Congenital Brain Malformations : Clinical and Surgical Aspects

• Autore: AlAli Khaled Fares
• Pubblicazione: Cham : , : Springer International Publishing AG, , 2024; ©2024
• Edizione: 1st ed.
• Descrizione fisica: 1 online resource (335 pages)
• Altri autori: HashimHashim Talib
• Nota di contenuto: Intro -- Preface -- Contents -- Contributors -- Chapter 1: General Introduction to the Congenital Brain Malformations -- 1.1 Introduction -- 1.2 Epidemiology -- 1.3 Diagnosis of These Malformations -- 1.4 The Management and the Prognosis -- 1.5 The Complications of Congenital Brain Malformations -- References -- Chapter 2: The Epidemiology of Congenital Brain Anomalies -- 2.1 Introduction -- 2.2 Anencephaly -- 2.3 Cephalocele -- 2.4 Chiari Malformations -- 2.5 Porencephaly -- 2.6 Septo-Optic Dysplasia -- 2.7 Pituitary Maldevelopement -- 2.8 Posterior Fossa Malformation -- 2.9 Microcephaly -- 2.10 Megalencephaly and Hemimegalencephaly -- 2.11 Neurocutaneous Syndromes -- 2.12 Schizencephaly -- 2.13 Lissencephaly -- 2.14 Heterotopia -- 2.15 Polymicrogyria -- 2.16 Encephalopathy Disorders -- References -- Chapter 3: Diagnosis of Congenital Brain Anomalies -- 3.1 Introduction -- 3.2 Prenatal Diagnosis: Limitations and Risks Associated with Each Method -- 3.2.1 Routine Ultrasounds Screening: Timings and Indications -- 3.2.2 Maternal Blood Tests for Risk Assessment -- 3.2.3 Fetal MRI: Benefits and Limitations -- 3.2.4 Amniocentesis and Genetic Testing -- 3.3 Postnatal Diagnosis -- 3.3.1 The Significance of Neonatal Examinations and Clinical Presentation -- 3.3.2 MRI and CT: Benefits and Limitations -- 3.3.3 Postnatal Genetic Testing -- 3.3.4 Electrophysiological Tests Electrocardiography (ECG) -- 3.4 Conclusion -- References -- Chapter 4: Anencephaly -- 4.1 Introduction -- 4.2 Pathophysiology -- 4.2.1 Nutritional Factors -- 4.2.2 Dietary Factors -- 4.3 Diagnosis -- 4.3.1 History and Physical Examination -- 4.3.2 Lab Studies -- 4.3.3 Imaging Studies -- 4.4 Management -- References -- Chapter 5: Encephalocele -- 5.1 Introduction -- 5.1.1 Classification -- 5.2 Etiology and Pathogenesis -- 5.2.1 Genetic Etiologies of Primary Encephalocele. ; 5.2.2 Environmental Etiologies of Primary Encephalocele -- 5.3 Clinical Presentation -- 5.3.1 Occipital Encephalocele -- 5.3.2 Sincipital Encephalocele -- 5.3.3 Basal Encephalocele -- 5.3.4 Associated Anomalies -- 5.4 Diagnosis -- 5.4.1 Neuroimaging -- Ultrasonography -- MRI -- CT Scan -- 5.4.2 Multimaterial 3D Printing Modeling -- 5.4.3 Genetic Studies and Counseling -- 5.5 Differential Diagnosis -- 5.6 Management -- 5.6.1 Occipital Encephalocele -- Sincipital Encephalocele -- Basal Encephalocele -- 5.7 Complications -- 5.8 Prognosis -- References -- Chapter 6: Chiari Malformation -- 6.1 Introduction -- 6.2 Anatomical Basis of the Disease -- 6.3 The Classification of Chiari Malformation -- 6.4 Chiari Type I -- 6.5 Chiari Type II -- 6.6 Chiari Malformation Type III -- 6.7 Diagnosis of Chiari Malformation -- 6.8 Management of Chiari Malformation -- References -- Chapter 7: Porencephaly -- 7.1 Introduction -- 7.2 Epidemiology -- 7.3 Etiology -- 7.4 Pathology -- 7.5 Clinical Manifestation -- 7.6 Diagnosis -- 7.7 Management -- 7.8 Differential Diagnosis -- 7.9 Prognosis -- References -- Chapter 8: