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Hirschsprung's Disease and Allied Disorders,
  1. E R HOWARD

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Hirschsprung's Disease and Allied Disorders, 2nd Edn. Edited by AM Holschneider, P Puri (Pp 503; illustrated). The Netherlands: Harwood Academic Publishers, 2000. ISBN 90-5702-263-x.

Hirschsprung's disease, or congenital intestinal aganglionosis, was named after Harald Hirschsprung, a Danish paediatrician who gave the first description of the condition in 1886. At first the massive dilatation of the colon was believed to be caused by an abnormality within the dilated colon itself and the condition was therefore called “congenital megacolon”. Sir Frederick Treves (1898) performed the first curative operation. While operating on a six year old girl he noted that although there was massive dilatation of the proximal colon, the lower sigmoid colon and rectum were narrow. He performed an abdominoperineal resection of the distal colon and rectum with anastomosis of the proximal colon to the anal margin. The patient was known to survive at least until 67 years of age.

The true cause of the disease, which is a congenital absence of ganglion cells in the wall of a variable segment of rectum and colon, was not recognised until 1948. It is now appreciated that the abnormality involves the whole of the autonomic nerve supply to the affected bowel and that the RET proto-oncogene, which is expressed in various cell lines derived from the neural crest, is a major gene for the disease. This genetic abnormality has provided an explanation for the relationship of the disease to other genetic diseases such as multiple endocrine neoplasia and the Waardenburg syndrome. The successful surgical management of congenital aganglionosis now depends on an accurate resection of affected bowel which is aided by the use of histochemical methods for the intraoperative assessment of the myenteric plexus.

The many facets of this congenital abnormality, which has an incidence of approximately 1 in 5000 live births, have resulted in fascinating studies by physiologists, morphologists, and geneticists. These investigations have led to the recognition of a whole range of abnormalities in the innervation of the gut which include hypoganglionosis and hyperganglionosis as well as the classical aganglionosis.

The book reviewed here is the second edition of a text on Hirschsprung's disease first published by Holschneider in 1982. It starts with a brief historical overview, which includes a good description of Swenson's original pull through operation for the condition in 1948, a procedure designed to conserve the anal sphincter mechanism.

The editors have endeavoured to provide a wide range of current knowledge which they have presented in three main sections—physiology and pathophysiology (including molecular genetics); clinical aspects of the disease; and techniques and results of surgical treatment. Fifty experts in various fields have contributed to the very comprehensive text.

The first section is particularly noteworthy for the reviews of the development and functional anatomy of the enteric nervous system written by JHC Meyers and MD Gershon, respectively. These are nicely presented with excellent overviews of the basic science which is essential knowledge for anyone involved in research of these congenital conditions. The next two chapters focus on molecular genetics and the section concludes with discussions of normal colonic function and pathophysiology.

The second “clinical” section includes chapters on the typical presentation of a range of congenital diseases of the enteric nervous system as well as the radiological, functional, and histological methods of diagnosis. RA Brown and S Cywes have also provided a useful summary of the remarkable number of malformations which have been described in association with Hirschsprung's disease. This section could perhaps have been enhanced by inclusion of colour illustrations which would have increased the value of the examples of histochemical techniques.

The third “surgical” section begins with a comprehensive description of the six most commonly used surgical techniques in Hirschsprung's disease, and here the presentation could have been improved by a more consistent approach to the artwork. Further chapters discuss the reported complications of the various techniques and outline their management. I felt that a critical review of these operative techniques, perhaps with a meta-analysis of published data, would have been of interest and might have helped surgeons to decide whether there is a “best buy” among all of these procedures. Consistency in the reference lists, some of which are arranged alphabetically while others follow a strictly numerical system, would also have removed an irritation.

In summary, this book provides a wealth of data about Hirschsprung's disease and related abnormalities. Although there are a few weaknesses in the editing of the text and artwork I have no hesitation in recommending it as a very useful reference book for surgeons and gastroenterologists, both in their research work and clinical practice.

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