Part IV: Metabolic and Heredodegenerative Disorders from Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition

Chapter 9 – Metabolic Diseases by Linda De Meirleir

• Disorders of Subcellular Organelles
  • Lysosomal Diseases
  • Congenital Disorders of Glycosylation
  • Peroxisomal Disorders
• Disorders of Amino Acid and Organic Acid Metabolism
• Disorders of Vitamin Metabolism
• Disorders of Neurotransmitter Metabolism
  • Biopterin and Catecholamine Metabolism
  • Inborn Errors of Gamma-Aminobutyric Acid Metabolism
  • Nonketotic Hyperglycinaemia
  • Serine Deficiency Syndromes
  • Other GABA-Related Disorders
• Urea Cycle Disorders
• Disorders of Carbohydrate and Glycogen Storage Diseases
  • Glycogen Storage Diseases
  • Transporter Defects
• Mitochondrial Medicine
  • Respiratory Chain Disorders
  • Pyruvate Dehydrogenase Deficiency
  • Pyruvate Carboxylase Deficiency
  • Defects in Krebs Cycle
  • Mitochondrial Fatty Acid Beta-Oxidation Defects
• Defects of Cholesterol Metabolism
• Disorders of Copper Metabolism
• Disorders of Purine and Pyrimidine Metabolism
  • Purines
  • Disorders of Pyrimidine Degradation
• Disorders of Creatine Synthesis and Transport
• Cerebrotendinous Xanthomatosis
• Hypotonia–Cystinuria Syndrome

Chapter 10 – Heredodegenerative Disorders by Victoria San Antonio Arce, Jaume Campistol Plana, Alexis Arzimanoglou and Robert Ouvrier

• Leukodystrophies
  • Demyelinating/Dysmyelinating Leukodystrophies
  • Hypomyelinating Leukodystrophies
  • Nucleotide Excision–DNA Repair Syndromes
• Heredodegenerative Diseases with Diffuse CNS Involvement
• Disorders Involving Predominantly the Grey Matter
  • Poliodystrophies
  • The Ceroid Lipofuscinoses
• The Spinocerebellar Degenerations, Ataxias, Hereditary Spastic Paraplegias and Related Conditions
  • Autosomal Dominant Forms of Spinocerebellar Ataxias
  • Autosomal Recessive Forms of Spinocerebellar Ataxias
  • Differential Diagnosis and Management of Friedreich Ataxia and Other Inherited Ataxias
  • Hereditary Spastic Paraplegia
  • Cerebellar Hypoplasia
  • Non-Progressive Cerebellar Ataxias
  • Pontocerebellar Hypoplasia

About the Complete Book

The Premier Reference Book on Clinical Child Neurology.

Congenital or early-onset disorders of the nervous system have a profound and lifelong impact on the lives of children and their families. Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence.

Movement disorders, epilepsies and seizure disorders, metabolic diseases, auditory and visual disorders, and genetic anomalies are among the many topics covered in this text. Extensive reference lists at the end of each chapter guide the clinician to further relevant reading.

This fourth edition retains the patient-focussed, clinical approach of its predecessors. The international team of editors and contributors has honoured the request of the late Jean Aicardi, that his book remain ‘resolutely clinical’, which distinguishes Aicardi’s Diseases of the Nervous System in Childhood from other texts in the field. For further information about the history of this title and previous editions, please see Further Materials.

This edition:

• Is completely revised and updated

• Includes latest developments in genetic advances

• Contains new chapters on basal ganglia diseases and psychogenic disorders

• Has an easy-to-use one volume format with full-colour illustrations

Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition remains the classic, user-friendly resource for busy clinicians in paediatric neurology, child neurology, general paediatrics, neurodisability, and all related medical disciplines.

