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Updated: May 19, 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
Hirschsprung disease in the older child: diagnostic strategies
Stefanie Maerzheuser1, Christian Bassir, Karin Rothe
1Department of Paediatric Surgery, Charité University Hospital, Berlin, Germany. stefanie.maerzheuser@charite.de
Insights
Hirschsprung disease in older children often presents with delayed diagnosis due to non-specific symptoms. Rectal biopsy is crucial for confirming this condition and guiding surgical intervention.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Clinical Diagnostics
Background:
- Hirschsprung disease (HSCR) is typically diagnosed in infants under one year old.
- However, diagnosis can be delayed in older children presenting with atypical symptoms.
Purpose of the Study:
- To investigate the clinical presentation and diagnostic challenges of Hirschsprung disease in children diagnosed after 14 months of age.
- To evaluate the effectiveness of diagnostic methods in this patient cohort.
Main Methods:
- Retrospective analysis of ten patients diagnosed with Hirschsprung disease after 14 months of age.
- Review of clinical signs, symptoms, diagnostic imaging (contrast enema), and histopathological findings (rectal biopsy).
Main Results:
- Six out of ten patients (60%) had a history of recurrent gastrointestinal issues, including vomiting and hospitalizations.
- Contrast enema results were non-specific in six patients, leading to diagnostic delays.
- Rectal biopsy was definitive in confirming Hirschsprung disease in all cases.
Conclusions:
- Contrast enema lacks specificity for diagnosing Hirschsprung disease in older children.
- Rectal biopsy is the gold standard for diagnosis and essential for surgical planning in Hirschsprung disease.
Background:
Hirschsprung disease is usually diagnosed in patients who are younger than 1 year; but in some individuals it is found later in childhood.
Objective:
This retrospective study is focused on clinical signs and symptoms of Hirschsprung disease in older children.
Materials And Methods:
Patients with Hirschsprung disease were included in the study if they were older than 14 months at the time of diagnosis.
Results:
Ten patients older than 14 months were diagnosed with Hirschsprung disease; 7 were males and 3 females. In all, 60% had a positive history of recurrent gastrointestinal infection with vomiting and hospitalization. In 6 patients, the final diagnosis was delayed because of unspecific findings in contrast enema. Rectal biopsy confirmed the diagnosis in all patients.
Conclusion:
Contrast enema is not a specific method for diagnosing Hirschsprung disease. Rectal biopsy alone confirms the diagnosis and provides a clear indication for surgery.
