Reinhard L. Friede

Developmental Neuropathology

• Broschiertes Buch

Produktbeschreibung

I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.

Produktdetails

• Verlag: Springer / Springer Berlin Heidelberg / Springer, Berlin
• Artikelnr. des Verlages: 978-3-642-73699-5
• 2. Aufl.
• Seitenzahl: 596
• Erscheinungstermin: 21. Dezember 2011
• Englisch
• Abmessung: 242mm x 170mm x 32mm
• Gewicht: 978g
• ISBN-13: 9783642736995
• ISBN-10: 3642736998
• Artikelnr.: 36115283

Inhaltsangabe

Introduction: Normal Development and Basic Reactions.- 1. Gross and Microscopic Development of the Central Nervous System.- Timing of Early Embryonal Landmarks.- Mass Growth of the Brain.- Cerebral Gyri.- Lamination of Cerebral Cortex.- Superficial Granular Layer.- Cells of Cajal-Retzius.- Ammon's Horn.- Periventricular Germinal Layer.- Volume of White Matter.- Myelination Gliosis and Development of Astrocytes.- Myelination.- Regional Timing of Myelination.- Basal Ganglia.- Mineralization of Cerebral Tissue.- Ventricular System.- Brain Stem Nuclei.- Melanization of Nuclei.- Cerebellum.- Spinal Cord.- References.- 2. Some Features of Basic Reactions Characteristic for Immature Nervous Tissue.- Reaction of Immature Nervous Tissue to Necrosis.- Age-Dependent Variation in Anoxic Tissue Damage.- Anoxic Neuronal Necrosis.- Myelination Gliosis.- Reactive Gliosis.- Fibrillary Gliosis.- Differentiation of Glia in the Germinal Layer.- Metabolic Astrocytosis.- Macrophage Responses.- References.- First Part: Acquired Lesions in Newborns and Infants.- 3. Porencephaly, Hydranencephaly, Multicystic Encephalopathy.- Porencephaly.- Hydranencephaly.- Basket Brains.- Hydranencephaly or Porencephaly Related to Fetal Infections.- Hydranencephaly with Proliferative Vasculopathy.- Cavitated Cerebral Lesions in Twins.- Multicystic Encephalopathy.- Global Hemispheric Necrosis in Infants.- Pathogenetic Considerations.- References.- 4. Hemorrhages in Asphyxiated Premature Infants.- Subependymal and Intraventricular Hemorrhages.- Choroid Plexus Hemorrhages.- Subarachnoid Hemorrhages.- Subpial Hemorrhages.- Hemorrhages into the Falx.- Cerebellar Hemorrhages.- Hemorrhages at Other Sites.- Residual Lesions.- Posthemorrhagic Hydrocephalus.- Other Residua.- Pathogenetic Considerations.- References.- 5. Lesions of Traumatic Birth and Other Causes of Hemorrhage.- Intradural Hemorrhages.- Lacerations of Tentorium or Falx.- Bone Injuries.- Epidural and Subdural Hemorrhages.- Embolism of Cerebral Tissue.- Injuries of the Spinal Cord.- Intracerebral Hematomas.- Hemorrhagic Disease of the Newborn.- Erythrocyte Disorders.- Herniation of Cerebral Tissue from Increased Intracranial Pressure.- References.- 6. Perinatal Lesions of White Matter.- Periventricular Infarcts (Periventricular Leukomalacia).- Gross and Microscopic Features of Periventricular Infarcts.- Hemorrhages into Infarcts.- Residual Lesions of Periventricular Infarcts.- Differential Diagnosis of Periventricular Cavitated Lesions.- Pathogenetic Considerations.- Subcortical Infarcts.- Lesions in Areas of Primary Myelination.- Perinatal Telencephalic Leukoencephalopathy.- Cerebral White Matter Hypoplasia.- Diffuse Fatty Change of White Matter.- References.- 7. Perinatal Lesions of Gray Matter.- Ulegyria of Cerebral Cortex - Definition.- Acute and Subacute Lesions of Ulegyria.- Residual Lesions of Ulegyria.- Regional Distribution of Ulegyria.- Associated Cerebellar Lesions.- Status Marmoratus of Basal Ganglia - Definition.- Early Lesions of Status Marmoratus.- Late Lesions of Status Marmoratus.- Association of Status Marmoratus with Other Lesions.