Moyamoya Disease Update (eBook)

Foreword 5
Preface 6
Contents 7
Contributors 12
Part I: Introduction 18
Chapter 1 19
Overview 19
Introduction 19
Definition and Diagnostic Criteria 19
Diagnosis 23
History 24
Why “Moyamoya” 25
Evolution of Research and Lessons from Moyamoya Disease 26
References 27
Chapter 2 28
Pathology of Moyamoya Disease 28
Introduction: Pathology of Moyamoya Disease 28
Histological Findings in Moyamoya Disease 29
Leptomeningeal Vessels 29
Vessels with Encephalo-myo-synangiosis 29
Perforators 30
Hemorrhage from Perforators 30
Molecular Analysis with Intracranial Vessels 31
Microbleeds in Moyamoya Disease 31
Epidemiology 32
Comparison with Moyamoya Syndrome 33
von Recklinghausen Disease 33
Irradiation 33
Down Syndrome 34
Postinfection 34
Endothelial Progenitor Cells in MMD 34
Genetic Analysis 35
Summary and Conclusion 35
References 35
Chapter 3 39
Unilateral Moyamoya Disease 39
Introduction 39
Clinical Features of Unilateral Moyamoya Disease 39
Progression of Unaffected Hemisphere 40
Management Plans 40
References 41
Part II: Epidemiology 42
Chapter 4 43
Epidemiology of Moyamoya Disease 43
Introduction 43
Prevalence and Incidence (Especially in Japan) 43
Gender Differences 44
Familial Occurrence 44
Age at Onset 45
Types of Clinical Findings 45
World Distribution of Moyamoya Disease 46
Conclusion 47
References 47
Chapter 5 49
Familial Moyamoya Disease 49
Introduction 49
Epidemiology 49
Mode of Inheritance 50
Diagnosis and Clinical Aspect 50
Research and Genetics on FMMD 50
References 51
Part III: Genetics 52
Chapter 6 53
Overview 53
Four Lines of Evidence for Involvement of Genetic Factors in the Etiology of Moyamoya Disease 53
The Presence of Familial Cases 53
Concordance in Identical Twins 53
Ethnic Differences in Incidence 54
Congenital Disorders with Moyamoya-Like Findings on Angiography 54
Approaches to Identify the Moyamoya Disease Genes 54
Identification of the First Gene Mutated in Moyamoya Disease 55
Conclusions 55
References 56
Chspter 7 58
Genetic Linkage Study 58
Chromosome 3p24-26 58
Chromosome 6 58
Chromosome 8q21-22 59
Chromosome 17q25 60
Chromosome 17q25.3 60
Conclusions 61
References 61
Chapter 8 63
Single Nucleotide Polymorphism and Moyamoya Disease 63
Introduction 63
Single Nucleotide Polymorphisms: A Brief Review 63
Moyamoya Disease and Single Nucleotide Polymorphisms 64
Conclusion 64
References 64
Chapter 9 66
HLA Studies in Moyamoya Disease 66
Introduction 66
HLA and Disease Associations 67
Genomic Organizations of HLA Genes 67
Mechanisms of HLA and Disease Associations 67
Statistical Analysis of HLA and Disease Associations 68
HLA Studies in MMD 68
HLA Class I Alleles Associated with MMD 68
HLA Class II Alleles Associated with MMD 69
Implications of HLA Associations with MMD 70
References 71
Part IV: Pathophysiology I: Protein, Cell, and Immunology 72
Chapter 10 73
Proteins, Cells, and Immunity in the Moyamoya Disease: An Overview 73
Introduction 73
Proteins 73
Cells 75
Immunity 76
References 77
Chapter 11 79
Vascular Smooth Muscle Cell-Related Molecules and Cells 79
References 81
Chapter 12 83
Ischemia/Angiogenesis-Related Molecules and Cells 83
Ischemia/Angiogenesis-Related Molecules 83
Fibroblast Growth Factor 83
Vascular Endothelial Growth Factor 84
Angiopoietins 85
Angiopoietin 1 85
Angiopoietin 2 85
Angiopoietins 3 and 4 85
Platelet-Derived Growth Factor 86
Epidermal Growth Factor 86
Transforming Growth Factor- b 86
Tumor Necrosis Factor- a 87
Integrins 87
Vascular Endothelial Cadherin 87
Platelet Endothelial Cell Adhesion Molecule 1 87
Matrix Metalloproteinases 88
Other Angiogenic Factors 88
Angiostatic Factors 88
MicroRNAs 88
Ischemia/Angiogenesis-Related Cells 89
Endothelial Progenitor Cells 89
Endothelial Cells 89
Mural Cells: Pericytes and Smooth Muscle Cells 90
References 90
Chapter 13 92
Immunological Aspects of Moyamoya Disease 92
Introduction 92
Pathological Evidence 92
