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Updated: Sep 27, 2026
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Diagnosing Hirschsprung's disease: increasing the odds of a positive rectal biopsy result
Nicola A Lewis1, Marc A Levitt, Garret S Zallen
1Department of Pediatric Surgical Services, Children's Hospital of Buffalo, and the State University of New York at Buffalo, Buffalo, New York 14222, USA.
Insights
Key clinical features can help avoid rectal biopsies for Hirschsprung disease (HD). Delayed meconium, vomiting, and abdominal distension in infants can identify HD, reducing unnecessary invasive procedures.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Diagnostic Imaging
Background:
- Hirschsprung disease (HD) diagnosis in children with constipation typically requires rectal biopsies.
- Identifying non-invasive diagnostic markers is crucial for early and accurate diagnosis.
Purpose of the Study:
- To determine if clinical history, physical examination, and radiographic findings can reliably differentiate Hirschsprung disease (HD) from idiopathic constipation (IC).
- To establish criteria to avoid unnecessary rectal biopsies in children presenting with constipation.
Main Methods:
- Retrospective analysis of patients undergoing rectal biopsy from 1995-2001.
- Comparison of clinical features between 50 patients with HD and 50 patients with IC.
- Statistical analysis (Pearson Chi2 testing) of historical, physical, and radiographic data.
Main Results:
- Sixty percent of HD patients and 15% of IC patients had symptom onset in the first week of life.
- Delayed meconium passage, abdominal distension, vomiting, and transition zone on contrast enema were significantly more frequent in HD patients (P <.05).
- All HD patients exhibited at least one significant feature; 98% had one or more of the classic triad symptoms.
Conclusions:
- Clinical history (delayed meconium, vomiting, abdominal distension) and contrast enema findings can accurately identify Hirschsprung disease (HD).
- These features can exclude HD in approximately 36% of patients with idiopathic constipation, potentially avoiding rectal biopsies.
- A combination of key historical and radiological findings can effectively differentiate HD from IC, guiding the decision for rectal biopsy.
Background/Purpose:
Rectal biopsies are performed as a definitive means of diagnosing Hirschsprung's Disease (HD) in children presenting with constipation. The authors hypothesized that key features in the history, physical examination, and radiographic evaluation would allow us to avoid unnecessary rectal biopsies.
Methods:
A retrospective analysis was conducted on patients undergoing rectal biopsy between 1995 and 2001. Patients with HD were identified (n = 50), and a concurrent cohort of patients with idiopathic constipation (IC; n = 50) was selected. Pertinent features in patients with HD versus those with IC were cross tabulated using Pearson Chi2 testing (significance was P <.05).
Results:
Sixty percent of patients with HD and 15% of patients with IC experienced onset of symptoms in the first week of life. HD patients more frequently experienced delayed passage of meconium (P <.05), abdominal distension (P <.05), vomiting (P <.05), and transition zone on contrast enema (P <.05). All patients with HD had one or more of these significant features. In contrast, only 64% of patients with IC had one or more of these features. The classic triad of symptoms (ie, delayed passage of meconium, vomiting, and abdominal distension) was present in 18%, and one or more of these symptoms was present in 98% of HD patients. In contrast, only 60% of patients with IC had a history of delayed passage of meconium, vomiting, or abdominal distension.
Conclusions:
A history of delayed passage of meconium, abdominal distension, vomiting or the results of a contrast enema identified all patients with HD and excluded HD in approximately 36% of patients with idiopathic constipation. The authors have shown that key features in a patient's history, physical examination, and radiologic evaluation can differentiate between HD and IC. In a child presenting with constipation and none of the above features, it is not necessary to perform a rectal biopsy to exclude HD.
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