- Nature of the Lesions in Status Marmoratus.- Symmetrical Thalamic Sclerosis in Infants.- Other Lesions of Basal Ganglia.- Lesions Causing Specific Sensory Defects.- Pontosubicular Neuron Necrosis - Definition.- Lesions of Pontosubicular Neuron Necrosis.- Pathogenetic Considerations on Perinatal Asphyxiai Cerebral Damage.- References.- 8. Postnatal Lesions of Gray Matter.- Cardiac Arrest Encephalopathy.- Spinal Cord Necrosis.- Retrolental Fibroplasia.- Hypoglycemic Lesions.- Sudden Infant Death Syndrome.- Hemorrhagic Shock Encephalopathy.- Postconvulsive Brain Damage - General Aspects.- Postconvulsive-postanoxic Diffuse Cerebral Cortical Sclerosis - Definition of Lesions.- Postconvulsive Cerebral Damage - Clinical Course and Types of Lesions.- Hemiatrophy.- Cerebellar Lesions.- Patterns of Transneuronal Degeneration - Crossed Cerebellar Atrophy.- Aplasia Versus Atrophy of the Cerebellar Granular Layer.- Superficial Siderosis.- Familial Degeneration of the Pallidonigral System.- Infantile Bilateral Striatal Necrosis.- Congenital Pick Cell Encephalopathy.- References.- 9. Kernicterus (Bilirubin Encephalopathy).- Metabolism of Bilirubin.- Etiologies of Kernicterus.- Gross and Microscopic Features of Kernicterus.- Posticteric Encephalopathy.- Kernicterus, Status Dysmyelinisatus and Lesions of Perinatal Anoxia.- Pathogenetic Considerations.- References.- 10. Arterial Diseases in Infancy.- Occlusion of Stems of Major Cerebral Arteries in Newborns.- Smaller, Randomly Disposed Infarcts in Newborns.- Arterial Calcification in Infants.- Disseminated Vascular Disease in the Congenital Rubella Syndrome.- Secondary Changes in Atrophic Arteries near Residual Perinatal Lesions.- Vasculo-occlusive Processes in Childhood.- Moyamoya Disease.- Vasculo-occlusive Disease in Homocystinuria.- Fibromuscular Dysplasia.- Dissecting Aneurysms of Cerebral Arteries.- Congenital Aneurysms of Cerebral Arteries.- References.- 11. Thrombosis of Intracranial Sinus and Veins.- Phlebothrombosis Complicating General Diseases.- Gross and Microscopic Features of Phlebothrombosis.- Residual Lesions of Phlebothrombosis.- Pathogenetic Considerations.- Thrombophlebitis from Local Propagation of Infections.- References.- 12. Cerebral Lesions in Congenital Cardiac Disease.- Abscesses.- Phlebothrombosis.- Infarcts.- Aneurysms.- Other Lesions.- Subendocardial Fibroelastosis.- References.- 13. Craniocerebral Trauma in Infancy.- Cerebral Lesions from Blunt Trauma in Early Infancy.- Subdural Hematomas.- Widening Skull Fracture of Childhood.- References.- 14. Infections of the Fetus.- Rubella Embryopathy.- Generalized Cytomegalic Inclusion Disease.- Other Viral Infections.- Toxoplasmosis.- Connatal Syphilis.- HTLV-III Virus (AIDS).- Experimental Malformations Produced by Fetal Infections and Their Bearing on Human Disease.- References.- 15. Purulent Leptomeningitis in Newborns and Infants.- Neonatal Leptomeningitis.- Gross and Microscopic Features of Neonatal Leptomeningitis.- Postmeningitic Encephalopathy.- Pathogenetic Considerations.- Neonatal Listeriosis.- Intrauterine Meningitis.- Leptomeningitis in Infants.- Subdural Effusions in Meningitis.- Postmeningitic Lesions in Infants.- Abscesses and Empyemas.- References.- 16. Meningoencephalitic Processes in the Peri- and Postnatal Periods, Including CNS Involvement by some Hematologic Diseases.- Candida.- Mucor.- Aspergillus.- Cryptococcus.- Coccidioides.- Helminths.- Herpes Simplex.- Coxsackie Virus.- Poliomyelitis.- Aseptic Meningitis due to Enteroviruses.- Arthropod-borne Viruses.- Unclassified Chronic Encephalitis.- Tuberculosis.