Book Review

Neurology of Hereditary Metabolic Diseases of Children

N Engl J Med 2007; 356:1691-1692April 19, 2007

Article

Neurology of Hereditary Metabolic Diseases of Children
Third edition. By Gilles Lyon, Edwin H. Kolodny, and Gregory M. Pastores. 542 pp., illustrated. New York, McGraw-Hill, 2006. $165. ISBN: 978-0-07-144508-5

This latest edition of this book is an update of a very useful resource for pediatric neurologists, trainees in pediatric neurology or pediatric metabolic disease, and medical students. The book covers hereditary neurologic diseases in children more comprehensively than do standard pediatric or neurology textbooks, but it is not forbiddingly encyclopedic. The generally clear and uniform writing style and the judicious use of references enhance its value.

One of the book's great strengths is the presentation of clinical material (chapters 3 through 5) according to the age of the child. This arrangement results in some redundancies, but the value of using age as an organizing tool is evident in the ease with which the book can be used for differential diagnosis. For each of the chosen ages, useful tables compare diseases and the specific signs or symptoms presented by patients (e.g., dystonia, seizures, ophthalmoparesis), giving the reader an overview by age and clinical presentation. These summaries are complemented by thoughtfully chosen clinical examples. The descriptions of diseases have been updated by including the results of recent genetic and imaging tests. The discussions of the mitochondrial encephalopathies, Rett's syndrome, and pantothenate kinase–associated degeneration disease are good examples of the inclusion of recent findings. Chapter 6, “Distinction between Hereditary Metabolic Diseases and Other Diseases of the Child's Nervous System,” is important, but it may be confusing to some readers. Missing the distinction between static encephalopathies (e.g., cerebral palsy) and degenerative neurologic diseases (e.g., the early stage of metachromatic leukodystrophy) may be the most frequent mistake the experienced clinician makes in the diagnosis of children with complex encephalopathies. Important clinical observations are scattered throughout this chapter, but they would be more accessible if they were organized into short sections that followed each of the age-specific discussions of various disorders in chapters 3 through 5.

Photomicrograph Showing Gaucher's Cells in Bone Marrow.

The last three chapters may be windows into the future of research on hereditary metabolic encephalopathies and their treatment. Chapter 7, “Visceral and Other Tissue Abnormalities Associated with Hereditary Metabolic Encephalopathies,” tabulates the non-neurologic manifestations of this group of diseases. Knowledge of organ abnormalities is helpful in the diagnosis of these diseases, and because the tissues are more accessible than the brain, their pathology and pathophysiology are easier to study. The next chapter, which discusses laboratory tests, has changed dramatically since the publication of the first edition of this book more than 20 years ago. Advances in imaging techniques and molecular biology will further change our nosologic system for the developmental encephalopathies and will increase the spectrum of diseases that are placed in the category of hereditary metabolic encephalopathies and neuropathies. The final chapter of the book, “Treatment and Prevention of Neurometabolic Disorders,” will expand as new technologies improve our understanding of the pathogenesis of these diseases and our ability to treat them. The authors are brave to venture into these promises.

Overall, this edition of Neurology of Hereditary Metabolic Diseases of Children is an important and ambitious contribution to the literature of this complex field. It is organized for clinical use and will be helpful to both trainees and experienced clinicians.

David Holtzman, M.D., Ph.D.
Massachusetts General Hospital, Boston, MA 02114
dholtzman1@partners.org