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Total colonic aganglionosis. Analysis of 16 cases
Insights
Hirschsprung's disease involving the entire colon (total colonic aganglionosis) affects 14% of infants. Early diagnosis via rectal biopsy is crucial to prevent delayed treatment and improve outcomes in this severe form of Hirschsprung's disease.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- Total colonic aganglionosis (TCA) is a rare and severe form, posing diagnostic and therapeutic challenges.
- Delayed diagnosis in TCA can lead to significant morbidity and mortality in affected infants.
Purpose of the Study:
- To evaluate the incidence, diagnosis, management, and outcomes of infants with total colonic aganglionosis.
- To highlight the importance of early recognition and appropriate surgical intervention for TCA.
- To assess the efficacy of different surgical procedures in managing extensive aganglionosis.
Main Methods:
- Retrospective review of 116 infants diagnosed with Hirschsprung's disease.
- Identification of patients with total colonic aganglionosis (16 infants).
- Analysis of diagnostic methods (rectal biopsy, intestinal biopsies), surgical treatments (diverting enterostomy, ileoanal pull-through, modified Duhamel), and patient outcomes.
Main Results:
- Sixteen of 116 infants (14%) presented with total colonic aganglionosis.
- Six patients experienced treatment delays due to unrecognized TCA, contributing to mortality.
- Ileoanal pull-through operations in nine patients showed no operative mortality; survivors exhibited normal growth and satisfactory bowel function.
Conclusions:
- Hirschsprung's disease with total colonic aganglionosis requires high clinical suspicion, especially in infants with persistent abdominal distention and constipation.
- Prompt rectal biopsy is essential for diagnosis; extensive aganglionosis can be confirmed intraoperatively.
- The modified Duhamel operation and enteroplasty may be valuable adjuncts for managing extensive cases of total colonic aganglionosis.
Abstract:
Sixteen of 116 infants (14 percent) with Hirschsprung's disease had total colonic aganglionosis. Treatment was delayed in 6 of 16 patients because the condition was not recognized. Diagnosis was eventually achieved by rectal biopsy and the extent of aganglionosis was documented after multiple intestinal biopsies. All patients were initially managed by diverting enterostomy. Ileoanal pull-through operation was performed in nine patients at 12 to 24 months of age with no operative mortality. The overall mortality rate was 25 percent, including the deaths of two infants with diagnostic delay. Survivors had normal growth and satisfactory bowel function, Hirschsprung's disease should be suspected and rectal biopsy performed in infants with persistent or intermittent abdominal distention and constipation. Instances of total colonic aganglionosis can be documented by appropriate biopsies at the time of laparotomy. The modified Duhamel operation is an acceptable procedure for this condition. A ganglionic antimesenteric patch enteroplasty may prove a useful adjunct in infants with extensive aganglionosis involving the proximal small bowel.