- HTLV-III Virus (AIDS).- Hypo- and Agammaglobulinemia.- Chronic Granulomatous Disease of Childhood.- Chediak-Higashi Disease.- Familial Lymphohistiocytosis (Erythrophagocytic or Hemophagocytic Lymphohistiocytosis or Reticulosis).- References.- 17. Subdural Hematomas, Hygromas and Effusions.- Structure and Reactions of the Subdural Space.- Subdural Hemorrhage in Infancy.- Supratentorial Hematomas.- Infratentorial Hematomas.- Pathology of Chronic Subdural Hematomas.- Subdural Hygromas.- Chronic Subdural Hematomas and Hydrocephalus.- Subdural Hemorrhage upon Dehydration.- Chronic Subdural Hematomas Coexisting with Atrophic Hemispheric Lesions.- Benign Subdural Effusions.- Subdural Effusions in Leptomeningitis.- Traumatic Subdural Effusions.- Subdural Hemorrhages in General Diseases.- Congenital Subdural Cysts.- Pathogenetic Considerations.- References.- 18. Meningeal Cysts.- Arachnoid and Glioependymal Cysts - General Features and Classification.- Structure of Arachnoid Cysts.- Structure of Glioependymal Cysts.- Topographic Survey: Cysts of the Cerebral Hemispheres.- Intracerebral Cysts.- Basal Midline Cysts.- Supracollicular and Paramesencephalic Cysts (Cysts of Cisterna Ambiens).- Retrocerebellar and Basal Infratentorial Cysts.- Spinal Cysts.- Syndromes with Arachnoid or Glioependymal Cysts.- Choroid Plexus Cysts.- Dural Cysts.- References.- 19. Hydrocephalus - Basic Concepts and General Pathology.- Circulation of CSF in Small, Primitive Brains.- Circulation of CSF in Large Brains.- CSF and Extracellular Tissue Compartment.- Pathophysiology of Disturbed CSF Circulation.- Compensatory Mechanisms of CSF Resorption.- Changes in Production of CSF.- Effects of CSF Composition.- Effects of Pressure Pulses.- General Pathology of Hydrocephalus.- Redundant Gyration.- Secondary Atrophy.- Secondary Cortical Defects and Diverticles.- Postshunting Changes.- References.- 20. Hydrocephalus - Special Pathology.- Hypersecretory Hydrocephalus.- Local Entrapment of Lateral Ventricles.- Obstruction of the Foramen Monro.- Obstruction of the Third Ventricle.- Anatomy and Development of the Aqueduct.- Congenital Versus Acquired Obstruction of the Aqueduct - Definitions.- Secondary Hydrocephalic Aqueduct Obstruction.- Congenital Sex- Linked Stenosis of the Aqueduct.- Congenital Atresia of the Aqueduct.- Gliotic Obstruction of the Aqueduct.- Septum of the Aqueduct.- Experimental Obstruction of the Aqueduct.- Compression of the Aqueduct by Other Lesions.- Obstruction of the Cerebellar Foramina.- Obstruction by Impaction into the Foramen Magnum.- Noncanalization of the Subarachnoid Space.- Subarachnoid Obstruction by Heterotopic Tissues.- Secondary Fibrotic Obstruction of the Subarachnoid Space.- Diseases of Arachnoid Granulations.- Functional Impairment of the Absorption of CSF.- Increased Venous Pressure and Hydrocephalus.- Hydrocephalus Associated with Dysplasia of Cranial Bones.- Disturbances of Intracranial Pressure Induced by an Abnormal Supply of Vitamin A.- References.- Second Part: Malformations.- 21. Spina Bifida and Related Spinal Lesions.- Spina Bifida: Classification and Biologic Statistics.- Clinical Features of Spina Bifida.- Bone and Associated Lesions of Spina Bifida.- Spina Bifida Occulta.- Spina Bifida Cystica.- Myelocystocele.- Tethering of the Spinal Cord.- Diastematomyelia.- Hydromyelia.- Dermoid Sinus.- Pathogenetic Considerations.- References.- 22. Forms of Hindbrain Crowding, Including the Arnold-Chiari Malformation.- Clinical Features of Hindbrain Crowding.- Infantile Versus Adult Lesions.- Pathology of the Arnold-Chiari Malformation.- Pathogenetic Considerations.