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
Reference key information quickly and easily with a consistent, user-friendly format and at-a-glance boxes and tables throughout the text.
Recognize all the nuances of how pathological lesions present through over 800 full-color illustrations.
Practice with confidence and overcome your toughest challenges with advice from the top minds in neuropathology.Make optimal use of the latest approaches for diagnosing fat and air emboli, vascular diseases, trauma, congenital malformations, perinatal diseases and phacomatoses, demyelinating and dysmyelinating disorders, neurodegenerative diseases, infections, metabolic and toxic disorders, glial and non-glial tumors, skeletal muscle and peripheral nerve disorders, and more.
Prepare for the future of neuropathology with a new information dedicated to neurotransmitters as they relate to diseases such as Parkinson's and the development of new drugs for these disorders.
Apply the latest molecular diagnostic techniques to recognize tumor entities added to the most recent WHO classification of tumors of the central nervous system.
Access the fully searchable text online at www.expertconsult.com, along with a downloadable image bank, illustrations, boxes, tables, and more.
Organized into 14 chapters, this book begins with an overview of the process of neurological examination relevant to the neonate and the infant. This text then discusses the significance of obtaining a careful description of symptoms and the need to question the child as well as the parents. Other chapters consider the variety of disorders that are genetically determined. This book discusses as well the abnormalities at birth due to faults in the early growth and development of the body. The final chapter deals with the advances in the field of genetics that contribute to the management of neurological diseases.
This book is a valuable resource for pediatric neurologists, general pediatricians, and public health physicians.
The first two chapters cover the process and goals of the neuropathologic exam and histological reactions particular to the nervous system. Subsequent chapters review major disease categories, with each section containing an overview of pathologic and clinical characteristics in general, a description of the gross and histologic features along with their clinical features, and data on pathogenetic mechanisms. Filled with tables to clarify major points, case histories to provide clinical correlates, and Board-type chapter review questions with answers and explanations, this text will be a valuable addition to all individual and reference libraries.Key Benefits:
Almost 600 full color illustrations.
Case histories, keyed to images, provide clinical correlation with pathology.
Over 90 tables summarizing key points: useful for quick reference and exam preparation.
End-of-chapter Board-type questions, with answers and explanations, for self-assessment and exam preparation.
Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.
Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy