Syndromes: Rapid Recognition and Perioperative Implications. Edited by Bruno Bissonette, M.D., Igor Luginbuehl, M.D., Bruno Marciniak, M.D., and Bernard Dalens, M.D. New York, McGraw-Hill Medical Publishing Division, 2006. Pages: 953. Price: $89.95.
Pediatric anesthesiologists have long recognized that children with classic groups of symptoms that characterize common eponymous syndromes, such as Down syndrome, often present for surgery with difficult airways for intubation and cardiac anomalies. Less frequently, they encounter a rare congenital syndrome, or some sporadic nonsyndromal disorder, that is complex in nature and presents challenging management problems. As neonatal survival from life-threatening conditions has improved, anesthesiologists now treat children with syndromes in day-care surgical settings and intensive care units. It would be a daunting task to remain knowledgeable about the many new syndromes that are being identified at an unprecedented rate after the completion of the Human Genome Project. So, there is a clear need for a readily available resource of information on syndromes to consult when dealing with these cases.
Bruno Bissonette and his coeditors have compiled an encyclopedic reference text to more than 2,000 syndromes that confound the perioperative management of pediatric patients. The main body of the text provides an alphabetical listing of these syndromes, with an easy cross-referencing system to synonyms, variations, and closely related conditions. Illustrations of many common or rare conditions allow a rapid diagnosis to be confirmed. Each entry is a well-organized description of the syndrome under 14 standardized headings. Typically, important clinical features for recognition of the syndrome are presented with a brief historic note about early descriptions. The incidence and prevalence in specific populations is estimated, and the likely pathophysiologic mechanisms underlying the medical condition are discussed. Diagnostic tests to aid in the differential diagnosis are listed, and attention is drawn to those organ systems that are most likely to be involved and need further investigation. Recommendations for preoperative management and anesthetic considerations follow logically from these considerations. The inclusion of current information about the genetic basis of the syndrome and updated references is valuable for those who want to pursue the topic further, either for interest or as an adjunct to family counseling in the perioperative period.
This book makes fascinating reading. Using closure of a cleft palate as an example of a routine surgical procedure, it describes an alarming range of possible associations with syndromes that may confront the unsuspecting anesthesiologist. Juberg-Hayward syndrome is a very rare inherited disorder that includes microcephaly with thumb and limb deformities. There are only 250 known cases of ectrodactyly, ectodermal dysplasia, and clefting (EEC) syndrome, but they are associated with difficult intubation, mental retardation, hearing loss, and renal dysplasia. McPherson-Clemens syndrome is an autosomal recessive disorder complicated by hypertelorism, bifid thumbs, malrotation of the intestine, and complex congenital heart defects. CCGE syndrome is a synonym for cleft palate, cardiac defect, genital anomalies, and ectrodactyly, an extremely rare inherited disorder for which anesthesia has not been described.
Rosseli-Gulienetti syndrome is another example of an autosomal recessive condition that manifests with ectodermal dysplasia, hand and foot deformities, and mental retardation. These are only five of the many syndromes with which cleft palate, an eminently correctable condition that will necessitate repeated anesthesia, may coexist.
When a syndrome has been diagnosed in infancy, there will be warning of potential problems and, often, a history of previous anesthetic experiences. The specter of unexplained cardiac arrest as the presenting feature of Duchenne muscular dystrophy in apparently healthy young boys is still real. However, after a diagnosis has been made, the concise, complete information presented here allows such cases to be approached with confidence. It explains that Duchenne muscular dystrophy affects 1:3,500 boys as a result of a spontaneous mutation or X-recessive inheritance in a gene mapped to the short arm of the X chromosome at position 21 (Xp21). The absence of dystrophin disrupts sarcolemma function and results in progressive muscular, respiratory, and cardiac disease. Recommendations for cardiorespiratory function tests preoperatively and avoidance of succinylcholine and halogenated inhalational agents, while remaining prepared for hyperkalemic cardiac arrest, are valuable cautionary reminders.
This is a wonderful book. Its publication is timely in filling a void that medical advances have created. As the number of older and newer syndromes identified becomes overwhelming for anesthesiologists, this resource will contribute to improvements in the perioperative care of children. However, it could be argued that a Web-based interactive platform, rather than the traditional hardback book format, would make the material even more useful, accessible, and easier to keep up-to-date. In the meantime, this book should be readily available to all pediatric anesthesiologists in the perioperative and intensive care environments.
University of Toronto, Toronto, Ontario, Canada. firstname.lastname@example.org