Neurofibromatosis: Phenotype, Natural History and Pathogenesis

Neurofibromatosis: Phenotype, Natural History and Pathogenesis, 3rd Edition, edited by J. M. Friedman, MD, PhD, David H. Gutmann, MD, PhD, Mia MacCollin, MD, and Vincent M. Riccardi, MD. The Johns Hopkins University Press, Baltimore, MD, 1999.

Type of book: This title is a multiauthored third edition of a text that began as a monograph in the late 1980s. It is partially driven by the National Neurofibromatosis Foundation, though dictated chiefly by the experience of the senior authors. It is packaged as a ready reference for the two separate neurofibromatoses we now recognize, NF1 and NF2. New contributors, including neurologists, geneticists, pediatricians, and pathologists, have been added since the second edition. Disappointedly, ophthalmologists are not among them.

Scope of book: The book is an overview of NF1 and NF2, with historical backgrounds, clinical and pathologic features, some molecular biology, and associated tumor-related conditions. In truth, it is 80% NF1 and 20% NF2. It is a book that is directed to the patient, as well as to the caregiver, and so it will be of some interest to families of patients, social workers, and pediatricians.

Contents: The book is divided into an introductory section that speaks to the historical background of NF1 and NF2. The sections on NF1 include epidemiologic features, evaluation of the patient, clinical genetics, structure and function of the NF1 gene, tumors associated with NF1, cognitive anomalies of such patients, abnormalities of the central nervous system, tumors of the visual pathways, other malignancies, skeletal system involvement, and vascular and endothelial abnormalities. There are many black and white photographs, some schematic diagrams, and occasional tables of interest and relevance. The section on NF2 is remarkably short, compassing three chapters and perhaps 60 pages. This section addresses clinical aspects of NF2, associated tumors, and molecular biology thereof. The book is characterized by an appendix of resources for patients and their families, with e-mail addresses, telephone numbers, and some lay references.

Strengths: The text is a casual summary of two diseases, but it is not directed toward the neuro-ophthalmologic community. The strengths of the text are its helicopter perspective, up-to-date molecular biology, simple discussions of structure and function, the genetic basis of these diseases, and a useful bibliography accompanies each chapter.

Deficiencies: The chapter on tumors of the optic pathway is cursory and lacks much of the subtlety that the neuro-ophthalmic community is used to seeing-description of discs, fields, scans, and subtleties of clinical declarations. Many of the drawings are poorly reproduced and the bibliographies strikingly overlook the ophthalmology literature.

Recommended audience: This product is a book designed for those persons interested in the neurofibromatoses, yet not expert therein. It is a good reference for patients and family, social workers, pediatricians, and family practice doctors. It is not an encyclopedic reference text, nor will it be one that the neuro-ophthalmologic community refers to more than once.

Critical appraisal: The book is a simple package of NF1 and NF2, their differences and similarities. It is simply written, simply presented, and timely in its information. It contributes to a topic that has changed more in the last 10 years than the previous 100 years. It will be of interest to medical students and the ophthalmology and neurology resident, and it continues the tradition of the previous two editions.