Pediatric Neurology Part III Handbook of Clinical Neurology 1st Edition by Olivier Dulac ISBN 0444595651 9780444595652

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ISBN 10: 0444595651 
ISBN 13: 9780444595652
Author: Olivier Dulac

Pediatric Neurology Part III Handbook of Clinical Neurology 1st Table of contents:

SECTION 14: Neuromuscular disorders
Chapter 136. Diagnostic workup for neuromuscular diseases
The clinical history
Clinical examination
Conclusions
A diagnostic algorithm for neuromuscular diseases
Conclusions
Chapter 137. Main steps of skeletal muscle development in the human
Morphological analysis of developing human muscle
Ultrastructural characteristics of developing human muscle
Chapter 138. Arthrogryposis and fetal hypomobility syndrome
Introduction
Natural history
Management and treatment
Conclusions
Chapter 139. Congenital myopathies
Introduction
Overview of clinical aspects
Congenital myopathies with cores
Congenital myopathies with protein aggregates
Myosin storage myopathy
Congenital myopathies with central nuclei
Congenital myopathies with abnormal fiber ratios or sizes
Concluding remarks
Chapter 140. Myofibrillar myopathies
Introduction
Myofibrillar myopathies with early disease onset
Diagnosis
Therapy and follow-up
Chapter 141. Progressive muscular dystrophies
Introduction
Duchenne and becker muscular dystrophies
DMD Gene and molecular pathology
Pathophysiology of duchenne muscular dystrophy
Prevention, carrier detection, prenatal diagnosis, and genetic counseling
Management and care in duchenne muscular dystrophy
Other progressive muscular dystrophies in children
Chapter 142. Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
Introduction
The nuclear envelope
Pathophysiology
Clinical spectrum
Chapter 143. Congenital muscular dystrophies
Introduction
Epidemiology
Congenital muscular dystrophies related to extracellular matrix defects
Rigid spine congenital muscular dystrophy
Congenital muscular dystrophies caused by glycosylation defects of α-dystroglycan
Diagnostic approach
Treatment options and perspectives
Chapter 144. Congenital and infantile myotonic dystrophy
Introduction
Classification
Laboratory investigations
Pathophysiology
Molecular biology and phenotype/genotype correlations
Treatment
Conclusions
Chapter 145. Spinal muscular atrophies
Introduction
History
Epidemiology
General description of proximal spinal muscular atrophy
Classification
Diagnosis
Phenotypes according to the type
Evolution and natural history of spinal muscular atrophy
Genotype-phenotype correlation in spinal muscular atrophy linked to smn1
Care and management for spinal muscular atrophy patients
Pathogenesis of spinal muscular atrophy linked to smn1 gene
Therapeutic strategies in spinal muscular atrophy
Spinal muscular atrophy variants
Conclusion
Acknowledgments
Chapter 146. Hereditary motor-sensory, motor, and sensory neuropathies in childhood
Introduction
Pathophysiology of nerve fiber degeneration: electrophysiological examination
Neurological and genetic classifications of hereditary neuropathies
From phenotype to genotype, and vice versa
I ruling out a neuropathy secondary to a hereditary general disease
II Primary neuropathies
III Syndromic neuropathies
Further-reading
Chapter 147. Muscle channelopathies and related diseases
Periodic paralysis
Myotonia
Neuromyotonia
Emerging diseases: neonatal forms of muscle channelopathies
Acknowledgments
Chapter 148. Metabolic neuropathies and myopathies
Introduction
Metabolic peripheral neuropathies
Metabolic myopathies
Chapter 149. Juvenile dermatomyositis
Introduction
Etiology
Epidemiology
Pathogenesis
Clinical presentation
Disease activity and damage assessment
Differential diagnosis
Treatment
Prognosis and outcome
Conclusions
Chapter 150. Autoimmune myasthenia gravis
Introduction
Juvenile myasthenia gravis
Ocular myasthenia gravis
Myasthenia gravis with anti-muscle-specific kinase antibodies (musk-Mg)
Maternally transmitted myasthenia gravis
Lambert–Eaton myasthenic syndrome
