Pediatric Neurology Part III

Content: 
Series Page
Page ii

Copyright
Page iv

Handbook of Clinical Neurology 3rd Series
Page v

Foreword
Page vii
Michael J. Aminoff, François Boller, Dick F. Swaab

Preface
Page ix
Olivier Dulac, Maryse Lassonde, Harvey B. Sarnat

Contributors
Pages xi-xv

Chapter 136 - Diagnostic workup for neuromuscular diseases
Pages 1291-1297
Michel Fardeau, Isabelle Desguerre

Chapter 137 - Main steps of skeletal muscle development in the human: Morphological analysis and ultrastructural characteristics of developing human muscle
Pages 1299-1310
Norma Beatriz Romero, Monica Mezmezian, Anna Fidziańska

Chapter 138 - Arthrogryposis and fetal hypomobility syndrome
Pages 1311-1319
Goknur Haliloglu, Haluk Topaloglu

Chapter 139 - Congenital myopathies
Pages 1321-1336
Norma Beatriz Romero, Nigel F. Clarke

Chapter 140 - Myofibrillar myopathies
Pages 1337-1342
Kristl G. Claeys, Michel Fardeau

Chapter 141 - Progressive muscular dystrophies
Pages 1343-1366
Jamel Chelly, Isabelle Desguerre

Chapter 142 - Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
Pages 1367-1376
Gisèle Bonne, Susana Quijano-Roy

Chapter 143 - Congenital muscular dystrophies
Pages 1377-1385
Janbernd Kirschner

Chapter 144 - Congenital and infantile myotonic dystrophy
Pages 1387-1393
Bernard Echenne, Guillaume Bassez

Chapter 145 - Spinal muscular atrophies
Pages 1395-1411
Louis Viollet, Judith Melki

Chapter 146 - Hereditary motor-sensory, motor, and sensory neuropathies in childhood
Pages 1413-1432
Pierre Landrieu, Jonathan Baets, Peter De Jonghe

Chapter 147 - Muscle channelopathies and related diseases
Pages 1433-1436
Bertrand Fontaine

Chapter 148 - Metabolic neuropathies and myopathies
Pages 1437-1455
Adele D'amico, Enrico Bertini

Chapter 149 - Juvenile dermatomyositis
Pages 1457-1463
Pierre Quartier, Romain K. Gherardi

Chapter 150 - Autoimmune myasthenia gravis
Pages 1465-1468
Sandeep Jayawant, Jeremy Parr, Angela Vincent

Chapter 151 - Congenital myasthenic syndromes
Pages 1469-1480
Bruno Eymard, Daniel Hantaï, Brigitte Estournet

Chapter 152 - Neuromuscular complications of intensive care
Pages 1481-1483
Ahmad Mohamed, Monique M. Ryan

Chapter 153 - Respiratory care in neuromuscular disorders
Pages 1485-1490
B. Estournet

Chapter 154 - Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases
Pages 1491-1495
Michel Vanasse, Hélène Paré, Reinhard Zeller

Chapter 155 - Innovating therapies for muscle diseases
Pages 1497-1501
Annemieke Aartsma-Rus, Gert-Jan Van Ommen, Jean-Claude Kaplan

Chapter 156 - Eye movement control and its disorders
Pages 1505-1513
Atchareeya Wiwatwongwana, Christopher J. Lyons

Chapter 157 - The optic nerve and visual pathways
Pages 1515-1525
Christopher J. Lyons, Atchareeya Wiwatwongwana

Chapter 158 - Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation
Pages 1527-1538
Paul Deltenre, Lionel Van Maldergem

Chapter 159 - Congenital feeding and swallowing disorders
Pages 1539-1549
Véronique Abadie, Gérard Couly

Chapter 160 - Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases
Pages 1553-1562
Valayannopoulos Vassili, Poll-The Bwee Tien

Chapter 161 - Metabolic diagnostic work-up in chronic conditions
Pages 1563-1580
Marie-Cécile Nassogne, Lucie Hertz-Pannier

Chapter 162 - Inborn errors of brain myelin formation
Pages 1581-1592
Odile Boespflug-tanguy

Chapter 163 - Peroxisomal disorders
Pages 1593-1609
Patrick Aubourg, Ronald Wanders

Chapter 164 - Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
Pages 1611-1618
Alfried Kohlschütter

