Abstract
Background
Patients with Hirschsprung disease lack the normal rectoanal inhibitory reflex, which can be studied with anorectal manometry or US.
Objective
To see whether the rectoanal inhibitory reflex could be visualised with a modified contrast enema, thereby increasing the diagnostic accuracy of the contrast enema and reducing the number of rectal biopsies.
Materials and methods
Fifty-nine boys and 42 girls (median age, 12 months) with suspected Hirschsprung disease were examined with a modified contrast enema, supplemented with two injections of cold, water-soluble contrast medium, to induce the reflex. Two paediatric radiologists evaluated the anonymised examinations in consensus. The contrast enema findings were correlated with the results of rectal biopsy or clinical follow-up.
Results
Five boys and one girl (median age, 7.5 days) were diagnosed with Hirschsprung disease. The negative predictive value of the rectoanal inhibitory reflex was 100%. A contrast enema with signs of Hirschsprung disease in combination with an absent rectoanal inhibitory reflex had the specificity of 98% and sensitivity of 100% for Hirschsprung disease.
Conclusion
The modified contrast enema improves the radiological diagnosis of Hirschsprung disease. By demonstrating the rectoanal inhibitory reflex in children without Hirschsprung disease, we can reduce the proportion of unnecessary rectal biopsies.
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Normal contrast enema and normal rectoanal inhibitory reflex in a 1-month-old girl without Hirschsprung disease. When the cold contrast agent is injected, a dilatation of the rectum is seen. After 3–4 s, the first phase of the reflex is seen as an opening of the anal canal, which remains open until the closing begins after about 7–8 s from the start of the injection (the second phase of the reflex). Almost simultaneously, a retrograde transport of the contrast agent is seen to the sigmoid (the third phase of the reflex) (MPG 2866 kb)
Normal contrast enema and normal rectoanal inhibitory reflex in a 2-year-old girl without Hirschsprung disease. After 4–5 s, an opening of the anal canal is seen. After 18 s, the anal canal begins to close again and a retrograde transport of contrast medium is seen to the oral part of the rectum (MPG 2368 kb)
Abnormal rectosigmoid index <1, but the rectoanal inhibitory reflex is present, in a 1-month-old boy without Hirschsprung disease. Four seconds after the start of the injection, the anal canal begins to open and contrast agent is seen along the catheter in the anal canal. After 14 s, the anal canal begins to close again (MPG 1642 kb)
The rectosigmoid index is abnormal (<1) before the injection of the cold contrast agent in a 3-week-old boy without Hirschsprung disease. The child is moving during the examination, which makes it more difficult to evaluate, and the sequence documenting the injection is too short (only 14 s), but the reflex still can be seen. After 7–8 s, an opening of the anal canal is seen and after 11 s, it begins to close again (MPG 1174 kb)
The rectosigmoid index is abnormal (<1) before the injection of the cold contrast agent, in a 1-month-old girl without Hirschsprung disease. The rectoanal inhibitory reflex is present. The catheter tip is placed slightly too high (it should be in the central part of therectal ampulla). After 6 s, the anal canal begins to open. After 9–10 s, it closes again and retrograde transport of contrast agent is seen to the sigmoid (MPG 690 kb)
The rectosigmoid index is abnormal (<1) before the injection of the cold contrast agent and the rectum is contracted and irregular in a 2-week-old girl without Hirschsprung disease. The rectoanal inhibitory reflex is present. After 2 s, an opening of the anal canal is seen with subsequent emptying of contrast agent. After 6 s, the anal canal closes again. A second opening of the anal canal is seen after 8 s, and begins to close again after 11 s (MPG 840 kb)
A 1-month-old boy later diagnosed with Hirschsprung disease. The contrast enema is abnormal and the rectoanal inhibitory reflex is absent. When the cold contrast agent is injected, irregular contractions are seen in the rectum and an explosive emptying of the bowel is seen (MPG 1174 kb)
A 3-year-old boy later diagnosed with Hirschsprung disease. The contrast enema is abnormal and the rectoanal inhibitory reflex is absent. When the cold contrast agent is injected, a slight dilatation of the rectum is seen, but no opening of the anal canal (MPG 3000 kb)
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Vult von Steyern, K., Wingren, P., Wiklund, M. et al. Visualisation of the rectoanal inhibitory reflex with a modified contrast enema in children with suspected Hirschsprung disease. Pediatr Radiol 43, 950–957 (2013). https://doi.org/10.1007/s00247-013-2622-4
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DOI: https://doi.org/10.1007/s00247-013-2622-4