Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood, 2nd Edition.

Abstract

Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts. robert.holzman@childrens.harvard.eduAnesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood, 2nd Edition. By Victor C. Baum, M.D., and Jennifer E. O’Flaherty, M.D., M.P.H. Philadelphia, Lippincott, Williams & Wilkins, 2007. Pages: 415. Price: $149.00.In this second edition of Anesthesia for Genetic, Metabolic and Dysmorphic Syndromes of Childhood , Baum and O’Flaherty have once again made available to their anesthesiology colleagues worldwide a broad review of rare disorders, therefore preserving the essence of the first edition while refreshing previous phenotypic descriptions with an evolving genomically based approach. The authors, pediatricians as well as anesthesiologists, convey both specialties well, and the result is a smoothly written and stylistically consistent reference of increasing importance, as many of these patients with rare syndromes now survive longer than ever before.The authors’ foreword notes, pari passu , that this is an unindexed book, basically listing numerically and alphabetically the syndromes it covers. As justification they inveigle, quite reasonably, that the purpose of the book is not to enable anesthesiologists to make genetic diagnoses but rather, with the diagnosis recognized preoperatively, to adequately appreciate the syndromic implications to formulate anesthetic management based on existing clinical skills and judgment. This is just what any clinician would wish from a medical consultant!A glossary of typical Classic language-derived terms (cubitus varus , cutis marmorata , pes cavus , among others) is mercifully placed before the content. The consistency of the template approach is praiseworthy for ease of use and uniformity. The template is organized by system, with anesthetic considerations following. Each numbered or named syndrome is referenced by number to (McKusick’s) Mendelian Inheritance in Man, the bible of syndromic and dysmorphic disorders.1Like hidden treasures, there are often amusing historical pearls in the miscellaneous subsections. For example, under Leber Congenital Amaurosis: “Theodor Leber pronounced his name ‘Layber’ and was the founder of scientific ophthalmology. He had wanted to be a chemist, but was told by Professor Bunsen that there were already too many chemists, so he chose medicine as an alternative.” The Medieval legend of Ondine is related in the section on Ondine’s Curse. There are many such delightful and illuminating diversions embedded within the text. For those who deal with syndromic patients frequently at tertiary or quarternary care pediatric centers, this template organization subtly trains clinicians in a consistent approach to complicated, and sometimes intimidating, disorders. Illustrations are not overdone but are very helpful when shown. At the end of the Z’s, several pages of beloved intermediary metabolic pathways (steroid biosynthesis, tyrosine metabolism, the simplified urea cycle, metabolism of branched chain amino acids, glycogen metabolism, and the porphyrias) are illustrated, along with various pathway impairments resulting in disease states along the way.Cross-references are readily provided for syndromes with multiple names. Although the authors are unapologetic about the lack of an index, it may take a bit longer to navigate specifically to a disorder unless you know exactly what you are looking for; in most circumstances, practicing anesthesiologists will, because most of these patients already have a diagnosis by the time we see them. References are intriguingly listed in reverse chronological order rather than by appearance in the text of the section. This novel approach serves the curious reader well in culling additional, more recent information.Is this book too limited for the practicing anesthesiologist? This view is too myopic. Many patients who would never have survived beyond the first several months to years of life are surviving into adulthood. Many patients who would have been cognitively and/or physically impaired are now competent and independently functioning adults. They have unique as well as general health and surgical problems and, as with our successes in pediatric surgery and critical care, will visit us in the operating room for many years. For these reasons, this compendium of relatively rare disorders and their anesthetic implications, lucidly written, superbly organized and laden with sound advice and islands of history and delightful commentary about these disorders, should be readily available to all practitioners of anesthesia. Moreover, it holds substantial importance for all who may care for syndromic patients in an acute setting such as emergency medicine, interventional specialties such as cardiology or radiology, surgeons, and intensivists. Geneticists and dysmorphologists who are consultants to anesthesiologists will also be interested in this book for the mirror-image insight it will impart.Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts. robert.holzman@childrens.harvard.edu