Contents 1 Normal Histology and Commonly Used Stains.... 1 1.1 Cells of the Nervous System... 1 1.1.1 Neurons... 1 1.1.2 Astrocytes.... 2 1.1.3 Oligodendrocytes... 5 1.1.4 Schwann Cells... 5 1.1.5 Ependyma.... 6 1.1.6 Microglia... 7 1.1.7 Supporting Tissues... 8 1.2 General Architecture of the Nervous System... 8 1.2.1 Grey and White Matter.... 8 1.2.2 Peripheral Nerve.... 9 1.2.3 Ganglia... 10 1.2.4 Skeletal Muscle... 10 1.3 Commonly Used Stains in Neuropathology... 11 1.3.1 Tinctorial Stains................................ 11 1.3.2 Immunohistochemical Preparations... 13 References... 15 2 Basic Pathologic Reactions... 17 2.1 Neurons... 17 2.1.1 Neuronal Atrophy and Neuronal Loss............... 17 2.1.2 Hypoxic-Ischaemic Change... 17 2.1.3 Central Chromatolysis... 18 2.1.4 Abnormal Inclusions... 18 2.1.5 Axonal Alterations... 19 2.2 Astrocytes... 21 2.2.1 Gliosis.... 21 2.2.2 Alzheimer Type II Astrocyte... 23 2.2.3 Rosenthal Fibers.... 23 ix
x Contents 2.2.4 Eosinophilic Granular Bodies... 23 2.2.5 Corpora Amylacea... 23 2.3 Oligodendrocytes... 25 2.3.1 Demyelination... 25 2.3.2 Inclusions... 25 2.4 Ependyma... 26 2.4.1 Atrophy.... 26 2.4.2 Discontinuity... 26 2.4.3 Granulations... 26 2.5 Microglia.... 27 2.5.1 Diffuse Microglial Activation and Microglial Nodules... 27 References... 28 3 Requesting and Interpreting Pathological Tests... 29 3.1 Neurosurgical Specimens... 30 3.2 Muscle and Nerve Biopsies.... 31 3.3 Cerebrospinal Fluid.... 32 3.4 Skin Biopsies.... 33 3.5 Other Samples... 33 4 Vascular Diseases... 35 4.1 Vascular Anatomy... 35 4.1.1 Arterial Supply... 35 4.1.2 Venous Drainage.... 38 4.2 Diseases Affecting the Blood Vessels... 38 4.2.1 Atherosclerosis... 38 4.2.2 Small Vessel Disease... 38 4.2.3 Amyloid Angiopathy... 40 4.2.4 Hereditary Vascular Diseases... 41 4.2.5 Vasculitides.... 43 4.2.6 Vascular Malformations... 46 4.2.7 Aneurysms... 47 4.3 Consequences of Cerebrovascular Diseases... 50 4.3.1 Ischaemia and Infarction... 50 4.3.2 Haemorrhage... 54 References... 55 5 Infections.... 57 5.1 Bacterial Infections... 58 5.1.1 Acute Bacterial Meningitis.... 58 5.1.2 Abscess.... 60 5.1.3 Chronic Bacterial Infections.... 62 5.2 Viral Infections... 65 5.2.1 Aseptic Meningitis... 65 5.2.2 Encephalitis or Encephalomyelitis... 65
Contents xi 5.3 Fungal Infections.... 72 5.4 Parasitic Infections... 72 5.4.1 Protozoal Infections... 72 5.4.2 Metazoal/Helminthic Infections.... 76 5.5 Role of Brain Biopsy in Infectious Diseases.... 77 References... 78 6 Tumours of Central Nervous System... 79 6.1 Classification.... 79 6.2 Sending Specimens to the Laboratory.... 80 6.3 Gliomas... 81 6.3.1 Astrocytic Tumours... 81 6.3.2 Genetics of Gliomas... 85 6.3.3 Non-astrocytic Gliomas... 86 6.4 Neuronal Tumours With or Without Glial Features... 89 6.4.1 Gangliocytoma and Ganglioglioma... 89 6.4.2 Dysembryoplastic Neuroepithelial Tumour... 90 6.4.3 Central Neurocytoma... 90 6.4.4 Desmoplastic Infantile Astrocytoma/Ganglioglioma... 91 6.4.5 Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Syndrome).... 91 6.5 Embryonal Tumours... 92 6.5.1 Medulloblastoma... 92 6.5.2 Primitive Neuroectodermal Tumour.... 