Our thanks go to our colleagues at the VU Univer- Preface to the Third Edition sity Medical Center and to those in other hospitals Reading through the prefaces of the two previous edi- who referred their patients to us. We are indebted to tions, we can say that much of what was said there still all colleagues who allowed us to use their MR images, holds. At the same time, however, much has changed. published or unpublished, making it possible for us to There has been immense progress in the technical present illustrations of nearly all known white matter possibilities of magnetic resonance and in the know- disorders. Two colleagues were particularly helpful ledge of genetic defects, biochemical abnormalities, and provided us with essential and unpublished f- and cellular processes underlying myelin disorders. ures: our friends Susan Blaser, from the Hospital for This immense progress has prompted us to embark Sick Children in Toronto, and Zoltán Patay, from the upon the enormous task of rewriting the previous King Faisal Hospital in Riyadh. edition and adding 40 chapters. In doing so we have Many people at the VU University Medical Center tried to cover most white matter disorders, hereditary have been of great technical help to us in producing and acquired, and to present a collection of images to high quality images and in providing secretarial illustrate the field to the fullest possible extent. This assistance. The contributions of these people are edition will therefore be more complete than the pre- mentioned separately in the acknowledgements.
Inhaltsverzeichnis
Myelin and White Matter.- Classification of Myelin Disorders.- Selective Vulnerability.- Myelination and Retarded Myelination.- Lysosomes and Lysosomal Disorders.- Metachromatic Leukodystrophy.- Multiple Sulfatase Deficiency.- Globoid Cell Leukodystrophy: Krabbe Disease.- GM1 Gangliosidosis.- GM2 Gangliosidosis.- Fabry Disease.- Fucosidosis.- Mucoplysaccharidoses.- Free Sialic Acid Storage Disorder.- Neuronal Ceroid Lipofuscinoses.- Adult Polyglucosan Body Disease.- Peroxisomes and Peroxisomal Disorders.- Peroxisome Biogenesis Defects.- Peroxisomal D-Bifunctional Protein Deficiency.- Peroxisomal Acyl-Co A Oxidase Deficiency.- X-Linked Adrenoleukodystrophy.- Refsum Disease.- Mitochondria and Mitochondrial Disorders.- Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes.- Leber Hereditary Optic Neuropathy.- Kearns-Sayre Syndrome.- Mitochondrial Neurogastrointestinal Encephalomyopathy.- Leigh Syndrome and Mitochondrial Leukoencephalopathies.- Pyruvate Carboxylase Deficiency.- Multiple Carboxylase Deficiency.- Cerebrotendinous Xanthomatosis.- Cockayne Syndrome.- Trichothiodystrophy with Photosensitivity.- Pelizaeus-Merzbacher Disease and X-linked Spastic Paraplegia Type 2.- 18q? Syndrome.- Phenylketonuria.- Glutaric Aciduria Type 1.- Propionic Acidemia.- Nonketotic Hyperglycinemia.- Maple Syrup Urine Disease.- 3-Hydroxy-3-Methylglutaryl-Co A Lyase Deficiency.- Canavan Disease.- L-2-Hydroxyglutaric Aciduria.- D-2-Hydroxyglutaric Aciduria.- Hyperhomocysteinemias.- Urea Cycle Defects.- Serine Synthesis Defect Caused by 3-Phosphoglycerate Dehydrogenase Deficiency.- Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency.- Galactosemia.- Sjögren-Larsson Syndrome.- Lowe Syndrome.- Wilson Disease.- Menkes Disease.- Fragile X Premutation.-Hypomelanosis of Ito.- Incontinentia Pigmenti.- Alexander Disease.- Giant Axonal Neuropathy.- Megalencephalic Leukoencephalopathy with Subcortical Cysts.- Congenital Muscular Dystrophies.- Myotonic Dystrophy Type 1.- Myotonic Dystrophy Type 2.- X-linked Charcot-Marie-Tooth Disease.- Oculodentodigital Dysplasia.- Leukoencephalopathy with Vanishing White Matter.- Aicardi-Goutières Syndrome.- Leukoencephalopathy with Calcifications and Cysts.- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Elevated White Matter Lactate.- Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum.- Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids.- Dentatorubropallidoluysian Atrophy.- Cerebral Amyloid Angiopathy.- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.- Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (Nasu-Hakola Disease).- Pigmentary Orthochromatic Leukodystrophy.- Adult-Onset Autosomal Dominant Leukoencephalopathies.- Inflammatory and Infectious Disorders.- Multiple Sclerosis.- Acute Disseminated Encephalomyelitis and Acute Hemorrhagic Encephalomyelitis.- Acquired Immunodeficiency Syndrome.- Progressive Multifocal Leukoencephalopathy.- Brucellosis.- Subacute Sclerosing Panencephalitis.- Congenital and Perinatal Cytomegalovirus Infection.- Whipple Disease.- Toxic Encephalopathies.- Iatrogenic Toxic Encephalopathies.- Central Pontine and Extrapontine Myelinolysis.- Hypernatremia.- Marchiafava-Bignami Syndrome.- Posterior Reversible Encephalopathy Syndrome.- Langerhans Cell Histiocytosis.- Post-Hypoxic-Ischemic Damage.- Post-Hypoxic-Ischemic Encephalopathy of Neonates.-Neonatal Hypoglycemia.- Delayed Posthypoxic Leukoencephalopathy.- White Matter Lesions of the Elderly.- Subcortical Arteriosclerotic Encephalopathy.- Vasculitis.- Leukoencephalopathy and Dural Arteriovenous Fistulas.- Leukoencephalopathy After Radiotherapy and Chemotherapy.- Gliomatosis Cerebri.- Diffuse Axonal Injury.- Wallerian Degeneration and Myelin Loss Secondary to Neuronal and Axonal Degeneration.- Diffusion-Weighted Imaging.- Magnetization Transfer Imaging.- Magnetic Resonance Spectroscopy: Basic Principles and Application in White Matter Disorders.- Pattern Recognition in White Matter Disorders.
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