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


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