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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
Sonographic visualization of the rectoanal inhibitory reflex in children suspected of having Hirschsprung disease: a
Ann-Kristin Ornö1, Håkan Lövkvist, Karel Marsál
1Department of Obstetrics and Gynecology, Clinical Sciences Lund, Lund University, Sweden. ann-kristin.orno@med.lu.se
Insights
A new ultrasound method accurately detects the rectoanal inhibitory reflex (RAIR) in children, aiding Hirschsprung disease (HD) diagnosis. This noninvasive technique shows promise as an alternative to traditional anometry for evaluating constipation in children.
Area of Science:
- Pediatric Gastroenterology
- Diagnostic Imaging
- Colorectal Surgery
Background:
- Hirschsprung disease (HD) diagnosis in children with chronic constipation often involves contrast enema, followed by anometry and rectal biopsy if inconclusive.
- Current diagnostic methods can be invasive or inconclusive, necessitating alternative approaches.
Purpose of the Study:
- To evaluate a novel noninvasive real-time sonographic method for assessing the rectoanal inhibitory reflex (RAIR).
- To compare the diagnostic accuracy of sonographic RAIR assessment with traditional anometry in children suspected of having HD.
Main Methods:
- Transperineal sonography was used to visualize the rectum and anal canal in children.
- The RAIR was elicited by rectal water injection, with bowel activity recorded via video for analysis.
Main Results:
- Sonographic RAIR assessment demonstrated 100% negative predictive value in identifying children without HD.
- The sonographic method showed comparable results to anometry in detecting the RAIR, correlating with histological findings.
- In cases of suspected HD, the absence of RAIR via sonography or anometry indicated aganglionosis.
Conclusions:
- Transperineal sonographic examination of the RAIR is a viable, noninvasive alternative to anometry for diagnosing HD in children.
- This sonographic approach can aid in the diagnosis of HD, particularly in cases of chronic constipation where initial investigations are inconclusive.
Objective:
To date, for detection of the absence of peristalsis in children with chronic constipation and a suspicion of Hirschsprung disease (HD), children have been investigated with a contrast enema. If the radiographic investigation is inconclusive, anometry and a rectal biopsy are performed. A new noninvasive real-time sonographic method for examination of the rectoanal inhibitory reflex (RAIR) was compared with anometry.
Methods:
The rectum and anal canal of children were visualized transperineally on sonography. The RAIR was elicited by injecting water into the rectum, and the events in the bowel were recorded on video for offline analysis.
Results:
Injection of water initiated a peristaltic wave that moved the rectal contents into the proximal part of the anal canal in healthy children. Among 28 children with suspected HD, 3 showed aganglionosis in their biopsy samples. These 3 children lacked the RAIR according to both sonography and anometry. Both methods had a negative predictive value of 100%. In 17 children, the RAIR was present according to both sonography and anometry, and all of these children had normal histologic findings. In 8 children, sonography did not show the reflex despite normal histologic findings; in 2 of these, the quality of the investigation made the evaluation uncertain.
Conclusions:
This pilot study indicates that in children with chronic constipation, a transperineal sonographic examination of the RAIR is comparable to anometry and can facilitate the diagnose of HD.
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