"Handbook of Clinical Neurology" series ed. by Michael J. Aminoff, Francois Boller, Dick F. Swaab
Pediatric Neurology, Part III, Volume 113, ed. by Olivier Dulac, Maryse Lassonde, Harvey B. Sarnat
Elsevier | 2013 | ISBN: 0444595651 9780444595652 | 669 pages | PDF | 126 MB
This volume describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care. The volume of the Handbook of Clinical Neurology series is most comprehensive source of information in neurology.
Experts in the different subspecialties contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed - brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed.
Contents Foreword
Preface
Contributors
136 Diagnostic workup for neuromuscular diseases
137 Main steps of skeletal muscle development in the human: Morphological analysis and ultrastructural characteristics of developing human muscle
138 Arthrogryposis and fetal hypomobility syndrome
139 Congenital myopathies
140 Myofibrillar myopathies
141 Progressive muscular dystrophies
142 Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
143 Congenital muscular dystrophies
144 Congenital and infantile myotonic dystrophy
145 Spinal muscular atrophies
146 Hereditary motor-sensory, motor, and sensory neuropathies in childhood
147 Muscle channelopathies and related diseases
148 Metabolic neuropathies and myopathies
149 Juvenile dermatomyositis
150 Autoimmune myasthenia gravis
151 Congenital myasthenic syndromes
152 Neuromuscular complications of intensive care
153 Respiratory care in neuromuscular disorders
154 Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases
155 Innovating therapies for muscle diseases
156 Eye movement control and its disorders
157 The optic nerve and visual pathways
158 Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation
159 Congenital feeding and swallowing disorders
160 Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases
161 Metabolic diagnostic work-up in chronic conditions
162 Inborn errors of brain myelin formation
163 Peroxisomal disorders
164 Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
165 Leukodystrophies with astrocytic dysfunction
166 Aicardi-Goutieres syndrome
167 Disorders of nucleotide excision repair
168 Respiratory chain deficiencies
169 Disorders of pyruvate metabolism
170 Disorders of fatty acid oxidation
171 Glucide metabolism disorders (excluding glycogen myopathies)
172 Lysosomal diseases: biochemical pathways and investigations
173 Neuronal ceroid lipofuscinoses
174 Gangliosidoses
175 Gaucher disease
176 Niemann-Pick diseases
177 Mucopolysaccharidoses and mucolipidoses
178 Progressive myoclonus epilepsy
179 Congenital disorders of glycosylation
180 Inborn errors of copper metabolism
181 Defects in amino acid catabolism and the urea cycle
182 Amino acid synthesis deficiencies
183 Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia
184 Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
185 Pyridoxine and pyridoxalphosphate-dependent epilepsies
186 Monoamine neurotransmitter deficiencies
187 Metabolic disorders of purine metabolism affecting the nervous system
188 Creatine deficiency syndromes
189 Cholesterol metabolism deficiency
190 Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression
191 Gene therapy for disorders of the central nervous system
192 Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration
193 Joubert syndrome and related disorders
194 Progressive dystonia
195 Hereditary spastic paraplegias: one disease for many genes, and still counting
196 Huntington's disease in children
197 Axonal dystrophies
198 Postnatal toxic and acquired disorders
199 Cerebrovascular complications in children with sickle cell disease
Index
with TOC BookMarkLinks
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