Association with Autoimmune Diseases 93
Association with Infectious Diseases 94
Kawasaki, Takayasu, and Moyamoya Disease 94
Conclusions 95
References 95
Part V: Pathophysiology II: Hemodynamics, Biomechanical Aspect 97
Chapter 14 98
Hemodynamics 98
Introduction 98
Definition of a Fluid 98
Viscosity 99
Governing Equations (Poiseuille’s Law) 100
Laminar and Turbulent Flows 101
Blood Flow in Arteries 102
Pulsatile Flow 102
Properties of the Arterial Wall 103
Vascular Impedance 104
Conclusion 106
References 106
Chapter 15 108
Regional Predilection of Lesions and Stages of Moyamoya Disease 108
Introduction 108
Methods and Hemodynamic Factors That are Crucial to the Study of Regional Predilection of MMD 109
How Is the Hemodynamics in Distal ICA and/or BA? 109
Could This Hemodynamic Factor of Shear Stress Be an Etiology of This Predilection? 111
How Is the Hemodynamic Change Higher According to the Stage of MMD? 112
References 112
Part VI: Clinical Features 114
Chapter 16 115
Clinical Features of Moyamoya Disease: An Overview 115
Introduction 115
Ischemic Attacks 115
Intracranial Hemorrhage 116
Seizure, Headache, Involuntary Movement and Other Neurologic Symptoms 116
References 117
Chapter 17 118
Headache in Moyamoya Disease 118
Introduction 118
Headache as the Common Clinical Presentation of Moyamoya Disease 118
Headache and Revascularization Surgery 119
Conclusion 120
References 121
Chapter 18 122
Involuntary Movement 122
Introduction 122
Characteristics of the Patients 122
Symptoms 123
Mechanisms 123
Treatment 124
Conclusion 124
References 124
Chapter 19 126
Progression of Moyamoya Disease 126
Introduction 126
Angiographical Progression 126
Age and Progression 127
Unilateral to Bilateral 127
Those Who Are Likely to Progress 127
Mechanism of Progression 128
Progression of Clinical Sign 130
Imaging Studies to Detect Progression 131
Influence of Bypass Surgery to Progression 131
Conclusions 131
References 132
Chapter 20 134
Systemic Arterial Involvement in Moyamoya Disease 134
Introduction 134
Prevalence of Renal Arterial Involvement in Moyamoya Disease 134
Radiologic and Pathologic Findings of Renal Arteries Involved in Moyamoya Disease 136
Treatment of Renovascular Hypertension in Moyamoya Disease 137
Other Extracranial Artery Involvement in Moyamoya Disease 138
References 138
Chapter 21 140
Associated Neurosurgical Diseases 140
Introduction 140
Akin Moyamoya Disease (Quasi-Moyamoya Disease) 141
Association with Vascular Malformations: Arteriovenous Malformation 141
Association with Cavernous Malformation and Venous Malformation 144
References 146
Part VII: Diagnostic Evaluation I: Morphological Imaging 147
Chapter 22 148
Overview of Image Diagnosis of Moyamoya Disease 148
Digital Subtraction Angiography 148
CT Scan 148
Magnetic Resonance Image 150
Magnetic Resonance Angiography 152
3D-CTA 155
References 156
Chapter 23 157
Preoperative and Postoperative MRA 157
Diagnostic Criteria for Moyamoya Disease with MRA 157
Quality of MRA for the Diagnosis of Moyamoya Disease 158
Novel Staging of Moyamoya Disease 159
MRA Score 159
Postoperative MRA 162
References 163
Chapter 24 165
Diagnostic Evaluation: Morphological Imaging MRI 165
Introduction 165
Importance of MRI/MRA for the Management of Moyamoya Disease 165
Early Diagnosis 165
Evaluation of Treatment Strategies 166
Follow-Up 166
Morphological Evaluation 166
MRI 166
MRA 169
Hemodynamic Evaluation 171
Conclusions 172
References 172
Part VIII: Diagnostic Evaluation II: Functional Imaging 175
Chapter 25 176
Functional Neuroimagings “Overview” 176
Introduction 176
15 O-PET 177
CBF-SPECT 177
Stratification of Hemodynamic Cerebral Ischemia Using IMP-ARG Method 180
Statistical Imaging Analysis Using 3-Dimensional Stereotactic Surface Projections (3D-SSP) 181
Dual-Table ARG Method 183
Segmental Extraction Estimation 184
Perfusion MRI/CT 184
References 184
Chapter 26 186
Brain Perfusion SPECT in Moyamoya Disease 186
Imaging Techniques 186
