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Updated: Apr 13, 2026
Immunostaining to Visualize Murine Enteric Nervous System Development
Published on: April 29, 2015
[A neonate with aganglionosis of the entire colon]
Nicole J Goossens1, Claudia M G Keyzer-Dekker, Robertine van Baren
1Universitair Medisch Centrum Groningen, afd. Kinderchirurgie, Groningen.
Insights
Hirschsprung's disease (HD) affects 1 in 5,000 children. Persistent bowel passage issues after delayed meconium indicate HD, requiring prompt diagnosis to prevent severe complications.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Neonatal Care
Background:
- Hirschsprung's disease (HD) impacts 1 in 5,000 neonates.
- Total colonic aganglionosis, an extended form of HD, occurs in 2-13% of cases.
- Early diagnosis of HD is crucial for effective management.
Observation:
- A 12-day-old neonate presented with late-onset abdominal obstruction and sepsis.
- Surgical intervention revealed total colonic aganglionosis.
- Clinical presentation and radiological findings were atypical for HD.
Findings:
- Delayed meconium passage followed by persistent bowel obstruction are critical indicators.
- Total colonic aganglionosis can present with non-specific symptoms.
- Unexpected findings highlight the importance of considering HD in neonates with bowel issues.
Implications:
- Prompt diagnostic evaluation for Hirschsprung's disease is essential in neonates with persistent passage problems.
- Early identification and treatment can prevent acute presentations and severe outcomes.
- This case underscores the need for vigilance in diagnosing HD, even with atypical symptoms.
Background:
1 in every 5,000 children is born with Hirschsprung's disease (HD). Total colonic aganglionosis is an extended form of HD and is present in 2-13% of all patients with the disease.
Case Description:
Paediatricians from a general hospital referred a 12-day-old male neonate on account of suspected abdominal obstruction and sepsis. An ileostomy was created and biopsies were taken during a laparotomy. Examination of the biopsies indicated total colonic aganglionosis. This diagnosis was unexpected because the symptoms of obstruction had occurred late and the radiological findings were not characteristic of Hirschsprung's disease.
Conclusion:
Persistent passage problems after delayed meconium passage are important alarm symptoms of Hirschsprung's disease. This diagnosis must be considered and ruled out in these patients in order to avoid an acute presentation of this disease.
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