Clinical assessment and investigation of patients with myasthenia gravis
Treatment and management of juvenile myasthenia gravis and Lambert–Eaton myasthenic syndrome
Crises in myasthenia
Chapter 151. Congenital myasthenic syndromes
Introduction
Clinical expression of congenital myasthenic syndromes
Description of congenital myasthenic syndromes
Strategy for congenital myasthenic syndrome diagnosis, and differential diagnosis
Phenotype-genotype correlations and prognosis
Therapy
Conclusion
Chapter 152. Neuromuscular complications of intensive care
Background
Clinical features and natural history
Risk factors and pathophysiology
Diagnosis
Differential diagnosis
Management and prognosis
Chapter 153. Respiratory care in neuromuscular disorders
Introduction
Causes of respiratory insufficiency
Assessment of respiratory status
Diagnosis of pulmonary involvement
Treatment of the pulmonary involvement
Pulmonary care in neuromuscular patients
Management of acute illnesses
Pre- and postsurgical management
Conclusion
Chapter 154. Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases
Introduction
Diagnosis and disclosure
Rehabilitation
Therapeutic strategy: orthopedic and rehabilitation care in neuromuscular diseases (a surgeon’s perspective)
Chapter 155. Innovating therapies for muscle diseases
Scope
Gene therapy
Cell therapy
Antisense oligonucleotides
Drugs that induce read through of premature stop codons
Drug treatment
Emerging auxiliary resources
Conclusion
SECTION 15: Cranial nerves and brainstem dysfunction
Chapter 156. Eye movement control and its disorders
Control of eye movements
Ocular motor nerve testing
Horizontal gaze
Vertical gaze
Supranuclear pathways
Abnormalities of horizontal gaze
Vertical gaze abnormalities
Cranial nerves and ocular motility
Disease of the neuromuscular junction
Myopathic disorders
Chapter 157. The optic nerve and visual pathways
Vision and the visual pathway: fixation pattern and visual acuity assessment in the child
Examination of the optic nerve
Congenital anomalies of the optic disc and clinical implications
The swollen optic disc in children
The infant who does not see
Chapter 158. Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation
Introduction
Hearing loss in the pediatric population
Establishing the diagnosis of hearing loss
Genetic diagnosis of the cause of hearing loss
Rehabilitation of the hearing-impaired child
Acknowledgments
Chapter 159. Congenital feeding and swallowing disorders
Introduction
Development and physiology of feeding
Semiology and diagnostic strategy for suspected congenital feeding and swallowing disorder
Investigations
Main causes of congenital feeding and swallowing disorders
Management
SECTION 16: Inborn errors of metabolism and storage diseases
Chapter 160. Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases
Introduction
Acute symptoms in the neonatal period and early infancy (<1 year)
Late-onset acute and recurrent attacks (beyond the first year of life, including adolescence)
Treatment approaches
Conclusion
Chapter 161. Metabolic diagnostic work-up in chronic conditions
Introduction
Progressive neurological conditions with motor, cognitive, and/or behavioral signs
Peripheral neuropathy as a sign of inherited metabolic diseases
Microcephaly associated with inherited metabolic diseases
Macrocephaly associated with inherited metabolic diseases
Further reading
Glossary
Chapter 162. Inborn errors of brain myelin formation
Introduction
Normal myelination of the human central nervous system
Primary inherited disorders of myelin formation
Conclusions
Chapter 163. Peroxisomal disorders
Introduction
Physiological role of peroxisomes
Biogenesis of peroxisomes
The peroxisome biogenesis disorders: a clinically and genetically heterogeneous group of disorders
Laboratory diagnosis of peroxisome biogenesis disorders
Treatment of peroxisome biogenesis disorders
Prenatal diagnosis and genetic counseling
Single peroxisomal enzyme deficiencies