Equipments and Radiopharmaceuticals 186
Acetazolamide-Stress Study 187
Imaging Protocols and Analysis Methods 187
Clinical Applications 188
Normal Brain Perfusion SPECT 188
Hemodynamic Changes in MMD 189
Preoperative Assessment 189
Postoperative Assessment 190
Other Issues with Spect 191
Postoperative Hyperperfusion Syndrome 191
Future Perspectives 192
References 192
Chapter 27 194
Iomazenil SPECT (BZP-Receptor) 194
Introduction 194
Kinetics of Iomazenil and the Indicator of the Intactness of the Cortical Neurons 195
Diagnosis of Incomplete Brain Infarction in Moyamoya Disease 196
Diagnosis of Higher Brain Dysfunction in Moyamoya Disease 199
References 201
Chapter 28 202
Perfusion Imaging in Moyamoya Disease 202
Introduction 202
MR Perfusion Imaging 203
CT Perfusion Imaging 206
Conclusion 208
References 208
Chapter 29 210
Positron Emission Tomography in Moyamoya Disease 210
Introduction 210
Hemodynamics of Moyamoya Disease as Examined by PET 211
Clinical Use of PET for Moyamoya Disease: Limitation and Resolution 212
Conclusion 216
References 216
Part IX: Diagnostic Evaluation III: Electrophysiology 218
Chapter 30 219
Electroencephalography (EEG) in Moyamoya Disease 219
Introduction 219
Electroencephalographic Changes in Moyamoya Disease 219
Pathophysiology of the Re-Build Up Phenomenon 220
Clinical Implications 222
Conclusion 222
References 222
Chapter 31 224
Magnetoencephalography (MEG): Its Application to Moyamoya Disease 224
Introduction 224
MEG Localization of Re-Build-Up Phenomenon 225
Hypoxic State Caused by Post-Hyperventilation Respiratory Depression 225
MEG as a Possible Diagnostic Indicator of Ischemia in Moyamoya Disease 227
References 228
Part X: Surgical Technique 229
Chapter 32 230
Overview 230
Introduction 230
Development of Surgical Procedures (Direct, Single Indirect, and Combined Bypass Procedures) 230
Direct Bypass Procedure: STA-MCA Anastomosis with Encephalo-Myo-Synangiosis (Fig. 1 ) 231
Various Kinds of Indirect Bypass Procedure 231
Management of Cases of Treatment Failure with Indirect Bypass Procedures 232
Selection of the Initial Surgical Procedure 234
Conclusion 234
References 234
Chapter 33 237
Moyamoya Disease and Anesthesia in Children 237
Introduction 237
Diagnosis, Classifications, Treatments and Outcomes 237
Diagnosis and Classifications 237
Treatment 238
Outcomes 238
Intraoperative Management 239
Premedication 239
Monitoring and Anesthesia 239
Postoperative Management 240
Conclusions 240
References 242
Chapter 34 244
ACA Territory Reinforcement 244
Introduction 244
Clinical Presentations and Importance of ACA Territory 244
Operations and Outcomes 245
Illustrative Case 246
Conclusions 249
References 249
Chapter 35 251
PCA Territory Reinforcement 251
Omental Transplantation 251
Omental Transposition 252
Encephaloduroarteriosynangiosis 253
Occipital Artery-Posterior Cerebral Artery Anastomosis 253
References 254
Chapter 36 255
Endovascular Treatment of Moyamoya Disease 255
Endovascular Treatment of Moyamoya Disease with Hemorrhagic Presentation 255
Endovascular Treatment of Intracranial Arterial Stenosis of Moyamoya Disease 258
Conclusion 262
References 262
Part XI: Surgical Outcome 264
Chspter 37 265
Overview 265
Introduction 265
Indication and Timing of RV 266
Comparison of the Outcomes of Various Revascularization Procedures 268
Comparison of Outcomes Among Indirect Procedures 268
Comparison of Outcomes Between Indirect and Combined Procedures 272
Selection of Surgical Procedure 272
Conclusion 273
References 274
Chapter 38 277
Risk Factors for Complication 277
Introduction 277
Perioperative Cerebral Ischemia 277
Cerebral Hyperperfusion 279
Risk Factors for Cerebral Hyperperfusion Syndrome 281
References 281
Chapter 39 283
Cognition and Quality of Life 283
Introduction 283
Pediatric Patients 283
Adult Patients 285
Conclusions 285
References 285
Part XII: Special Consideration I 287
Chapter 40 288