- Chronic Ascending Herniations.- Chronic Tonsillar Herniations.- References.- 23. Anencephaly, Rachischisis, Encephaloceles and Related Lesions, Syndromes with Encephaloceles.- Anencephaly.- Gross Features of Anencephaly.- Iniencephaly.- Microscopic Features of Anencephaly.- Acalvaria.- Encephaloceles and Cranial Meningoceles.- Typical Sites of Encephaloceles.- Pathology of Encephaloceles.- Pathology of Meningoceles.- Intradiploic Heterotopias of Neural Tissue.- Frontonasal Dysplasia (Median Cleft Face Syndrome).- Meckel Syndrome.- Occasional Association of Encephaloceles or Anencephaly with Other Malformations or Malformation Syndromes.- Amniotic Band Syndrome.- Apert Syndrome.- Cantrell-Haller-Rawitsch Syndrome.- Cryptophthalmos Syndrome.- Knobloch Syndrome.- Van Voss Syndrome.- Dyssegmental Dwarfism.- Hemifacial Microsomia/Goldenhar-Gorlin Syndrome.- References.- 24. Ventral Dysraphic and Various Sacral Lesions.- Neurenteric (Enterogenic) Cysts.- Cystic Teratomas (Teratomatous Cysts).- Anterior Sacral Meningoceles.- Occult Intrasacral Meningoceles.- References.- 25. Disturbances in Bulk Growth: Megalencephaly, Micrencephaly, Atelencephaly and Others.- Megalencephaly - Definitions.- Upper Range of Brain Weight.- Megalencephaly Syndromes.- Pathology of Megalencephaly.- Hemimegalencephaly.- Quasi-neoplastic Forms of Megalencephaly.- Pathogenesis of Megalencephaly.- Micrencephaly - Definitions.- Clinical Features of Micrencephaly.- Pathology of Micrencephaly.- Pathogenesis of Micrencephaly.- Atelencephaly (Atelencephalic Microcephaly).- Fetal Alcohol Syndrome.- Syndromes with Microcephaly.- References.- 26. Dysplasias of the Cerebral Hemispheres.- Arhinencephaly, Holoprosencephaly, Olfactory Aplasia.- Clinical Features of Arhinencephaly.- Pathologic Findings of Arhinencephaly.- Pathogenesis.- Combined and Overlapping Cerebral Malformations.- Malformations of the Chiasma Opticum.- Opticoseptal (Septooptic) Dysplasia.- Pituitary Aplasia.- Duplication of Pituitary Gland Callosal Agenesis (a Syndrome?).- Hydrolethalus Syndrome.- Agenesis of the Corpus Callosum.- Aicardi Syndrome (Agenesis of the Corpus Callosum, Infantile Spasms and Ocular Anomalies).- Partial Callosal Agenesis with Seizures and Retardation (Menkes).- Sensorimotor Neuropathy with Agenesis of the Corpus Callosum (Andermann) 321 Agenesis of the Corpus Callosum with Bouts of Hypothermia.- Callosal Defects Other than Agenesis.- Colpocephaly.- Dorsal Fornix.- Absence of the Septum Pellucidum.- Cysts of the Septum Pellucidum.- Temporal Lobe Dysplasia in Tanatophoric Dwarfism or with Cloverleaf Skull.- Duplication Malformations.- References.- 27. Dysplasias of Cerebral Cortex.- Agyria (Lissencephaly) and Pachygyria.- Laminar Heterotopias.- Nodular Heterotopias.- Multiple Nodular Heterotopias in a Familial Syndrome of Amentia and Ventricular Calcifications.- Scattered Subcortical Neurons.- Polymicrogyria.- Agyria-Polymicrogyria Patterns.- Syndromes of Cerebro-Ocular Dysplasia and Muscular Dystrophy.- Nodular Cortical Dysplasia.- Leptomeningeal Glioneuronal Heterotopias.- Meningeal Heterotopia of Striated Muscle.- Persistence of the Subpial Granular Layer.- Persistence of Horizontal Cells of Cajal.- Columnar Arrangement of Nerve Cells.- Archicortical Laminar Structure.- Focal Dysplasia of the Cerebral Cortex in Epilepsy.- Abnormal Gyration of Malformed Brains.- References.- 28. Dysplasias of Cerebellum.- Cerebellar Development as a Guide to the Classification of Cerebellar Dysplasias.- The Dandy-Walker Malformation.- Joubert Syndrome.- Aplasia of Vermis with Occipital Encephalocele (Tectocerebellar Dysraphia).