X-Linked adrenoleukodystrophy (X-ALD): a disorder of substrate import deficiency into peroxisomes
Further-reading
Chapter 164. Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
Introduction
Krabbe disease (globoid cell leukodystrophy)
Metachromatic leukodystrophy
Chapter 165. Leukodystrophies with astrocytic dysfunction
Introduction
Alexander disease
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Megalencephalic leukoencephalopathy with subcortical cysts
Canavan disease-van bogaert–bertrand disease
Chapter 166. Aicardi–Goutières syndrome
Introduction
Natural history of aicardi–goutières syndrome
Investigations
Associated features
Neuropathology
Genetics
Pathogenesis
Management
Differential diagnosis
Chapter 167. Disorders of nucleotide excision repair
Disorders of DNA repair and their complex genetics and cellular effects
Clinical features of cockayne syndrome, trichothiodystrophy, and xeroderma pigmentosum
Differential diagnosis and clinical investigations
Intervention
Chapter 168. Respiratory chain deficiencies
Introduction
Major neurological presentations
Brain MRI
Biological investigation
Molecular investigation
Molecular findings
Pathology of mitochondrial encephalomyopathies
Conclusion
Chapter 169. Disorders of pyruvate metabolism
Introduction
Pyruvate dehydrogenase complex
Pyruvate carboxylase deficiency
Chapter 170. Disorders of fatty acid oxidation
Introduction
Role of fatty acids
Clinical and biochemical features of identified defects
Additional laboratory findings
Specific features of individual genetic defects
Differentiating laboratory features
Diagnostic approaches and screening methods
Treatment
Genetics and presymptomatic recognition
Chapter 171. Glucide metabolism disorders (excluding glycogen myopathies)
Introduction
Disorders of glucide metabolism with neurological symptoms
Specific disorders of glucide metabolism
Chapter 172. Lysosomal diseases: biochemical pathways and investigations
The lysosome and the concept of lysosomal disease
Principles for laboratory diagnosis of lysosomal diseases
Chapter 173. Neuronal ceroid lipofuscinoses
Introduction
Clinical forms and associated genes
Pathophysiology
Pre- and postnatal diagnosis
Treatment
Chapter 174. Gangliosidoses
Introduction
Biochemistry
GM1 Gangliosidoses
GM2 Gangliosidoses
Diagnosis
Management
Chapter 175. Gaucher disease
Introduction
Pathogenesis, pathological anatomy, and metabolism
Genetics
Diagnosis
Clinical symptoms
Treatment
Chapter 176. Niemann–Pick diseases
Introduction
Acid sphingomyelinase-deficient niemann–pick disease (or primary sphingomyelinoses; niemann–pick diseases types A and B)
Niemann–pick disease type C
Chapter 177. Mucopolysaccharidoses and mucolipidoses
Introduction
Clinical presentation
Diagnosis
Treatment
Further reading
Chapter 178. Progressive myoclonus epilepsy
Introduction
Lafora disease
Unverricht–lundborg disease (unverricht disease)
Ataxia-PME disease
Type I sialidosis (cherry-red spot myoclonus syndrome) and type IIIA gaucher disease
Conclusion
Chapter 179. Congenital disorders of glycosylation
Introduction
Defects of protein N-glycosylation
Defects of protein O-glycosylation
Defects of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Defects of multiple glycosylation and other pathways
Perspectives
Further reading
Chapter 180. Inborn errors of copper metabolism
Introduction
Wilson Disease
Summary
Chapter 181. Defects in amino acid catabolism and the urea cycle
Introduction
Clinical spectrum and diagnostic work-up
Individual disorders
Chapter 182. Amino acid synthesis deficiencies
Introduction
Serine deficiency
Glutamine deficiency
Proline synthesis disorders
Conclusions
Chapter 183. Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia
Introduction
Early epileptic encephalopathy
Neonatal myoclonic encephalopathy
Isolated sulfite oxidase deficiency and molybdenum cofactor deficiency
Nonketotic hyperglycinemia
Mechanisms of suppression-bursts
Conclusion
Chapter 184. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