Clinics in Developmental Medicine

• Complete Book
• Jean Aicardi (1926–2015)
• Jean Aicardi: A Brief Curriculum Vitae
• About the Editors
• Authors’ Appointments
• Preface to Third Edition
• Preface to Fourth Edition
• Acknowledgements
• Part 1 Fetal and Neonatal Neurology
• 1. Fetal Neurology
• Adré J Du Plessis and Michael V Johnston
• 2. Neurological Diseases in the Perinatal Period
• Miriam Martinez-Biarge and Linda S de Vries
• Part 2 Brain Malformations, Neurocutaneous Syndromes, Genetic Anomalies and Dysmorphic Syndromes
• 3. Developmental Brain Malformations
• Nadia Bahi-Buisson and Nathalie Boddaert
• 4. Neurocutaneous Diseases and Syndromes
• Eleni Panagiotakaki and Alexis Arzimanoglou
• 5. Genetic Anomalies and Dysmorphic Syndromes
• Karine Pelc and Bernard Dan
• Part 3 Neurological Consequences of Prenatal, Perinatal and Early Postnatal Interference with Brain Development
• 6. Osseous Malformations of the Skull and Craniovertebral Junction
• Richard Hayward and Dominic Thompson
• 7. Hydrocephalus and Non-Traumatic Pericerebral Collections
• Andrew Whitelaw and Christian Sainte-Rose
• 8. Cerebral Palsy and Related Movement Disorders
• Ingeborg Krägeloh-Mann
• Part 4 Metabolic and Heredodegenerative Disorders
• 9. Metabolic Diseases
• Linda De Meirleir
• 10. Heredodegenerative Disorders
• Victoria San Antonio Arce, Jaume Campistol Plana, Alexis Arzimanoglou and Robert Ouvrier
• Part 5 Postnatal Extrinsic Insults
• 11. Infectious Diseases
• Michael Eyre, Alasdair Bamford and Cheryl Hemingway
• 12. Parainfectious and Other Inflammatory Disorders of Immunological Origin
• Marc Tardieu and Michael Johnston
• 13. Accidental and Non-Accidental Injuries by Physical and Toxic Agents
• Karen Barlow, Robert Forsyth and Robert Minns
• Part 6 Tumours and Vascular Disorders
• 14. Tumours of the Central Nervous System, Other Space-Occupying Lesions and Pseudotumour Cerebri
• Colin Kennedy, Aabir Chakraborty and David Walker
• 15. Cerebrovascular Disorders
• Gabrielle deVeber and Adam Kirton
• Part 7 Paroxysmal Disorders
• 16. Epilepsy and Other Seizure Disorders
• Alexis Arzimanoglou and Michael S Duchowny
• 17. Headache Disorders in Children
• Kenneth J Mack
• 18. Sleep Disorders
• Patricia Franco
• Part 8 Movement Disorders
• 19. Basal Ganglia Diseases and Movement Disorders
• Paddy Grattan-Smith, Russell C Dale and Emilio Fernandez-Alvarez
• 20. Tics and Gilles de la Tourette Syndrome
• Robert Ouvrier and Russell C Dale
• 21. Non-Epileptic Paroxysmal Movement Disorders
• Paddy Grattan-Smith, Russell C Dale, Emilio Fernández-Alvarez
• Part 9 Disorders of the Oculomotor, Visual, Auditory and Vestibular Systems
• 22. Disorders of Visual and Oculomotor Functions
• Carey Matsuba
• 23. Disorders of Auditory and Vestibular Function
• Anne O’Hare
• Part 10 Neuromuscular Diseases
• 24. Diseases of the Motor Neuron
• Mariacristina Scoto and Francesco Muntoni
• 25. Disorders of the Peripheral Nerves
• Manoj Menezes and Robert Ouvrier
• 26. Muscle Disorders
• Monique M Ryan, Francesco Muntoni and Kathryn N North
• Part 11 Neurological Manifestations of Systemic Diseases
• 27. Electrolyte and Acid-Base Metabolism Disturbances, Nutritional Disorders and Other Systemic Diseases
• Peter Baxter
• Part 12 Developmental and Neuropsychiatric Disorders of Childhood
• 28. Neurodevelopmental Disabilities and their Management
• Bruce K Shapiro
• 29. Autism Spectrum Disorder and Autistic-Like Conditions
• Anne O’Hare and Roberto Tuchman
• 30. Attention-Deficit–Hyperactivity Disorder and Co-existing Impairments
• Bruce K Shapiro
• 31. Disorders of Speech, Language and Communication
• Anne O’Hare
• 32. Psychogenic Neurological Disorders
• Paddy Grattan-Smith
• Index

A Brief History of Aicardi's Diseases of the Nervous System in Childhood (PDF)

More Information and Sample Material from the Fourth Edition (PDF)

Detailed Table of Contents (PDF)

‘Aicardi's Diseases of the Nervous System in Childhood established itself in its previous editions as the pre‐eminent textbook for a non‐American readership, and I would go as far as to say that the current edition should now be required reading for the worldwide paediatric neurology community. It has been structured and written by leading authorities in their specific disciplines, thereby creating a complete picture of the clinical and pathological areas that concern us as child neurologists, setting out what has been known for many years, but also what has been established more recently. I believe that it has a major role to play in helping neurologists, new and old, make sense of a complex, fascinating, and constantly changing field. I believe that each paediatric neurology department should have this book in its library.’ Neil Thomas, Developmental Medicine & Child Neurology, 2019

‘This book is a combined effort of 47 leading pediatric neurologists from all over the world. It covers systematically the whole range of pediatric neurological disorders. Each chapter is written by authors who have made substantial contribution to the topic. This updated version is definitely a gem of a book and should be on the shelves of libraries of departments of pediatrics, neurology and clinical genetics. We are convinced that this book will be readily adopted by most students and pediatricians and that it is here to stay.’ Veronica Arora & Ishwar Verma, The Indian Journal of Pediatrics, 2019

