COMPENDIO DE MEDICINA DE URGENCIAS: GUIA TERAPEUTICA

OVERVIEW

The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children

Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy.

Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike.

New to the Third Edition:

•   Tables categorizing diseases by mechanisms
•   Treatment for disorders that previously had no known treatment options
•   Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease
•   Case examples with clinical pearls
•   Web sites and contact information for patient support groups

ABOUT THE AUTHORS

Gilles Lyon, MD is Adjunct Professor, Department of Neurology, New York University School of Medicine.

Edwin H. Kolodny, MD, is Vice-Chairman of the Executive Committee of the Medical Board of the Tisch Hospital and C-Chairman of the Executive Advisory Committee of the General Clinical Research Center.

Gregory M. Pastores, MD, Assistant Professor of Neurology and Pediatrics, Member of the New York University Neurology Associates and New York University Neurogenetics Lab.

TABLE OF CONTENTS

• 1. General Aspects of Hereditary Metabolic Diseases of the Nervous System
• 2. The Neurology of Neonatal Hereditary Metabolic Diseases
• 3. Early Infantile Progressive Metabolic Encephalopathies: Clinical Problems and Diagnostic Considerations
• 4. Late Infantile Progressive Genetic Encephalopathies:(Metabolic Encephalopathies of the Second Year of Life)
• 5. Childhood and Adolescent Hereditary Metabolic Disorders
• 6. Distinction Between Hereditary Metabolic Diseases and Other Diseases of the Child's Nervous System
• 7. Visceral and Other Tissue Abnormalities Associated with Hereditary Metabolic Encephalopathies
• 8. Laboratory Tests for the Diagnosis of Hereditary Metabolic Encephalopathies
• 9. Treatment and Prevention of Neurometabolic Disorders