Introduction
Acquired and inherited disorders of cobalamin and folate
Biotin responsive disorders
Vitamin B1-responsive disorders
Vitamin E-responsive disorders
Chapter 185. Pyridoxine and pyridoxalphosphate-dependent epilepsies
Introduction
Pyridoxine-dependent epilepsy
Hyperprolinemia type ii
Pyridoxal-5′-phosphate (plp)-dependent epilepsy (pnpo deficiency)
Congenital hypophosphatasia (congenital hpp)
Conclusions
Further-reading
Chapter 186. Monoamine neurotransmitter deficiencies
Introduction
Biochemistry
Clinical disorders of monoamine synthesis without peripheral hyperphenylalaninemia
Clinical disorders of monoamine synthesis with peripheral hyperphenylalaninemia
Disorders of monoamine degradation
Conclusion
Chapter 187. Metabolic disorders of purine metabolism affecting the nervous system
Introduction
Adenylosuccinate lyase deficiency
Lesch–nyhan disease
Myoadenylate deaminase deficiency
Other purine disorders
Summary and conclusions
Chapter 188. Creatine deficiency syndromes
Introduction
Metabolism and function of creatine
Creatine metabolism in the brain
Genetic nature of the creatine deficiency syndromes
Clinical presentation
Neuroimaging
EEG/Seizures
Diagnosis
Treatment
Selective screening for creatine deficiency syndromes
Conclusion
Chapter 189. Cholesterol metabolism deficiency
Introduction
The smith–lemli–opitz syndrome
Mevalonic aciduria
Hyperimmunoglobulinemia D syndrome (Dutch-type periodic fever)
The conradi–hünermann–happle syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Greenberg skeletal dysplasia (hydrops ectopic calcification moth-eaten skeletal dysplasia, hem)
Lathosterolosis
Desmosterolosis
Central nervous system
Brain
Development and behavior
Ophthalmological concerns
Sonic hedgehog pathway
Summary
Chapter 190. Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression
Introduction
Effects of enzyme replacement therapy and substrate reduction therapy on lsd with neurological expression
Niemann-Pick C disease
Conclusion
Chapter 191. Gene therapy for disorders of the central nervous system
Gene therapy
Viral gene therapy vectors
Engineering targeted viral vectors
Delivery of gene therapy vector
Immune reaction against the transgene
Regulation of transgene expression
Clinical applications
Conclusion
SECTION 17: Heredodegenerative disorders
Chapter 192. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration
Introduction
Hereditary ataxias with autosomal recessive inheritance
Pontocerebellar hypoplasia
Autosomal dominant ataxias
Cerebellar atrophy in the context of other disorders
Potentially treatable hereditary disorders with ataxia
Chapter 193. Joubert syndrome and related disorders
Nosology of joubert syndrome and related disorders
Genetics of joubert syndrome and related disorders
Chapter 194. Progressive dystonia
Introduction
Isolated and combined dystonias
Complex dystonias
Chapter 195. Hereditary spastic paraplegias: one disease for many genes, and still counting
Introduction
Genetic and phenotypic heterogeneity
X-Linked Forms
Autosomal dominant forms (ADHSP)
Autosomal recessive forms (ARHSP)
Syndromic forms
Sporadic cases
Pathogenetic mechanisms
Other functions
Concluding remarks
Huntington’s disease in children
Introduction
Etiology and pathogenesis
Clinical manifestations
Diagnosis
Treatment
Chapter 197. Axonal dystrophies
Introduction
Pantothenate kinase-associated neurodegeneration
Infantile neuroaxonal dystrophy
SECTION 18: Postnatal toxic and induced disorders
Chapter 198. Postnatal toxic and acquired disorders
Introduction
Thyroid dysfunction
Renal failure
Graft
Seizures following near miss and cardiac failure
Central Pontine myelinolysis
Chapter 199. Cerebrovascular complications in children with sickle cell disease
Introduction
Pathophysiology
Epidemiology
Screening and treatment for strokes
Management of intracranial hemorrhages
Neuropsychological performance

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Tags: Olivier Dulac, Pediatric Neurology, Clinical Neurology