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Pediatric Neurology, Part III - 1st Edition - ISBN: 9780444595652, 9780444595775

Pediatric Neurology, Part III, Volume 113

1st Edition

Series Volume Editors: Olivier Dulac Maryse Lassonde Harvey Sarnat
Hardcover ISBN: 9780444595652
eBook ISBN: 9780444595775
Imprint: Elsevier
Published Date: 17th May 2013
Page Count: 732
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Table of Contents

SECTION 14  Neuromuscular Disorders
136. Diagnostic work-up for neuromuscular diseases
       M. Fardeau and I. Desguerre (Paris, France)
137. Main steps of the skeletal muscle development in human: Morphological analysis and
        ultrastructural characteristics of developing human muscle
        N.B. Romero, M. Mezmezian and A. Fidziańska (Paris, France and Warsaw, Poland)
138. Arthrogryposis and fetal hypomobility syndrome
        G. Haliloglu and H. Topaloglu (Ankara, Turkey)
139. Congenital myopathies
        N.B. Romero and N.F. Clarke (Paris, France and Westmead, Australia)
140. Myofibrillar myopathies
        K.G. Claeys and M. Fardeau (Aachen, Germany and Paris, France)
141. Progressive muscular dystrophies
        J. Chelly and I. Desguerre (Paris, France)
142. Emery-Dreifuss muscular dystrophy, laminopathies and other nuclear envelopathies
        G. Bonne and S. Quijano-Roy (Paris, France)
143. Congenital muscular dystrophies
        J. Kirschner (Freiburg, Germany)
144. Congenital and infantile myotonic dystrophy
        B. Echenne and G. Bassez (Montpellier and Paris, France and Sherbrooke, Canada)
145. Spinal muscular atrophies
        L. Viollet and J. Melki (Paris, France)
146. Hereditary motor-sensory, motor and sensory neuropathies in childhood
        P.Landrieu, J. Baets and P. de Jonghe (Paris, France and Antwerp, Belgium)
147. Muscle channelopathies and related diseases
        B. Fontaine (Paris, France)
148. Metabolic neuropathies and myopathies
        A. D’Amico and E.S. Bertini (Rome, Italy)
149. Juvenile dermatomyositis
        P. Quartier and R.K. Gherardi (Paris, France)
150. Autoimmune myasthenia gravis
        S. Jayawant, J. Parr and A. Vincent (Oxford and Newcastle upon Tyne, UK)
151. Congenital myasthenic syndromes
        B. Eymard, D. Hantai and B. Estournet (Paris and Garches, France)
152. Neuromuscular complications of intensive care
        A. Mohamed and M.M. Ryan (Melbourne, Australia)
153. Respiratory care in neuromuscular disorders
        B. Estournet (St Quentin en Yvelines, France)
154. Medical and psychosocial considerations in rehabilitation care of childhood
        neuromuscular diseases
        M. Vanasse, H. Paré and R. Zeller (Montreal and Toronto, Canada)
155. Innovating therapies for muscle diseases
        A. Aartsma-Rus, G-J. van Ommen and J-C. Kaplan (Leiden, the Netherlands and Paris,

SECTION 15  Cranial nerves and brainstem dysfunction
156. Eye movement control and its disorders
        A. Wiwatwongwana and C.J. Lyons (Vancouver, Canada and Chiang Mai, Thailand)
157. The optic nerve and visual pathways
        C.J. Lyons and A. Wiwatwongwana  (Vancouver, Canada and Chiang Mai, Thailand)
158. Hearing loss and deafness in the paediatric population: causes, diagnosis and
        P. Deltenre and L. van Maldergem (Brussels, Belgium and Besançon, France)
159. Congenital feeding and swallowing disorders
        V. Abadie and G. Couly (Paris, France)