93 6.5.3 Atypical Teratoid/Rhabdoid Tumour................ 93 6.6 Pineal Region Tumours.... 93 6.7 Choroid Plexus Tumours.... 93 6.8 Meningeal Tumours... 94 6.8.1 Meningiomas... 94 6.8.2 Other Tumours of the Meninges.... 95 6.9 Pituitary Region Tumours... 96 6.10 Lymphomas.... 98 6.11 Tumours of the Peripheral Nerves.... 99 6.12 Other Tumours Affecting the CNS... 101 References... 102 7 Demyelinating Diseases... 103 7.1 Multiple Sclerosis...................................... 103 7.1.1 Classic Multiple Sclerosis... 104 7.1.2 Acute Multiple Sclerosis... 105 7.1.3 Concentric Sclerosis.... 105 7.2 Neuromyelitis Optica (Devic s Disease).... 106 7.3 Acute Disseminated Encephalomyelitis... 109 7.4 Acute Haemorrhagic Leukoencephalopathy... 109 7.5 Trigeminal Neuralgia... 110 References... 111
xii Contents 8 Epilepsy.... 113 8.1 Rasmussen s Encephalitis... 114 8.2 Focal Cortical Dysplasia... 114 8.3 Hippocampal Sclerosis... 115 8.4 Sudden Unexpected Death in Epilepsy (SUDEP).... 116 References... 117 9 Muscle Diseases... 119 9.1 Muscle Biopsy Technique.... 120 9.2 Laboratory Preparation.................................. 120 9.3 Normal Structure of Muscle... 122 9.4 General Pathological Reactions... 126 9.5 Muscular Dystrophies... 128 9.5.1 Dystrophin-Related Muscular Dystrophies... 128 9.5.2 Limb Girdle Muscular Dystrophies... 130 9.5.3 Congenital Muscular Dystrophies... 132 9.5.4 Other Muscular Dystrophies... 132 9.6 Congenital Myopathies... 133 9.7 Myofibrillar Myopathies... 137 9.8 Metabolic Myopathies.... 137 9.9 Inflammatory Muscle Disease.... 139 9.10 Toxic Myopathies... 145 9.11 Neurogenic Disorders................................... 145 References... 146 10 Peripheral Nerve Diseases... 147 10.1 Nerve Biopsy Technique... 149 10.2 Laboratory Preparation.................................. 149 10.3 Normal Structure of Peripheral Nerve... 150 10.4 General Pathological Reactions... 150 10.5 Inflammatory Neuropathies.... 153 10.5.1 Guillain-Barre Syndrome... 153 10.5.2 Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)... 153 10.5.3 Multifocal Motor Neuropathy with Conduction Block... 153 10.5.4 Idiopathic Perineuritis... 154 10.5.5 Sarcoidosis... 154 10.5.6 Vasculitis... 154 10.6 Neuropathies Associated with Infectious Disease... 155 10.6.1 Leprosy.... 155 10.6.2 Human Immunodeficiency Virus... 156 10.6.3 Lyme Disease... 156 10.6.4 Diphtheria.... 156 10.7 Toxic Neuropathies... 156 10.8 Metabolic and Nutritional Neuropathies.... 157
Contents xiii 10.8.1 Diabetes Mellitus... 157 10.8.2 Uraemia... 157 10.9 Neuropathies Associated with Paraprotein... 157 10.10 Amyloid Neuropathies... 159 10.11 Miscellaneous Neuropathies... 161 10.11.1 Paraneoplastic Neuropathy.... 161 10.11.2 Critical Illness Neuromyopathy.................... 161 10.11.3 Carpal Tunnel Syndrome... 161 10.12 Hereditary Neuropathies... 161 10.13 Skin Biopsy in Small Fibre Neuropathies.... 163 References... 165 11 Metabolic, Toxic and Nutritional Diseases... 167 11.1 Metabolic Diseases..................................... 167 11.1.1 Hypoglycaemia.... 167 11.1.2 Electrolyte Imbalance.... 168 11.1.3 Hepatic Encephalopathy.... 171 11.1.4 Wilson s Disease... 