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What are the key clinical features to consider when diagnosing Hirschsprung's disease in infants?
Answer
Guideline-Aligned (High Confidence)
Generated by iatroX. Developer: Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner).
Last reviewed: 22 August 2025
Key clinical features to consider when diagnosing Hirschsprung's disease in infants include:
- Delayed passage of meconium beyond 48 hours after birth, which is a hallmark early sign raising suspicion for Hirschsprung's disease 1.
- Chronic constipation or failure to pass stools, often accompanied by abdominal distension and vomiting, indicating bowel obstruction 1.
- Palpable abdominal distension and a tight, empty rectum on digital rectal examination, which may produce explosive release of stool and gas upon withdrawal, known as the "squirt sign" 1.
- Signs of enterocolitis such as fever, diarrhea, and lethargy, which can complicate the disease and require urgent attention (Gorbatyuk, 2022).
- Failure to thrive or poor weight gain due to chronic bowel dysfunction (Matsukuma et al., 2023).
- In some cases, a family history of Hirschsprung's disease or associated syndromes (e.g., Down syndrome) may be present, supporting the diagnosis 1.
These clinical features, combined with diagnostic investigations, guide the diagnosis of Hirschsprung's disease in infants 1.
Key References
- CG99 - Constipation in children and young people: diagnosis and management
- (Moore, 2015): Total colonic aganglionosis and Hirschsprung's disease: a review.
- (Gorbatyuk, 2022): CURRENT APPROACHES TO DIAGNOSIS AND TREATMENT OF HIRSCHSPRUNG DISEASE IN NEWBORNS AND INFANTS (LITERATURE REVIEW AND FIRST-HAND EXPERIENCE).
- (Matsukuma et al., 2023): Hirschsprung Disease for the Practicing Surgical Pathologist.
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