Chapter 165 - Leukodystrophies with astrocytic dysfunction
Pages 1619-1628
Diana Rodriguez

Chapter 166 - Aicardi–Goutières syndrome
Pages 1629-1635
Yanick J. Crow

Chapter 167 - Disorders of nucleotide excision repair
Pages 1637-1650
Isabelle Rapin

Chapter 168 - Respiratory chain deficiencies
Pages 1651-1666
Pascale Delonlay, Agnes Rötig, Harvey B. Sarnat

Chapter 169 - Disorders of pyruvate metabolism
Pages 1667-1673
Linda De Meirleir

Chapter 170 - Disorders of fatty acid oxidation
Pages 1675-1688
Ingrid Tein

Chapter 171 - Glucide metabolism disorders (excluding glycogen myopathies)
Pages 1689-1694
Joerg Klepper

Chapter 172 - Lysosomal diseases: biochemical pathways and investigations
Pages 1695-1699
Marie T. Vanier

Chapter 173 - Neuronal ceroid lipofuscinoses
Pages 1701-1706
Brigitte Chabrol, Catherine Caillaud, Berge Minassian

Chapter 174 - Gangliosidoses
Pages 1707-1708
Marc C. Patterson

Chapter 175 - Gaucher disease
Pages 1709-1715
Cyril Mignot, Antoinette Gelot, Thierry Billette De Villemeur

Chapter 176 - Niemann–Pick diseases
Pages 1717-1721
Marie T. Vanier

Chapter 177 - Mucopolysaccharidoses and mucolipidoses
Pages 1723-1729
James Edmond Wraith

Chapter 178 - Progressive myoclonus epilepsy
Pages 1731-1736
Jean-Marie Girard, Julie Turnbull, Nivetha Ramachandran, Berge A. Minassian

Chapter 179 - Congenital disorders of glycosylation
Pages 1737-1743
J. Jaeken

Chapter 180 - Inborn errors of copper metabolism
Pages 1745-1754
Stephen G. Kaler

Chapter 181 - Defects in amino acid catabolism and the urea cycle
Pages 1755-1773
Georg F. Hoffmann, Stefan Kölker

Chapter 182 - Amino acid synthesis deficiencies
Pages 1775-1783
T.J. de Koning

Chapter 183 - Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia
Pages 1785-1797
Olivier Dulac

Chapter 184 - Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
Pages 1799-1810
Matthias R. Baumgartner

Chapter 185 - Pyridoxine and pyridoxalphosphate-dependent epilepsies
Pages 1811-1817
Barbara Plecko

Chapter 186 - Monoamine neurotransmitter deficiencies
Pages 1819-1825
Phillip L. Pearl

Chapter 187 - Metabolic disorders of purine metabolism affecting the nervous system
Pages 1827-1836
H.A. Jinnah, Richard l. Sabina, Georges Van Den Berghe

Chapter 188 - Creatine deficiency syndromes
Pages 1837-1843
Andreas Schulze

Chapter 189 - Cholesterol metabolism deficiency
Pages 1845-1850
Petr Jira

Chapter 190 - Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression
Pages 1851-1857
Vassili Valayannopoulos

Chapter 191 - Gene therapy for disorders of the central nervous system
Pages 1859-1866
Patrick Aubourg

Chapter 192 - Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration
Pages 1869-1878
Nicole I. Wolf, Michel Koenig

Chapter 193 - Joubert syndrome and related disorders
Pages 1879-1888
Enza Maria Valente, Bruno Dallapiccola, Enrico Bertini

Chapter 194 - Progressive dystonia
Pages 1889-1897
Christine Klein, Alexander Münchau

Chapter 195 - Hereditary spastic paraplegias: one disease for many genes, and still counting
Pages 1899-1912
Paola S. Denora, Filippo M. Santorelli, Enrico Bertini

Chapter 196 - Huntington's disease in children
Pages 1913-1917
Derek Letort, Pedro Gonzalez-Alegre

Chapter 197 - Axonal dystrophies
Pages 1919-1924
Nardo Nardocci, Giovanna Zorzi

Chapter 198 - Postnatal toxic and acquired disorders
Pages 1927-1935
Dave Saint-Amour, Renee Dallaire, Oliver Dulac

Chapter 199 - Cerebrovascular complications in children with sickle cell disease
Pages 1937-1943
M. De Montalembert, W. Wang

Index
Pages I1-I44