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Meconium ileus due to extensive intestinal aganglionosis
M D Stringer1, R J Brereton, D P Drake
1Department of Paediatric Surgery, Hospital for Sick Children, London, England.
Insights
Extensive intestinal aganglionosis can mimic meconium ileus in infants. Early rectal suction biopsy is crucial for accurate diagnosis, especially when cystic fibrosis is ruled out.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Genetics
Background:
- Meconium ileus is a common neonatal surgical emergency.
- Aganglionosis, or Hirschsprung's disease, typically affects the colon but can extend into the small bowel.
- Misdiagnosis of these conditions can lead to delayed or inappropriate treatment.
Purpose of the Study:
- To highlight the association between extensive intestinal aganglionosis and meconium ileus.
- To emphasize the diagnostic challenges and potential pitfalls in differentiating these conditions.
- To recommend diagnostic strategies for infants presenting with meconium ileus.
Main Methods:
- Retrospective review of seven full-term infants with aganglionosis extending into the small bowel.
- Analysis of clinical, radiological, and operative features.
- Evaluation of diagnostic methods, including rectal suction biopsy and appendiceal histology.
Main Results:
- All seven infants initially presented with features suggestive of meconium ileus.
- Rectal suction biopsy was key to establishing the correct diagnosis, though initially misleading in two cases.
- Cystic fibrosis was excluded in all patients.
- Two infants with delayed diagnosis and treatment died.
Conclusions:
- Extensive intestinal aganglionosis is a rare but critical differential diagnosis in infants with meconium ileus.
- Early and accurate diagnosis via rectal suction biopsy is vital.
- Histological examination of the appendix may aid in diagnosis and prevent misdiagnosis.
Abstract:
Seven full-term infants with aganglionosis extending into the small bowel presented with clinical, radiological, and operative features of meconium ileus. Misdiagnosis resulted in inappropriate treatment. The correct diagnosis was eventually established by rectal suction biopsy, mostly after either recurrent intestinal obstruction or stomal dysfunction, and after cystic fibrosis had been excluded. For two patients, the results of rectal suction biopsies were initially misleading. Two infants died. Extensive intestinal aganglionosis should be considered a rare possibility in all infants with meconium ileus. In such cases, histological examination of the appendix may avoid this potential pitfall.