- Rhombencephalosynapsis.- Other Patterns of Vermis Aplasia.- Neocerebellar Aplasia and Total Cerebellar Aplasia.- Atresia of the Fourth Ventricle.- Atresia of Cerebellar Foramina.- References.- 29. Dysplasias of Cerebellar Cortex.- Development of Cerebellar Cortex.- Principles of Classification.- Heterotopias.- Dysplasias of Cerebellar Nuclei.- Trivial Dysplasias in Newborns.- Focal and Diffuse Cortical Dysplasias.- Persistence of the Superficial Granular Layer.- Lesions from Selective Damage to the Superficial Granular Layer - Basic Concepts.- Granular Layer Aplasia.- Diffuse Hypertrophy of Cerebellar Cortex (Lhermitte-Duclos).- References.- 30. Dysplasias of Brain Stem and Spinal Cord.- Dysplasias of the Inferior Olivary Nuclei.- Anomalies of Crossing of the Corticospinal Tracts.- Aplasia of the Corticospinal Tracts.- Hypertrophy of the Corticospinal Tracts.- Aplasia of the Dorsal Spinal Tracts.- Congenital Facio- and Ophthalmoplegia (Möbius Syndrome).- Arthrogryposis multiplex congenita.- Arthrogryposis with Pena-Shokeir Syndrome.- Arthrogryposis with Lesions of Motor Neurons.- Arthrogryposis with Malformations or Degenerative Lesions.- Arthrogryposis with Severe Encephaloclastic Lesions.- Thalidomide-induced Deformities.- Congenital Absence of Abdominal Muscles (Prune Belly Syndrome).- Sacral Agenesis.- The Floppy Infant Syndrome.- Spinal Cord Changes in Congenital Hereditary Sensory Neuropathies.- References.- 31. Dysplasias in Chromosome Anomalies.- Trisomy 21 - Down Syndrome (Mongolism).- Trisomy 22.- Trisomy 18 (Edwards Syndrome).- Other Anomalies of Chromosome 18.- Trisomy 13 (Patau Syndrome).- 13q Syndrome.- Trisomy 9.- Loss of the Short Arm of Chromosome 4 (Wolf-Hirschhorn Syndrome).- Sex Chromosome Anomalies.- References.- 32. Dysplasias of Cerebral Vessels.- Development of Cerebral Vasculature.- Persistent Fetal Meningeal Vascularization.- Persistence of the Primitive Trigeminal Artery.- Persistence of the Primitive Hypoglossal Artery.- Agenesis of the Internal Carotid Artery.- Arteriovenous Aneurysm of the Vein of Galen.- Shunting of Arteries into the Intracranial Sinus.- Diffuse Meningocerebral Angiodysplasia.- Involvement of Central Nervous System in Multiple Neonatal Angiomata.- Arteriovenous Malformations.- References.- Third Part: Metabolic Diseases.- 33. Diseases of Carbohydrate Metabolism.- Glycogen Storage Diseases - General Comments and Classification.- Glycogenosis Type II (Pompe Disease); Acid Maltase Deficiency.- Glycogenosis Type IV.- Glycogenosis Type VIII.- Galactosemia.- Aspartylglucosaminuria.- Fucosidosis.- ?-Mannosidosis.- Carpine-?-Mannosidosis.- Mucopolysaccharidoses (Glucosaminoglycan Storage Diseases).- Sialidosis (?-Neuraminidase Deficiency).- I-Cell Disease (Mucolipidosis II).- Mucolipidosis III.- References.- 34. Sphingolipidoses.- Types of GM2-gangliosidosis.- Infantile GM2-gangliosidosis.- Juvenile GM2-gangliosidosis.- Pathology of GM2-gangliosidoses.- GM1-rgangliosidosis.- GM3-gangliosidosis.- Niemann-Pick Disease.- Juvenile Dystonic Lipidosis.- Storage of Ceramide Lactoside.- Gaucher Disease.- References.- 35. Ceroid-Lipofuscinosis and Miscellaneous Lipidoses.- Neuronal Ceroid-Lipofuscinosis.- Clinical Course of Ceroid-Lipofuscinosis.- Pathology of Ceroid-Lipofuscinosis.- Pigment Variants.- Congenital Amaurotic Idiocy.- Cephalin Lipidosis.- Lactosylceramidosis.- Wolman Disease.- Storage Disease with Osteopetrosis.- References.- 36. Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency.- Types of Arylsulfatase Deficiencies.- Pathology of Metachromatic Leukodystrophy.