Septo-Optic dysplasia -- 8.1 Introduction -- 8.2 Embryology -- 8.3 Etiology -- 8.4 Pathophysiology -- 8.4.1 Environmental Factors -- 8.4.2 Genetic Factors -- 8.5 Diagnosis -- 8.5.1 History -- 8.5.2 Examination -- 8.5.3 Investigations -- 8.6 Treatment -- References -- Chapter 9: Pituitary Maldevelopment -- 9.1 Embryology -- 9.1.1 Rathke Pouch -- 9.1.2 Signals Controlling Pituitary Development -- 9.1.3 Cells Differentiation -- 9.2 Anatomy and Physiology -- 9.2.1 Anatomy -- Adenohypophysis -- Neurohypophysis -- Vascularization -- Innervation -- 9.2.2 Physiology -- 9.3 Pituitary Developmental Factor Mutation -- 9.3.1 Prop1 -- 9.3.2 Pit1 -- 9.3.3 Shh-Gli2 -- 9.3.4 Hesx1 -- 9.3.5 Lhx 3/4 -- 9.3.6 Other Transcription Factor Deficiency -- References. ; Chapter 10: Posterior Fossa Malformation -- 10.1 Introduction -- 10.2 Malformations of the Posterior Fossa -- 10.2.1 Diseases with Cerebellar Agenesis, Aplasia or Hypoplasia -- 10.2.2 Rhombencephalosynapsis -- 10.2.3 Vermian-Cerebellar Hypoplasia -- 10.2.4 Lhermitte-Duclos Disease -- 10.2.5 Walker-Warburg Syndrome -- 10.2.6 Joubert Syndrome -- 10.2.7 Cystic Posterior Fossa Anomalies -- 10.2.8 Chiari Malformations -- References -- Chapter 11: Microcephaly -- 11.1 Introduction -- 11.2 Etiology and Pathogenesis -- 11.2.1 Genetic Etiologies of Primary Microcephaly -- 11.2.2 Environmental Etiologies of Primary Microcephaly -- 11.3 Diagnosis -- 11.3.1 History and Clinical Presentation -- 11.3.2 Physical Examination -- 11.3.3 Neuroimaging -- 11.3.4 Biochemical Tests and Virology -- 11.3.5 Genetic Studies -- 11.4 Management and Prevention -- 11.5 Complications -- 11.6 Prognosis -- References -- Chapter 12: Megalencephaly and Hemimegalencephaly -- 12.1 Introduction -- 12.2 Pathogenesis -- 12.2.1 Metabolic Megalencephaly -- 12.2.2 Anatomic Megalencephaly -- 12.3 Classifications -- 12.3.1 Megalencephaly -- 12.3.2 Benign Familial Megalencephaly (BFM) -- 12.3.3 Metabolic Megalencephaly -- 12.3.4 Defects of Organic Acids -- 12.3.5 Metabolic Leukoencephalopathies -- 12.3.6 Lysosomal Storage Diseases -- 12.3.7 Anatomical Megalencephaly -- 12.3.8 Megalencephaly with Dwarfism [23] -- 12.3.9 Megalencephaly with Gigantism [21] -- 12.3.10 Megalencephaly with Syndromes [22, 23] -- 12.3.11 Pretzel Syndrome [8, 24, 25] -- 12.4 Hemimegalencephaly -- 12.4.1 Isolated [28] -- 12.4.2 Syndromic [29-31] -- 12.4.3 Total Hemimegalencephaly [28] -- 12.5 Clinical Presentation -- 12.5.1 Clinically Significant Megalencephaly Are Characterized by 1 or More of the Following: [38] -- 12.6 Diagnosis -- 12.6.1 Megalencephaly [39, 40] -- 12.6.2 Hemimegaloencephaly. ; 12.7 Management and Prognosis -- References -- Chapter 13: Neurocutaneous Syndromes -- 13.1 Introduction -- 13.2 Etiology & -- Pathophysiology -- 13.3 Clinical Features -- 13.3.1 Neurofibromatosis Type 1 -- 13.3.2 Neurofibromatosis Type 2 -- 13.3.3 Tuberous Sclerosis -- Dermatological -- Other Dermatological Features Include -- Other Organs -- 13.3.4 Sturge-Weber Syndrome -- 13.3.5 Ataxia Telangiectasia -- 13.4 Diagnostic Evaluation -- 13.4.1 Neurofibromatosis Type 1 -- 13.4.2 Neurofibromatosis Type 2 -- 13.4.3 Tuberous Sclerosis -- 13.4.4 Sturge-Weber syndrome -- 13.4.5 Ataxia Telangiectasia -- 13.5 Treatment and Prognosis -- References -- Chapter 14: