eBook Pediatric Neurology, Part III, 1st Edition

  • Volume 3
  • Published By:
  • ISBN-10: 0444595775
  • ISBN-13: 9780444595775
  • DDC: 618.928
  • Grade Level Range: College Freshman - College Senior
  • 732 Pages | eBook
  • Original Copyright 2013 | Published/Released June 2014
  • This publication's content originally published in print form: 2013
  • Price:  Sign in for price



Children are not miniature adults or immature humans. They express abilities that optimize environmental adaptation and new acquisitions. Diseases in children encompass the adult specialties. Neurology is a particularly large area, ranging from the brain to striated muscle. The human nervous system is sensitive to prenatal aggression and particularly immature at birth. Development may be affected by age-dependent disorders. Even diseases more often encountered in adults may express differently in developing nervous systems. The course of chronic neurological diseases beginning before adolescence is distinct from adult pathology. A growing area for adult neurologists is the care of children with neurological diseases that persist into adulthood. Pediatric neurology evolved as the volume and complexity of data became too much for general pediatricians or adult neurologists and has continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, and malformations, that general pediatric neurologists no longer have in-depth expertise in all areas. Subspecialty expertise is provided through fellowship programs, many of which include research training. Infectious context, genetic background, and medical practice vary worldwide and must be represented in a pediatric neurology textbook. Subspecialty experts helped design its general framework and contents. Special emphasis is given to development, and normal development is reviewed when needed.

Table of Contents

Front Cover.
Half Title Page.
Other Frontmatter.
Title Page.
Copyright Page.
Handbook of Clinical Neurology 3rd Series.
Contents of Part III.
Contents of Part I.
Contents of Part II.
1: Neuromuscular Disorders.
2: Diagnostic Workup for Neuromuscular Diseases.
3: Main Steps of Skeletal Muscle Development in the Human: Morphological Analysis and Ultrastructural Characteristics of Developing Human Muscle.
4: Arthrogryposis and Fetal Hypomobility Syndrome.
5: Congenital Myopathies.
6: Myofibrillar Myopathies.
7: Progressive Muscular Dystrophies.
8: Emery–Dreifuss Muscular Dystrophy, Laminopathies, and Other Nuclear Envelopathies.
9: Congenital Muscular Dystrophies.
10: Congenital and Infantile Myotonic Dystrophy.
11: Spinal Muscular Atrophies.
12: Hereditary Motor-Sensory, Motor, and Sensory Neuropathies in Childhood.
13: Muscle Channelopathies and Related Diseases.
14: Metabolic Neuropathies and Myopathies.
15: Juvenile Dermatomyositis.
16: Autoimmune Myasthenia Gravis.
17: Congenital Myasthenic Syndromes.
18: Neuromuscular Complications of Intensive Care.
19: Respiratory Care in Neuromuscular Disorders.
20: Medical and Psychosocial Considerations in Rehabilitation Care of Childhood Neuromuscular Diseases.
21: Innovating Therapies for Muscle Diseases.
22: Cranial Nerves and Brainstem Dysfunction.
23: Eye Movement Control and its Disorders.
24: The Optic Nerve and Visual Pathways.
25: Hearing Loss and Deafness in the Pediatric Population: Causes, Diagnosis, and Rehabilitation.
26: Congenital Feeding and Swallowing Disorders.
27: Inborn Errors of Metabolism and Storage Diseases.
28: Diagnostic Work-Up in Acute Conditions of Inborn Errors of Metabolism and Storage Diseases.
29: Metabolic Diagnostic Work-Up in Chronic Conditions.
30: Inborn Errors of Brain Myelin Formation.
31: Peroxisomal Disorders.
32: Lysosomal Leukodystrophies: Krabbe Disease and Metachromatic Leukodystrophy.
33: Leukodystrophies with Astrocytic Dysfunction.
34: Aicardi–Goutières Syndrome.
35: Disorders of Nucleotide Excision Repair.
36: Respiratory Chain Deficiencies.
37: Disorders of Pyruvate Metabolism.
38: Disorders of Fatty Acid Oxidation.
39: Glucide Metabolism Disorders (Excluding Glycogen Myopathies).
40: Lysosomal Diseases:Biochemical Pathways and Investigations.
41: Neuronal Ceroid Lipofuscinoses.
42: Gangliosidoses.
43: Gaucher Disease.
44: Niemann–Pick Diseases.
45: Mucopolysaccharidoses and Mucolipidoses.
46: Progressive Myoclonus Epilepsy.
47: Congenital Disorders of Glycosylation.
48: Inborn Errors of Copper Metabolism.
49: Defects in Amino Acid Catabolism and the Urea Cycle.
50: Amino Acid Synthesis Deficiencies.
51: Epileptic Encephalopathy with Suppression-Bursts and Nonketotic Hyperglycinemia.
52: Vitamin-Responsive Disorders: Cobalamin, Folate, Biotin, Vitamins B1 and E.
53: Pyridoxine and Pyridoxalphosphate-Dependent Epilepsies.
54: Monoamine Neurotransmitter Deficiencies.
55: Metabolic Disorders of Purine Metabolism Affecting the Nervous System.
56: Creatine Deficiency Syndromes.
57: Cholesterol Metabolism Deficiency.
58: Enzyme Replacement Therapy and Substrate Reduction Therapy in Lysosomal Storage Disorders with Neurological Expression.
59: Gene Therapy for Disorders of the Central Nervous System.
60: Heredodegenerative Disorders.
61: Progressive Cerebellar Atrophy: Hereditary Ataxias and Disorders with Spinocerebellar Degeneration.
62: Joubert Syndrome and Related Disorders.
63: Progressive Dystonia.
64: Hereditary Spastic Paraplegias: One Disease for Many Genes, and Still Counting.
65: Huntington’s Disease in Children.
66: Axonal Dystrophies.
67: Postnatal Toxic and Induced Disorders.
68: Postnatal Toxic and Acquired Disorders.
69: Cerebrovascular Complications in Children with Sickle Cell Disease.