Pascual Progressive Brain Disorders in Childhood

Erscheinungsjahr 2017
ISBN: 978-1-108-21562-6
Verlag: Cambridge University Press
Format: PDF
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch, 0 Seiten

Progressive neurodevelopmental disorders that affect the development of the infant brain can have detrimental impacts on a range of cognitive and emotional behaviors. The identification and management of these disorders can be challenging for neurologists, pediatricians and other healthcare professionals who encounter these conditions in their practices. This book is essential for teaching medical practitioners how to promptly identify neurological regression during childhood development and investigate disorders in sufficient depth to be able to arrive at a precise syndromic diagnosis, plan appropriate management for the patient, and offer advice to caregivers. The text provides a platform for clinicians - new and experienced - to expose their knowledge gaps in the field of neurodegenerative and related disorders. Individual disorders are analyzed by age of onset, with attention given to disorders present in utero, in the newborn, in the infant, and the adolescent, making this a practical and comprehensive guide for any healthcare professional.

Autoren/Hrsg.

Pascual, Juan M.

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Neurologie, Klinische Neurowissenschaft

Inhaltsverzeichnis

Preface; Section 1. Introduction: 1. Principles of progressive brain disorders in childhood; Section 2. Rise and decline of the child; Human neurological development: 2. The developing child; 3. Language development; Assessment of neural performance: 4. The neurological examination of newborns, infants and children; 5. Neuropsychological assessment of children; 6. Maturation of the electroencephalogram in infancy; 7. Magnetic resonance imaging of the developing brain; Death and palliation in neurodegenerative disorders: 8. The declining child; Section 3. Mechanisms of neurological loss of function; Degeneration in the central nervous system: 9. Mechanisms of neural cell death; Axonal degeneration: 10. Mechanisms of axonal degeneration; Section 4: Neurodegenerative and other progressive disorders in childhood; Progressive in utero disorders: 11. Prenatal inborn metabolic errors; 12. Maternal phenylketonuria; Newborn disorders: 13. Zellweger disease; 14. Other neonatal peroxysomal disorders; 15. Pyruvate dehydrogenase deficiency; 16. Neonatal pyruvate carboxylase deficiency; 17. Tricarboxylic acid cycle disorders; 18. Other newborn mitochondrial disorders; 19. Organic acidemias of the newborn; 20. Molybdenum cofactor deficiency; 21. Urea cycle defects; 22. Holocarboxylase synthetase deficiency and biotinidase deficiency; 23. Disorders of pyridoxine metabolism; 24. Maple syrup urine disease; 25. Other inborn errors of amino acid metabolism; 26. Newborn congenital glycosylation disorders; Disorders of infancy: 27. Phenylketonuria; 28. Infantile organic acidemias; 29. Niemann-Pick type A disease; 30. Sialidosis; 31. Galactosialidosis; 32. Infantile ceroid lipofuscinosis (Haltia-Santavuori disease); 33. Farber disease; 34. Infantile sialic acid storage disease; 35. Childhood congenital disorders of glycosylation; 36. Creatine deficiency syndromes; 37. Pompe disease; 38. Alpers-Huttenlocher disease; 39. Leigh syndrome; 40. Infantile dopamine transporter deficiency; 41. Canavan disease; 42. Cockayne syndrome; 43. Menkes disease; 44. Infantile Refsum disease; 45. Krabbe disease; 46. Infantile ascending hereditary spastic paraplegia; 47. Metachromatic leukodystrophy and multiple sulfatase deficiency; 48. Alexander disease; 49. Pelizaeus-Merzbacher disease; 50. Rett syndrome; 51. Spinal muscular atrophy; 52. Infantile neuroaxonal dystrophy; 53. Déjérine-Sottas disease; 54. Myotonic dystrophy; 55. Vici syndrome; 56. Aicardi-Goutières syndrome; 57. Infantile Andersen disease; 58. Familial infantile bilateral striatal necrosis; 59. Inherited cobalamin deficiency; 60. Hereditary folate disorders; Childhood disorders: 61. Unverricht-Lundborg disease; 62. Lafora disease; 63. Neuronal intranuclear inclusion disease; 64. Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease); 65. Juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt disease); 66. Coenzyme Q10 deficiency; 67. Common mitochondrial disorders of children; 68. Acute necrotizing encephalopathy; 69. Gaucher disease; 70. Niemann-Pick type C disease; 71. GM2 gangliosidoses; 72. Mucopolysaccharidoses; 73. Mucolipidoses; 74. Fucosidosis; 75. Mannosidoses; 76. GM1 gangliosidosis; 77. Fabry disease; 78. Hartnup disease 325; 79. Schindler disease; 80. X-linked adrenoleukodystrophy; 81. Pantothenate kinase deficiency; 82. Ataxia teleangiectasia; 83. Friedreich ataxia; 84. Bassen-Kornzweig disease; 85. Vanishing white matter disease; 86. Childhood spinocerebellar ataxias; 87. Charcot-Marie-Tooth disease; 88. Giant axonal neuropathy; 89. Segawa disease; 90. Biotin-thiamine responsive basal ganglia disease; 91. Rasmussen encephalitis; Adolescent disorders: 92. Wilson disease; 93. Neurodegeneration with brain iron accumulation; 94. Aceruloplasminemia; 95. Cerebrotendinous xanthomatosis; 96. Juvenile Huntington disease; 97. Hereditary spastic paraplegia; 98. Adult ne

Über Autor(innen)

Pascual, Juan M.
Juan M. Pascual is a Professor of Neurology and Neurotherapeutics, Physiology and Pediatrics and of the Eugene McDermott Center for Human Growth & Development at The University of Texas Southwestern Medical Center.