Schizencephaly -- 14.1 Introduction -- 14.2 Epidemiology -- 14.3 Clinical Presentations of Schizencephaly -- 14.4 Diagnosis -- 14.5 Management -- 14.6 Complications and Prognosis -- 14.7 Conclusion -- References -- Chapter 15: Lissencephaly -- 15.1 Introduction -- 15.2 Types of Lissencephaly -- 15.2.1 Lissencephaly Type I -- 15.2.2 Lissencephaly Type II -- 15.3 Epidemiology -- 15.3.1 Incidence -- 15.3.2 Prevalence -- 15.4 Etiology -- 15.4.1 Non-Genetic Factors -- 15.4.2 Genetic Factors -- X-Linked [3, 4] -- Chromosome 17-Linked [3, 4] -- Some of the Better-Studied Genetic Causes Are Listed Below -- LIS1 -- DCX (X-Linked Lissencephaly Type 1/XLIS 1 or LISX 1) -- ARX (X-Linked Lissencephaly Type 2/XLIS 2 or LISX 2) -- RELN -- 15.5 Signs and Symptoms -- 15.6 Diagnosis -- 15.7 Treatment -- 15.8 Prognosis -- References -- Chapter 16: Heterotopias -- 16.1 Introduction -- 16.2 Anatomy and Physiology of the Brain and Gray Matter -- 16.3 Overview of Gray Matter Heterotopias -- 16.4 Types of Gray Matter Heterotopias -- 16.4.1 Nodular or Focal Heterotopia -- Subependymal or Periventricular Heterotopia -- Focal Subcortical Heterotopia -- 16.4.2 Diffuse Heterotopia -- Band or Double Cortex Heterotopia. ; 16.5 Subcortical Band Heterotopia's Association with Lissencephaly -- 16.5.1 Type 1 Lissencephaly -- 16.5.2 Type 2 Lissencephaly -- 16.6 Treatment of Gray Matter Heterotopias -- References -- Chapter 17: Polymicrogyria -- 17.1 Introduction -- 17.2 Etiology and Molecular Basis -- 17.2.1 Genetics -- 17.2.2 Acquired Etiologies -- 17.3 Pathology -- 17.4 Clinical Features -- 17.4.1 Epileptic Seizures -- 17.4.2 Developmental Delay -- 17.4.3 Motor Affection -- 17.4.4 Head Changes -- 17.4.5 Other Neurological Changes -- 17.4.6 Psychiatric Manifestations -- 17.4.7 Other Clinical Manifestations -- 17.5 Diagnosis -- 17.5.1 Imaging Modalities for PMG -- 17.6 Management -- 17.6.1 Surgical Intervention -- 17.7 Differential Diagnosis -- References -- Chapter 18: Encephaloclastic Lesions of the Central Nervous System -- 18.1 Introduction -- 18.1.1 Overview -- 18.1.2 Historical Background -- 18.2 Epidemiology -- 18.3 Pathophysiology -- 18.4 Predisposing and Risk Factors -- 18.5 Classification of Encephaloclastic Disorders -- 18.6 MS Management -- 18.7 Clinical Presentation -- 18.8 Differential Diagnosis -- 18.9 Diagnostic Workup -- 18.10 Treatment Strategies -- 18.11 Prognosis and Outcomes -- 18.12 Future Directions and Research -- References -- Chapter 19: Cerebral Palsy -- 19.1 Introduction -- 19.2 Classification of Cerebral Palsy -- 19.2.1 According to Severity -- 19.2.2 Topographical Classification -- 19.2.3 Classification Based on Muscle Tone -- 19.2.4 Functional Classification -- 19.3 Risk Factors of Cerebral Palsy -- 19.4 Clinical Presentation of Cerebral Palsy -- 19.4.1 Spastic Cerebral Palsy -- 19.4.2 Ataxic Cerebral Palsy -- 19.4.3 Athetoid Cerebral Palsy -- 19.4.4 Hypotonic Cerebral Palsy -- 19.5 Diagnosis and Screening -- 19.5.1 Clinical Assessment -- Prechtl Qualitative Assessment of General Movements (GMs). ; Hammersmith Infant Neurological Examination (HINE).
• Titolo autorizzato: Congenital Brain Malformations
• ISBN: 3-031-58630-1
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910864198503321
• Lo trovi qui: Univ. Federico II