171 11.1.5 Uraemic Encephalopathy... 172 11.1.6 Amino Acid Disorders........................... 172 11.1.7 Urea Cycle Disorders... 172 11.1.8 Porphyrias.... 173 11.1.9 Lysosomal and Peroxisomal Disorders... 173 11.1.10 Mitochondrial Disorders.... 177 11.2 Toxic Disorders... 177 11.2.1 Ethanol... 177 11.3 Nutritional Deficiencies... 178 References... 182 12 Neurodegenerative Disorders... 183 12.1 Dementia... 185 12.1.1 Alzheimer s Disease.... 185 12.1.2 Dementia with Lewy Bodies... 187 12.1.3 Frontotemporal Lobar Degeneration... 188 12.1.4 Prion Diseases... 191 12.2 Disorders Predominantly Affecting the Basal Ganglia.... 195 12.2.1 Huntington s Disease... 196 12.2.2 Neurodegeneration with Brain Iron Accumulation... 196 12.2.3 Neuroacanthocytosis... 196 12.3 Disorders Predominantly Affecting the Midbrain.... 197 12.3.1 Parkinson s Disease... 197 12.3.2 Progressive Supranuclear Palsy... 199 12.3.3 Multiple System Atrophy... 200 12.3.4 Corticobasal Degeneration... 201 12.3.5 Other Disorders... 201
xiv Contents 12.4 Cerebellar Degeneration... 202 12.5 Motor Neuron Diseases.... 202 12.5.1 Motor Neuron Disease........................... 202 12.5.2 X-Linked Bulbar Spinal Muscular Atrophy (Kennedy s Disease)... 204 12.5.3 Spinal Muscular Atrophy... 204 12.6 Hereditary Spastic Paraparesis... 205 References... 205 13 Trauma... 207 13.1 Focal Injury... 208 13.1.1 Scalp Injury... 208 13.1.2 Skull Fractures... 208 13.1.3 Brain Contusions and Lacerations... 209 13.2 Traumatic Intracranial Haemorrhage... 210 13.2.1 Extradural Haemorrhage... 210 13.2.2 Subdural Haemorrhage.... 210 13.2.3 Subarachnoid Haemorrhage... 211 13.2.4 Parenchymal Haemorrhage... 211 13.2.5 Intraventricular Haemorrhage... 211 13.3 Other Localised Injury... 211 13.3.1 Focal Vascular Injury... 211 13.3.2 Pituitary Gland Infarction.... 212 13.3.3 Brain Stem Avulsion... 212 13.3.4 Cranial Nerve Avulsion... 212 13.4 Diffuse Brain Injury... 213 13.4.1 Diffuse Axonal Injury... 213 13.4.2 Diffuse Vascular Injury... 213 13.4.3 Brain Swelling and Ischaemia... 213 13.4.4 Fat Embolism... 215 13.5 Missile Head Injury.... 217 13.6 Inflicted Head Injury in Childhood... 217 13.7 Chronic Traumatic Encephalopathy... 217 13.8 Spinal Cord Injury.... 218 References... 218 14 Paediatric Diseases.... 219 14.1 Congenital Malformations... 219 14.1.1 Neural Tube Defects.... 220 14.1.2 Chiari Malformations... 221 14.1.3 Disorders of Forebrain Induction... 221 14.1.4 Neuronal Migration Disorders..................... 223 14.1.5 Encephaloclastic Defects... 226 14.1.6 Microcephaly, Megalencephaly, Hemi-megalencephaly.... 227 14.1.7 Cerebellar, Brainstem and Spinal Cord Malformations... 227
Contents xv 14.2 Hydrocephalus.... 229 14.3 Perinatal Diseases...................................... 229 14.3.1 Hypoxic-Ischaemic Neuronal Injury... 229 14.3.2 White Matter Lesions... 230 14.3.3 Cerebral Haemorrhages... 231 14.3.4 Hypoglycaemia.... 231 14.3.5 Kernicterus... 232 14.3.6 Infections... 232 14.3.7 Rare Neurodegenerative Diseases... 232 References... 233 15 Autopsies... 235 References... 236 Appendix 1. Suggested Reading... 239 Index... 241
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