Mitochondrial Case Studies
Underlying Mechanisms and Diagnosis
- 1st Edition - December 8, 2015
- Latest edition
- Editors: Russell Saneto, Sumit Parikh, Bruce H Cohen
- Language: English
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diver… Read more
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments.
- Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis
- Provides information on underlying mechanisms of mitochondrial disease
- Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
geneticists, neurologists, residents, fellows, and physicians in internal medicine and pediatrics; researchers in genetics, cell biology, and neurology.
- Contributors
- Preface
- Chapter 1. Introduction: Mitochondrial Medicine
- Introduction
- Overview of Mitochondrial Structure and Function
- A Brief History of Clinical Mitochondrial Medicine and Clinical Features
- Part I. Mitochondrial DNA Encoded Diseases
- Chapter 2. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
- Case Presentation
- Introduction
- Pathophysiology
- Diagnostic Approach
- Differential Diagnosis
- Treatment
- Clinical Pearls
- Chapter 3. MERRF: Myoclonus Epilepsy and Ragged Red Fibers
- Case Presentations
- Differential Diagnosis
- Treatment Strategies
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 4. Pearson Syndrome
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategies
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 5. Kearns–Sayre Syndrome
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach and Pathophysiology
- Treatment
- Long-Term Outcome
- Clinical Pearls
- Chapter 6. Chronic Progressive External Ophthalmoplegia (CPEO)
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 7. Leber Hereditary Optic Neuropathy
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Case Management
- Clinical Pearls
- Chapter 8. Leigh Syndrome
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach and Pathophysiology
- Treatment
- Clinical Pearls
- Chapter 9. Neuropathy, Ataxia, and Retinitis Pigmentosa
- Case Presentation
- Differential Diagnosis and Diagnostic Approach
- Clinical Presentation
- Pathophysiology
- Treatment
- Clinical Pearls
- Chapter 10. Maternally Inherited (Mitochondrial) Diabetes
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 11. Sporadic Myopathy
- Case Presentations
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Clinical Pearls
- Chapter 2. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
- Part II. Nuclear Encoded Diseases
- Chapter 12. Pyruvate Dehydrogenase Complex Deficiency
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Effects on Brain Pathology Pre- and Postnatally
- Clinical Pearls
- Chapter 13. Friedreich Ataxia
- Case Presentation
- Differential Diagnosis and Diagnostic Approach
- Clinical Presentation
- Pathophysiology
- Treatment
- Clinical Pearls
- Chapter 14. Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome
- Introduction
- Diagnostic Pipeline
- Case Studies
- Discussion
- Clinical Pearls
- Chapter 15. Reversible Infantile Respiratory Chain Deficiency
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 16. Childhood Alpers-Huttenlocher Syndrome
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Clinical Pearls
- Chapter 17. Juvenile Alpers-Huttenlocher Syndrome
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Treatment
- Clinical Pearls
- Chapter 18. Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Clinical Pearls
- Case Management
- Chapter 19. Infantile-Onset Spinocerebellar Ataxia (IOSCA)
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 20. MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 21. Mitochondrial DNA Depletion Syndromes Presenting in Childhood
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Clinical Pearls
- Chapter 22. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 23. TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Testing Strategy
- Pathophysiology
- Clinical Pearls
- Chapter 24. Autosomal Dominant Optic Atrophy
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Case Management
- Clinical Pearls
- Chapter 25. Childhood-Onset Peripheral Neuropathy with Cognitive Decline
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Clinical Pearls
- Chapter 26. Brain-Specific Mitochondrial Aminoacyl-tRNA Synthetase Disorders: Mitochondrial Arginyl-Transfer RNA Synthetase Deficiency
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Pathophysiology
- Clinical Pearls
- Chapter 27. Mitochondrial Aminoacyl-tRNA Synthetase Disorders Not Generally Affecting Brain
- Case Presentations
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 28. Defects in Post-Transcriptional Modification of Mitochondrial Transferase RNA: A Patient with Possible Mitochondrial-tRNA Translation Optimization Factor 1, MTO1 Dysfunction
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Pathophysiology
- Clinical Pearls
- Chapter 29. Complex I Deficiency
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 30. Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Long-Term Outcome and Treatment Strategy
- Pathophysiology of Disease
- Clinical Pearls
- Chapter 31. BCS1L Mutations as a Cause of Björnstad Syndrome–GRACILE Syndrome Complex III Deficiency
- Case Presentations
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 32. Complex IV
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 33. Complex V Disorders
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology
- Clinical Pearls
- Chapter 34. Primary Cerebellar CoQ10 Deficiency
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 35. Multisystemic Infantile CoQ10 Deficiency with Renal Involvement
- Case Presentation
- Differential Diagnosis
- Diagnostic Approach
- Treatment Strategy
- Long-Term Outcome
- Pathophysiology/Neurobiology of Disease
- Clinical Pearls
- Chapter 12. Pyruvate Dehydrogenase Complex Deficiency
- Index
- Edition: 1
- Latest edition
- Published: December 8, 2015
- Language: English
RS
Russell Saneto
Russell P. Saneto is a pediatric neurologist who specializes in diagnosis and treatment of mitochondrial disorders and intractable epilepsy. His PhD was in human biochemical genetics was obtained at the University of Texas Medical Branch. His medical degree was obtained from the Des Moines University of Osteopathic Medicine and he did his pediatric, pediatric neurology, and pediatric neurophysiology fellowship at the Cleveland Clinic in Ohio. He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children’s Hospital over the past 15 years. He is currently the Head of the Mitochondrial Medicine group at Seattle Children’s and is a professor in the department of Neurology and adjunct Professor in Pediatrics. He has appointments in both Pediatrics and Neurology at Seattle Children’s and University of Washington.
Affiliations and expertise
Department Neurology/Division Pediatric Neurology, Seattle Children’s and University of Washington, Seattle, WA USASP
Sumit Parikh
Sumit Parikh, MD is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He serves as the current chair of the United Mitochondrial Disease Foundation Scientific & Medical Advisor Board. He is the immediate Past-President of the Mitochondrial Medicine Society.
Affiliations and expertise
Associate Professor of Neurology and Pediatrics, Cleveland Clinic Lerner College of Medicine & Case Western Reserve University, Cleveland, OH, USA; Director of the Neurogenetics, Metabolism and Mitochondrial Disease Center, Cleveland Clinic, Cleveland, OH, USABC
Bruce H Cohen
Affiliations and expertise
Professor of Pediatrics, Northeast Ohio Medical University, Rootstown, OH, USA; Director of The NeuroDevelopmental Science Center and Divison of Neurology, and Department of Pediatrics, Children's Hospital and Medical Center of Akron, Akron, OH, USARead Mitochondrial Case Studies on ScienceDirect