Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
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 NICE CG99.
- Chronic constipation or failure to pass stools, often accompanied by abdominal distension and vomiting, indicating bowel obstruction NICE CG99.
- 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" NICE CG99.
- 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 NICE CG99.
These clinical features, combined with diagnostic investigations, guide the diagnosis of Hirschsprung's disease in infants NICE CG99.
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.