Related Experiment Video
Updated: Aug 16, 2026
A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors
Published on: September 18, 2013
Difficulties in making the diagnosis of Hirschsprung disease in early infancy
Y Nofech-Mozes1, A Rachmel, T Schonfeld
1Department of Paediatrics A, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
Insights
Hirschsprung disease (HD) and its complication, HD-associated enterocolitis (HAE), can present atypically in infants. Early recognition of these unusual symptoms is crucial for timely diagnosis and preventing severe HAE outcomes.
Area of Science:
- Pediatric Gastroenterology
- Neonatal Surgery
- Clinical Pediatrics
Background:
- Hirschsprung disease (HD) is a congenital condition affecting the large intestine, potentially leading to Hirschsprung disease-associated enterocolitis (HAE).
- HAE is a serious complication with significant morbidity and mortality, necessitating prompt diagnosis and management.
- The incidence of HAE varies widely, reported between 0% and 16.2% in the literature.
Observation:
- This study focuses on atypical presentations of HD and HAE in neonates and infants.
- Three cases are presented where diagnostic delays occurred due to unusual symptoms.
- Key atypical features included failure to gain weight, decreased appetite, recurrent diarrhea and vomiting, and hypoalbuminemia.
Findings:
- Atypical presentations of HD and HAE can mimic other common infant conditions.
- Delayed diagnosis in these cases was linked to non-specific symptoms like poor weight gain and gastrointestinal upset.
- Hypoalbuminemia was noted as a significant, though less common, indicator in these atypical cases.
Implications:
- Primary care physicians must maintain a high index of suspicion for HD, even with unusual symptoms in neonates and infants.
- Recognizing less common HD presentations is vital to prevent life-threatening HAE complications.
- Prompt diagnosis and intervention for atypical HD cases can improve patient outcomes and reduce HAE-related risks.
Abstract:
This study highlights the less common presentations of Hirschsprung disease (HD) and HD-associated enterocolitis (HAE) in neonates and infants. We present three infants whose diagnosis was delayed because of atypical presenting features, especially with failure to gain weight, decreased appetite, episodes of diarrhoea and vomiting and hypoalbuminaemia. The reported incidence of HAE ranges from 0 to 16.2%. To avoid complications of life-threatening HAE, primary care physicians require a high index of suspicion of the more unusual presentations of HD in neonates and infants.