- Pathogenetic Considerations.- Multiple Sulfatase Deficiency (O-Variant).- References.- 37. Globoid Cell Leukodystrophy.- Clinical Course of Globoid Cell Leukodystrophy.- Pathology of Globoid Cell Leukodystrophy.- Pathogenetic Considerations.- References.- 38. Peroxisomal Diseases.- The Historical Concept of Schilder Disease.- Adrenoleukodystrophy/Adrenomyeloneuropathy.- Neonatal Adrenoleukodystrophy.- Cerebro-Hepato-Renal Syndrome of Zellweger.- Hyperpipecolic Acidemia.- Infantile Refsum Disease.- References.- 39. Mitochondrial Diseases.- General Histopathology of Mitochondria.- Principles of Classification of Mitochondriopathies.- Group I: Defects of Pyruvate Utilization.- Subacute Necrotizing Encephalomyelopathy (Leigh Disease).- Infantile Wernicke Disease.- Group II: Defects of Fatty Acid Utilization.- Group III: Defects of Oxidative Phosphorylation Coupling.- Group IV: Defects of the Respiratory Chain - Subclassification.- Fukuhara Myoclonus Syndrome with Ragged-Red Fibers.- Fatal Infantile Mitochondrial Myopathy.- Menkes Disease - Trichopoliodystrophy.- Progressive Cerebral Poliodystrophy (Alpers Disease).- Adolescent or Adult Mitochondrial Myoencephalopathies.- Retardation, Myopathy and Multiple Cerebral Infarcts.- Other Syndromes.- References.- 40. Spongy Myelinopathies.- Differential Diagnosis of Spongy Tissue States.- Spongy Degeneration of the Central Nervous System (Van Bogaert-Bertrand or Canavan Disease).- Pathology of Spongy Degeneration.- Pathogenetic Considerations.- Kearns-Sayre Syndrome.- GM3-gangliosidosis.- Reye Syndrome.- Hexachlorophene Myelinopathy.- Other Neurotoxic Spongy Myelinopathies.- References.- 41. Diseases of Amino Acid Metabolism.- General Comments.- Phenylketonuria (Phenylpyruvic Oligophrenia).- Hyperprolinemia.- Tyrosinosis.- Glutaric Acidemia.- Maple Syrup Urine Disease (Branched-Chain Ketoaciduria).- Oast House Disease.- Hyperglycinemia.- Gamma-Aminobutyric Acid Transaminase Deficiency.- Homocystinuria.- Sulfite Oxidase Deficiency.- Combined Sulfite and Xanthine Oxidase Deficiency.- Hartnup Disease.- Diseases of the Urea (Krebs-Henseleit) Cycle.- References.- 42. Patchy Myelinopathies: Pelizaeus-Merzbacher Disease, Cockayne Syndrome, and Others, also Including a Review of Primary Cerebral Mineralizations.- Pelizaeus-Merzbacher Disease - Classic Infantile or Late Infantile Form.- Pelizaeus-Merzbacher Disease - Connatal Form.- Intermediate Forms of Pelizaeus-Merzbacher Disease.- Pelizaeus-Merzbacher Disease - Adult Form.- Patchy Myelin Defects in Malformed Brains.- Unclassified Sudanophilic Leukodystrophic Processes of Infancy.- Cockayne Syndrome.- Syndromes Similar to Cockayne Syndrome.- Patients Without Basal Ganglia Mineralization.- Patients with Encephalopathy and CSF Pleocytosis.- Patients with Cerebellar Mineralization, Dysplasias and Arachnoid Cysts.- White Matter Changes and Mineralization upon Chemotherapy and X-Irradiation.- Membranous Lipodystrophy (Nasu-Hakola Disease).- Differential Diagnosis of Cerebral Mineralizations.- References.- 43. Alexander Disease.- Clinical Features of Alexander Disease.- Pathology of Alexander Disease.- Pathogenetic Considerations.- References.- 44. Axon Dystrophies.- Axon Swellings - Basic Concepts.- Classification of Axon Dystrophies.- Age-Dependent Axon Dystrophy.- Precocious Axon Dystrophy in Mucoviscidosis and Biliary Atresia.- Infantile Neuroaxonal Dystrophy (Seitelberger Disease).- Clinical Features of Neuroaxonal Dystrophy.- Pathology of Neuroaxonal Dystrophy.- Infantile Hallervorden-Spatz Disease.- Axon Dystrophy Associated with Various Diseases.- References.