Hirschsprung's disease: Progress in management and diagnostics

Each of the basic operative methods for Hirschsprung's disease (the rectosigmoidectomy developed by Swenson, the retrorectal transanal approach developed by Duhamel, and the endorectal procedure developed by Soave and modified by Denda and Boley) can give good results. A protective colostomy should be routine. If only an occasional case is prevented from progressing to incontinence or septicemia and death, then I think this outweighs the hazards of the colostomy. The 25‐year review of 84 of the first 87 Swenson‐type operations carried out at our hospital revealed that in adult life every patient is continent even though some had a degree of lack of control for a considerable time during childhood. A follow‐up of the group of Soave‐type operations from our clinic, followed between 10 and 17 years, also showed maintenance of normalcy. Our first Duhamel operations were carried out in 1958 and these patients also maintained control. From the technical point of view, the remaining problem is that of the infant with a segment extending significantly proximally into the small intestine. Kimura's operation may prove to be the answer, although the rarest condition of total intestinal aganglionosis seems likely to remain insuperable and is mainly of clinical importance because of evidence that it recurs frequently in the family. Bodian preferred to call this condition agenesis of the intramural plexuses since there was no evidence of increased nerve bundles found in congenital aganglionosis. Enterocolitis remains the main threat in management. The urgency of treatment needs wider recognition. Hirschsprung's disease should be diagnosable almost entirely in the neonatal period now that reliable and minimally disturbing rectal suction or punch biopsy is available. It must be accepted, however, that this diagnostic tool requires an expert and experienced pathologist and means, therefore, some centralization of the examination of the material even if not always of the baby itself. The finding of overt neuropathological conditions in the presence of ganglia makes it likely that more subtle variations also exist and their recognition might account for some poor results of operation which are not explained by technical errors. The difficult case, and in particular the child whose superficial biopsy is reported “ganglionic but not normal,” should be investigated by full‐thickness biopsy studied by such special techniques as histochemical and silver staining, electron microscopy, and perhaps hormonal immunofluorescent studies as indicated. Nevertheless, it appears that these conditions are not sufficiently common to justify the recommendation of full‐thickness biopsy under general anesthesia or the use of these elaborate studies as routine, whereas by the encouragement of early rectal suction biopsy diagnosis, the course of the vast proportion of children who have typical Hirschsprung's disease will be made simpler for the surgeon, the child, and the family.