'The [chapters] are comprehensive. The print of illustrations (many in full color) is of good quality. The cost performance ratio is very favorable. Undoubtedly, the editors and authors have succeeded (as intended in the preface) in providing a reference book for practicing child neurologists...' Eugen Boltshasuer, Neuropediatrics, 2019

'Jean Aicardi is a name synonymous with modern child neurology. Single-handedly, he wrote the first edition of the book, which bears his name and was published in 1995. The fourth edition, 23 years later, is edited by 4 eminent child neurologists and written by 47 authors. Recent advancement in areas of neuroimaging, molecular biology and molecular genetics have unravelled many of the mysteries that challenged paediatric neurologists over the years leading to a better understanding of many disease processes, but also bringing with them new challenges and higher expectations... Aicardi’s Diseases of the Nervous System in Childhood is a valuable resource and a reference book to practicing child neurologists, trainees and all physicians looking after children in acute hospital setting, in office practice or managing children with chronic neurodisabilities. It will, undoubtedly, make its way to the desks, computers and laptops of many paediatric neurologists.' I. Abu‐Arafeh, Epileptic Disorders, 2018

'This book is not only well organized and well written, it lives up to its goal of being practical and comprehensive. It is an important resource for anyone interested in child neurology. The fact that the senior authors are from France, the U.S., Scotland, and Australia and the contributors encompass a wide range of experts from all over the world provides an international perspective. This is definitely a reference that will be used on a regular basis.' Lawrence Brown, MD, The Children's Hospital of Philadelphia, 2018

Reviews of previous edition: 'In summary this textbook certainly is a great addition of neurologic knowledge for the developmental-behavioral pediatrician, be it for training or for clinical work. The text is very readable and offers a broad range of information with a vast bibliography. I can recommend it especially as a resource for training programs in developmental-behavioral pediatrics and for the neurologically interested clinician in general.' Dr. Olaf Kraus de Camargo, Journal of Developmental Pediatrics, 2011

'The book is enormous and contains almost 1000 pages. It is split into 11 different sections, with several chapters in each. Information is easy to find. There are many useful tables, diagrams, photographs, radiology images and even some colour images of fundi.' Rachel Kneen, Advances in Clinical Neuroscience and Rehabilitation, 2010

'This third edition of this classic text is a must for the bookshelves of all child neurologists, neurodevelopmental pediatricians, and behavioral paediatricians, as well as adult neurologists and pediatricians who have an interest in the neurologic problems of children. It covers new information exceedingly well, and effectively replaces the second edition.' Marvin A. Fishman, Pediatric Neurology, 2009

'This text deserves a place in the library of every child neurology training program, and will be useful to many practicing child neurologists as well.' Wendy G. Mitchell, Neurology, 2009

'This book is one of the best of its kind and, as with the first edition, will continue to take first place on the shelf of all paediatric neurologists. It is also highly readable, and will remain the "friendly companion at the bedside" that Professor Aicardi aims for.' Journal of Neurology

'This text is an excellent investment for any paediatric department as a bench book: trainees will rely on it for postgraduate examinations and many physicians in general and neurological practice of children and adults will covet the copy that is now at my right hand.' Journal of the Royal Society of Medicine

'This continues to set a high standard for other pediatric neurology textbooks to emulate. Clinicians will find this book useful in clinical practice and for the education of residents and medical students. While there are more detailed books about various specialty areas in child neurology, this one succeeds as a comprehensive, single-volume general pediatric neurology reference. Over the last decade, significant changes have occurred in our understanding of neurologic disease and its treatment. This is reflected in this edition and should encourage those who have found this book useful to update to the newer edition.' Kevin Chapman, MD, Barrow Neurological Institute

'The author's purpose was to write a practical clinical textbook for clinicians and he is faithful to his goal. In sum, I feel that the author has set out clear objectives and has met them well, sharing his great breadth and depth of knowledge and logical thought patterns with us in writing and communicating them well. I recommend this book to general pediatricians as well as to neurologists.' Harvey Sarnat, MD, FRCPC, University of Washington School of Medicine

• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Chapter 6: Osseous Malformations of the Skull and Craniovertebral Junction (free ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part III: Neurological Consequences of Prenatal, Perinatal and Early Postnatal Interference with Brain Development (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part II: Brain Malformations, Neurocutaneous Syndromes, Genetic Anomalies and Dysmorphic Syndromes (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part I: Fetal and Neonatal Neurology (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part IV: Metabolic and Heredodegenerative Disorders (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part V: Postnatal Extrinsic Insults (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part VI: Tumours and Vascular Disorders (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part VII: Paroxysmal Disorders (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part VIII: Movement Disorders (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part IX: Disorders of the Oculomotor, Visual, Auditory and Vestibular Systems (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part X: Neuromuscular Diseases (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part XI: Neurological Manifestations of Systemic Diseases (ebook)
• Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition - Part XII: Developmental and Neuropsychiatric Disorders of Childhood (ebook)