disturbances of Fatty Acid Synthesis......Page 701
Neuropathology......Page 702
Methylmalonic Acidemias......Page 704
Enzymatic Defects......Page 705
Neuropathology......Page 706
Normal Metabolic Aspects......Page 707
Relation to Acute Neurological Dysfunction and to Neuropathology......Page 708
Clinical Features......Page 709
Enzymatic Defects......Page 710
Antenatal Diagnosis......Page 711
Clinical Features......Page 712
Long-Term Therapy......Page 713
Clinical Features......Page 714
Acute and Long-Term Therapy......Page 715
Mevalonic Aciduria......Page 716
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency......Page 717
Holocarboxylase Synthetase Deficiency......Page 718
Multiple Acyl-Coenzyme A Dehydrogenase Deficiency: Glutaric Acidemia Type II......Page 719
Glutaric Acidemia Type I......Page 720
Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency......Page 721
REFERENCES......Page 722
Tay-Sachs Disease......Page 728
Congenital Neuronal Ceroid-Lipofuscinosis......Page 729
Alpers Disease......Page 731
Menkes Disease......Page 732
Niemann-Pick Disease......Page 734
Infantile Sialic Acid Storage Disease (and Sialidoses)......Page 735
Canavan Disease......Page 736
Alexander Disease......Page 737
Pelizaeus-Merzbacher Disease......Page 739
DISORDERS AFFECTING BOTH GRAY AND WHITE MATTER......Page 742
Zellweger Syndrome......Page 744
Leigh Syndrome and Other Mitochondrial Encephalopathies......Page 746
Congenital Disorders of Glycosylation Type 1a (Carbohydrate-Deficient Glycoprotein Syndromes)......Page 748
Pontocerebellar Hypoplasia Type 2......Page 749
REFERENCES......Page 750
Basal Ganglia......Page 759
Peripheral Nerve......Page 760
Early Histochemical Differentiation......Page 761
Contractile Elements......Page 762
Fatty Acid Utilization......Page 763
Serum Enzyme Levels......Page 764
Basic Features......Page 765
Muscle Disorders......Page 766
Value and Indications......Page 767
Major Abnormalities......Page 768
Clinical Features......Page 770
Pathology......Page 771
Anterior Horn Cell......Page 772
Neuromuscular Junction......Page 774
Management......Page 775
REFERENCES......Page 776
Metabolic Disorders......Page 779
Developmental Disturbance......Page 780
Neurological Features......Page 781
Electromyography......Page 783
Essential Cellular Changes......Page 784
Pathogenesis and Etiology......Page 785
Spinal Muscular Atrophy Variants......Page 786
Type II Glycogen Storage Disease (Pompe Disease)......Page 787
Neonatal Poliomyelitis......Page 788
LEVEL OF THE PERIPHERAL NERVE......Page 789
Clinical Features......Page 790
Hypomyelination......Page 791
Chronic Motor-Sensory Neuropathy: Neuronal-Axonal Disease......Page 792
Giant Axonal Neuropathy......Page 794
Congenital Sensory Neuropathy with Anhidrosis......Page 795
Myasthenia......Page 796
Laboratory Studies......Page 797
Pathogenesis and Etiology......Page 798
Congenital Myasthenic Syndromes: Acetylcholine Receptor Deficiency (Congenital Myasthenia)......Page 799
Pathology......Page 800
Laboratory Studies......Page 801
Management......Page 802
Laboratory Studies......Page 803
Pathogenesis and Etiology......Page 804
REFERENCES......Page 805
Congenital Myotonic Dystrophy......Page 813
Laboratory Studies......Page 816
Pathogenesis and Etiology......Page 817
Congenital Muscular Dystrophy......Page 818
Congenital Muscular Dystrophy without Overt Central Nervous System Abnormalities......Page 819
Congenital Muscular Dystrophy with Overt Central Nervous System Abnormalities......Page 820
Laboratory Studies......Page 822
Pathology......Page 823
Pathogenesis and Etiology......Page 825
Clinical Features......Page 827
Polymyositis......Page 828
Myopathic Disorders with Diagnostic Histology......Page 829
Pathogenesis and Etiology......Page 830
Pathology......Page 831
Pathology......Page 832
Pathology......Page 833
Multi-Minicore Disease......Page 834
Respiratory Chain......Page 835
Disorders of Glycogen Metabolism......Page 838
Type VII Glycogen Storage Disease (Phosphofructokinase Deficiency)......Page 839
Pathology......Page 840
Pathology......Page 841
Pathology......Page 842
Pathology......Page 843
Clinical Features......Page 844
Pathogenesis and Etiology......Page 845
Management......Page 846
Pathogenesis and Etiology......Page 847
Diagnosis......Page 848
DISTINGUISHING FEATURES OF DISORDERS OF THE MOTOR SYSTEM......Page 849
REFERENCES......Page 850
DESTRUCTIVE VERSUS TERATOGENIC EFFECTS......Page 863
Parturitional and Postnatal Infections......Page 864
Disturbances of Neuronal Migration......Page 865
Cerebellar Hypoplasia......Page 866
Serological Studies......Page 867
Diagnostic Studies......Page 868
Outcome with Asymptomatic Congenital Infection......Page 871
Antimicrobial Therapy......Page 873
Importance of Time of Maternal Infection......Page 874
Hydrocephalus......Page 875
Clinical Features......Page 876
Neurodiagnostic Studies......Page 877
Relation to Neonatal Clinical Syndrome......Page 878
Prevention......Page 879
Antimicrobial Therapy......Page 880
Importance of Time of Maternal Infection......Page 881
