Developmental Neuropathology

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.