Barium enema with reference to rectal biopsy for the diagnosis and exclusion of Hirschsprung disease

Background: Hirschsprung disease is congenital disease caused by a lack of ganglion cells in the distal bowel wall which results in functional obstruction of the aganglionic segment due to failure of relaxation during peristalsis. Barium enema is the best imaging modality to diagnose Hirschsprung disease but the gold standard to confirm the diagnosis is biopsy.
Methods: A retrospective study to assess barium enema accuracy relative to rectal biopsy in diagnosing Hirschsprung disease was done at Tikur Anbessa Specialized Hospital and data were collected from August 1^st to 14^th 2010. Seventy one patients who had undergone both rectal biopsy and barium enema examination between January 2002 and December 2009 were studied. In this study patients’ record were reviewed and radiologic findings were compared with histopathology results. The results were analyzed using SPSS16.
Results: In our study the mean age at diagnosis was 19 months which is a late diagnosis compared to other studies. Hirschsprung disease was more common in males and recto sigmoid was the most common area of transition zone. Large number of patients had emergency operation and diagnosis was late. Total percent agreement of barium enema and biopsy to diagnose HD is 79.1% and Kappa agreement of 0.34. In children greater than 1 year old accuracy of barium enema was very high (91.1%).
Conclusion and recommendation: Sensitivity of barium enema is less in neonates. If barium enema has positive result intervention can be done safely, especially in children above 1year old. Biopsy is not always necessary for diagnosing Hirschsprung disease.