Overview: Issues in Young Children and Adults 288
Introduction 288
Common Genetic Background of Childhood and Adult-Onset Moyamoya Disease 288
Clinical Presentation of Childhood and Adult-Onset Moyamoya Disease 289
Diagnosis 289
Revascularization Surgery for Moyamoya Disease in Children and Adults 290
Difference in the Risk of Surgical Complication Between Children and Adult Patients 291
References 293
Chapter 41 295
Moyamoya Disease in Young Children 295
Introduction 295
Illustrative Case 296
Rapid Progression of Disease 296
Surgery-Related Ischemic Complication 297
Overall Management Outcome 298
Site of the First Surgery: Infarcted Hemisphere Versus Contralateral Noninfarcted Hemisphere 299
Future Perspectives: Rapid Revascularization and Screening of High-Risk Patients 299
References 300
Chapter 42 301
Moyamoya Disease in Adult: Management of Hemorrhage 301
Overview of Intracranial Hemorrhage in Moyamoya Disease 301
Management of Hemorrhagic Moyamoya Disease During the Acute Period 301
Prevention of Rebleeding in the Chronic Stage 303
Design of the JAM Trial 304
Patient Eligibility and Randomization 304
Treatment and Follow-Up 305
Outcome Events 306
Status of the JAM Trial 306
References 306
Chapter 43 307
Moyamoya Disease in Adult: Post-Bypass Symptomatic Hyperperfusion 307
Introduction 307
Direct Bypass in Adult MMD 308
Post-Bypass Symptomatic Hyperperfusion in Adult MMD 308
Definition 308
Incidence 310
Pathophysiology 310
Clinical Manifestation 312
Imaging 312
Exemplary Case 313
Preoperative Prognostics 314
Treatment 315
Conclusion 317
References 317
Part XIII: Special Consideration II 319
Chapter 44 320
Moyamoya Syndrome: Pial Synangiosis 320
Introduction 320
Incidence and Epidemiology 321
Clinical Features and Presentation 321
Rationale for Treatment 322
Surgical Treatment: Overview 322
Pial Synangiosis: Technique 323
Pial Synangiosis: Indications 324
Perioperative Considerations 326
Management Considerations for Subgroups of Patients with Moyamoya Syndrome Which Differ from Moyamoya Disease 326
Complications and Follow-Up 327
Conclusions 328
References 329
Chapter 45 330
Pregnancy and Delivery in Moyamoya Disease 330
Introduction 330
Pregnancy and Cerebrovascular Diseases 330
Moyamoya Disease and Pregnancy 331
Nationwide Survey in Japan on Management of Pregnancy and Delivery in Women with Moyamoya Disease 332
Management of Pregnancy and Delivery in Women with Moyamoya Disease 333
References 333
Chapter 46 335
Asymptomatic Moyamoya Disease 335
Introduction 335
Definition 336
Epidemiology 336
Radiological Findings 336
Outcome 337
Conclusions 338
References 339
Chapter 47 340
Hyperthyroidism in Moyamoya Disease 340
Introduction 340
References 341
Chapter 48 343
Enhancer of Revascularization, Gene and Stem Cell Therapies 343
Introduction 343
Gene Therapy for Cerebral Ischemia 344
Cell Therapy for Cerebral Ischemia 345
Conclusion 346
References 346
Part XIV: Special Consideration III 349
Chapter 49 350
Moyamoya Disease in North America 350
Introduction 350
Epidemiologic Features 351
Disease Presentation 352
Natural History 354
Treatment 354
Outcome 355
Conclusions 355
References 356
Chapter 50 358
Moyamoya Angiopathy in Europe 358
Introduction 358
Patients and Methods 359
Results and Discussion 361
Conclusion 364
References 364
Chapter 51 367
Moyamoya Disease in China 367
Introduction 367
Pathophysiological Features 367
Clinical Presentation 368
Treatment 369
References 369
Part XV: Future Perspectives 371
Chapter 52 372
Future Perspectives in Moyamoya Disease 372
Introduction 372
Outcome Evaluation 372
Clinical Outcome Measurements 372
Angiographic Evaluation of Revascularization 373
Hemodynamic Evaluation 374
Evaluation of Cognitive Function 375
Functional Status and Quality of Life Measurements 375
Treatment Aspects 375
Current Surgical Methods 375
Experimental Treatment of Ischemic Injury 376
Prevention of Disease 376
References 377
Index 378