SECTION 16  Inborn errors of metabolism and storage diseases
160. Diagnostic work-up in acute conditions of inborn errors of metabolism and storage
        V. Valayannopoulos and B.T. Poll-The (Paris, France and Amsterdam, the
161. Metabolic diagnostic work-up in chronic conditions
        M.C. Nassongne and L. Hertz-Pannier (Brussels, Belgium and Gif sur Yvette, France)
162. Inborn errors of brain myelin formation
        O. Boespflug-Tanguy (Paris, France)
163. Peroxisomal disorders
        P. Aubourg and R. Wanders (Paris, France and Amsterdam, the Netherlands)
164. Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
        A. Kohlschütter (Hamburg, Germany)
165. Leukodystrophies with astrocytic dysfunction
        D. Rodriguez (Paris, France)
166. Aicardi-Goutières syndrome
        Y.J. Crow (Manchester, UK)
167. Disorders of nucleotide excision-repair
        I. Rapin (Bronx, USA)
168. Respiratory chain deficiencies
        P. Delonlay, A. Rötig and H.B. Sarnat (Paris, France and Calgary, Canada)
169. Disorders of pyruvate metabolism
        L. de Meirleir (Brussels, Belgium)
170. Disorders of fatty acid oxidation
        I. Tein (Toronto, Canada)
171. Glucide metabolism disorders (excluding glycogen myopathies)
        J. Klepper (Aschaffenburg, Germany)
172. Lysosomal diseases: biochemical pathways and investigations
        M.T. Vanier (Lyon, France)
173. Neuronal ceroid lipofuscinoses
        B. Chabrol, C. Caillaud and B. Minassian (Marseille and Paris, France and Toronto,
174. Gangliosidoses
        M.C. Patterson (Rochester, USA)
175. Gaucher disease
        C. Mignot, A. Gelot and T. Billette de Villemeur (Paris, France)
176. Niemann-Pick diseases
        M.T. Vanier (Lyon, France)
177. Mucopolysaccharidoses and mucolipidoses
        J.E. Wraith (Manchester, UK)
178. Progressive myoclonus epilepsy
        J-M. Girard, J. Turnbull, N. Ramachandran and B. Minassian (Toronto, Canada)
179. Congenital disorders of glycosylation
        J. Jaeken (Leuven, Belgium)
180. Inborn errors of copper metabolism
        S.G. Kaler (Bethesda, USA)
181. Defects in amino acid catabolism and the urea cycle
        G.F. Hoffmann and S. Kölker (Heidelberg, Germany)
182. Amino acid synthesis deficiencies
        T.J. de Koning (Groningen, the Netherlands)
183. Epileptic encephalopathy with suppression-bursts and non-ketotic hyperglycinemia
        O. Dulac (Paris, France)
184. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
        M. R. Baumgartner (Zurich, Switzerland)
185. Pyridoxine  and pyridoxalphosphate dependent epilepsies
        B. Plecko (Graz, Austria)
186. Monoamine neurotransmitter deficiencies
        P.L. Pearl (Washington, USA)
187. Metabolic disorders of purine metabolism affecting the nervous system
        H.A. Jinnah, R.L. Sabina and G. van den Berghe (Atlanta and Rochester, USA and
        Brussels, Belgium)
188. Creatine deficiency syndromes
        A. Schulze (Toronto, Canada)
189. Cholesterol metabolism deficiency
        P. Jira (Nijmegen, the Netherlands)
190. Enzyme replacement therapy and substrate reduction therapy in lysosomal storage
        disorders with neurological expression
        V. Valayannopoulos (Paris, France)
191. Gene therapy for disorders of the central nervous systems
        P. Aubourg (Paris, France)

SECTION 17  Heredodegenerative disorders
192. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar
        N.I. Wolf and M. Koenig (Amsterdam, the Netherlands and Illkirch, France)
193. Joubert syndrome and related disorders
        E.M. Valente, B. Dallapiccola and E. Bertini (Messina and Rome, Italy)
194. Progressive dystonia
        C. Klein and A. Münchau (Lübeck and Hamburg, Germany)
195. Hereditary spastic paraplegias: one disease for many genes, and still counting
        P.S. Denora, F.M. Santorelli and E.S. Bertini (Rome, Italy)
196. Huntington’s disease in children
        D. Letort and P. Gonzalez-Alegre (Iowa City, USA)
197. Axonal dystrophies
        N. Nardocci and G. Zorzi (Milan, Italy)

SECTION 18  Postnatal toxic and induced disorders
198. Postnatal toxic and acquired disorders
        D. Saint-Amour, R. Dallaire and O. Dulac (Quebec, Canada and Paris, France)
199. Cerebrovascular complications in children with sickle cell disease
        M. de Montalembert and W. Wang (Paris, France and Memphis, USA)


The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults.

Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research.

Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also 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.

Key Features

  • A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology
  • International list of contributors including the leading workers in the field
  • Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care


Neurologists, paediatric neurologists and neuroscientists


No. of pages:
© Elsevier 2013
17th May 2013
Hardcover ISBN:
eBook ISBN:


"This is the third of three volumes on pediatric neurology, a topic that was previously omitted from the series. It contains 64 chapters assembled by Dulac… and coeditors Lassonde and Sarnat and contributed by neurologists, neuroscientists, pediatricians, and others from around the world, who address the diagnosis and treatment, as well as other facets, of neuromuscular disorders, cranial nerves and brainstem dysfunction, inborn errors of metabolism, heredodegenerative disorders, and postnatal toxic and induced disorders." --Reference & Research Book News, December 2013

Ratings and Reviews

About the Series Volume Editors

Olivier Dulac

Maryse Lassonde

Affiliations and Expertise

Centre de Recherche en Neuropsychologie et Cognition, Departement de Psychologie, Universite de Montreal, Quebec, Canada

Harvey Sarnat

Affiliations and Expertise

University of Calgary, Faculty of Medicine; Division Chief, Paediatric Neurology, Alberta Children's Hospital, Calgary, Alberta, Canada