Vasculopathy......Page 882
Clinical Features......Page 883
Long-Term Hearing Deficits and Other Sequelae......Page 884
Prevention......Page 885
Parturitional and Ascending Infection......Page 886
Fetal (Transplacental) Infection......Page 887
Neuropathological Sequelae......Page 888
Incidence of Clinically Apparent Infection......Page 889
Clinical Features of Localized Disease......Page 890
Neurodiagnostic Studies......Page 891
Relation to the Neonatal Clinical Syndrome......Page 892
Prevention......Page 894
Antimicrobial Therapy......Page 895
Acute and Subacute Meningitis......Page 897
Clinical Features: Early Congenital Syphilis......Page 898
Serological Studies......Page 899
Antimicrobial Therapy......Page 900
Fetal and Parturitional Infection......Page 901
Cerebral Atrophy......Page 902
Clinical Features......Page 904
Serological Studies......Page 905
Prevention......Page 906
Enteroviruses......Page 907
Perinatal Enteroviral Intracranial Infection......Page 908
Coxsackievirus B......Page 909
Clinical Diagnosis......Page 910
Prognosis......Page 911
Clinical Aspects......Page 912
Neuropathology......Page 913
Clinical Aspects......Page 914
Lymphocytic Choriomeningitis......Page 915
REFERENCES......Page 916
Etiology......Page 928
Factors Related to Pregnancy and Delivery......Page 929
Specific Immunity......Page 930
Importance of Capsular Polysaccharides......Page 931
Arachnoiditis......Page 932
Ventriculitis......Page 933
Vasculitis......Page 934
Infarction......Page 935
Cerebral Cortical and White Matter Atrophy......Page 936
Mechanisms of Brain Injury......Page 937
Two Basic Syndromes......Page 939
Dominance of Neurological Signs......Page 940
Intracerebral Mass or Extracerebral Collection......Page 941
Cerebrospinal Fluid Findings......Page 942
Identification of the Microorganism in Cerebrospinal Fluid......Page 943
Ventricular Puncture......Page 944
Ultrasound Scan......Page 945
Reservations Concerning Available Data......Page 946
Selected Prognostic Factors......Page 947
Prevention (Group B Streptococcal Infection)......Page 949
Immunoprophylaxis......Page 950
Inappropriate Antidiuretic Hormone Secretion......Page 951
Initial Treatment......Page 952
Ventriculitis......Page 953
Ventriculostomy......Page 954
Pathogenesis......Page 955
Prognosis......Page 956
Management......Page 957
Neuropathology......Page 958
Prognosis......Page 959
Pathogenesis......Page 960
Prognosis......Page 961
REFERENCES......Page 962
Subgaleal Hemorrhage......Page 971
Pathology......Page 972
Pathology......Page 973
Management......Page 974
Major Varieties......Page 975
Epidural Hemorrhage......Page 976
Cerebral Contusion......Page 977
Incidence......Page 978
Pathogenesis......Page 979
Subsequent Course......Page 980
Prevention......Page 981
INJURY TO PERIPHERAL NERVOUS SYSTEM STRUCTURES......Page 983
Pathogenesis......Page 984
Erb Palsy......Page 985
Prognosis......Page 986
Therapy......Page 987
Clinical Syndrome......Page 988
Therapy......Page 989
Pathogenesis......Page 990
Management......Page 991
Antecubital Fossa and Brachial Artery......Page 992
Lumbosacral Plexus Injury......Page 993
REFERENCES......Page 994
Histological Types......Page 1001
Clinical Features......Page 1002
Diagnosis......Page 1003
Prognosis......Page 1004
Major Modalities of Treatment......Page 1005
VEIN OF GALEN MALFORMATION......Page 1008
Neuropathology......Page 1009
Clinical Features......Page 1011
Diagnosis......Page 1012
Prognosis......Page 1013
Clinical Features......Page 1014
REFERENCES......Page 1016
Neonatal Hemorrhage......Page 1021
Teratogenic Potential of Anticonvulsant Drugs......Page 1023
Neuropathology......Page 1024
Management......Page 1025
Fetal Trimethadione Syndrome......Page 1026
Clinical Features......Page 1027
Neural Tube Defects......Page 1028
Fetal Alcohol Syndrome......Page 1029
Clinical Features......Page 1030
Neuropathology......Page 1031
Pathogenesis......Page 1033
Management......Page 1034
Isotretinoin......Page 1035
Cocaine......Page 1036
Maternal-Fetal Effects......Page 1037
Neuronal Differentiation......Page 1038
Cerebral Infarction and Intracranial Hemorrhage......Page 1039
Neonatal Neurological and Neurophysiological Features......Page 1040
Mechanisms of Teratogenic Effects......Page 1041
Mechanisms of Destructive Effects......Page 1042
Low Birth Weight......Page 1043
Withdrawal Syndrome......Page 1044
Recognition......Page 1045
Acute Withdrawal Syndrome......Page 1046
Low Birth Weight......Page 1047
Withdrawal Syndrome......Page 1048
Management......Page 1049
Clinical Features......Page 1050
Longer-Acting Barbiturates......Page 1051
Clinical Features......Page 1052
Propoxyphene......Page 1053
REFERENCES......Page 1054
A......Page 1067
B......Page 1069
C......Page 1072
D......Page 1076
E......Page 1077
F......Page 1079
G......Page 1080
H......Page 1082
I......Page 1087
L......Page 1089
M......Page 1090
N......Page 1093
O......Page 1095
P......Page 1096
R......Page 1099
S......Page 1100
T......Page 1102
V......Page 1104
W......Page 1105
Z......Page 1106