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[Total colonic form of Hirschsprung disease. Treatment and long-term follow-up in 16 cases]
Insights
Hirschsprung disease treatment in 16 children showed surgical technique did not impact long-term outcomes. Early management of neonatal obstruction may reduce enterocolitis incidence, favoring Duhamel
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- Total colon involvement is a severe form requiring complex surgical management.
- Genetic factors, such as RET proto-oncogene mutations, play a role in some cases.
Purpose of the Study:
- To review the outcomes of total colon Hirschsprung disease treated at a single institution.
- To evaluate the influence of different surgical techniques on long-term results.
- To identify factors affecting morbidity and mortality.
Main Methods:
- Retrospective analysis of 16 cases of total colon Hirschsprung disease treated between 1971 and 1994.
- Review of patient records, including diagnosis, treatment, surgical approach (Martin, Duhamel, Swenson), and follow-up data.
- Genetic analysis in a family with associated conditions.
Main Results:
- Six children died, four before achieving nutritional autonomy via total parenteral nutrition.
- Postoperative complications included diarrhea and occlusions in the early years; no cases of enterocolitis were observed.
- Eight of nine followed children achieved fecal continence, independent of surgical technique.
- One family exhibited a RET proto-oncogene mutation, with associated megacolon and multiple endocrine neoplasia.
Conclusions:
- Surgical technique did not significantly influence long-term outcomes in total colon Hirschsprung disease.
- Early management of neonatal obstruction appears to reduce the incidence of enterocolitis.
- Duhamel's technique was favored over Martin's due to ileostomy-related issues, and the timing of definitive surgery was not advanced.
Abstract:
From 1971 to 1994, 16 cases of total colon Hirschsprung's disease were treated at the University Hospital in Rennes. Diagnosis have been at 2 days to 3 months. Two children had a family history of Hirschsprung disease among which one associated megacolon and multiple endocrine neoplasia. This family had a mutation of the RET proto oncogene. Six children died before complete surgical cure, among whom 4 before total parenteral nutrition. Six were treated according to Lester Martin, 3 according to Duhamel, and 1 to Swenson. Diarrhea and occlusions happened during the first postoperative years. None had any enterocolitis. Eight of 9 followed children are continent. Technique had no influence on long term outcome. Early neonatal occlusion management seems to decrease enterocolitis's incidence. We abandoned Lester's technique and kept Duhamel's technique. The problems encountered during ileostomy period do not encourage us to forward the age of definitive surgery procedure.