The Role of Ultrasound in the Diagnosis of Hirshsprung Disease in Infants

Abstract Background Hirschsprung disease (HD) is a relatively common cause of intestinal obstruction in newborn infants. It is characterized by the absence of ganglion cells in the distal bowel, which begins at the level of the internal anal sphincter and extends proximally for varying distances. The absence of ganglion cells has been attributed to the failure of migration of neural crest cells and for many years contrast enema was used for diagnosis and the pathognomonic finding of Hirschsprung disease is the transition zone between the normal and the aganglionic bowel. Objective To evaluate the accuracy of real time ultrasound in the diagnosis of Hirschsprung disease in infants in comparison to fluoroscopy and biopsy results. Main body of Abstract From September 2019 to February 2023 a diagnostic Ultrasound study was carried at pediatric radiology unit, Ain Shams university hospitals on infants with clinically suspecting Hirschsprung disease and the results compared to gastrografin enema using fluoroscopy while we were blinded with results, 30 patients met all inclusion and exclusion criteria were included in the study then the results were compared to the biopsy results. The study showed that there was no statistically significant difference between ultrasound and gastrografin enema in the diagnosis of Hirschsprung disease (p value = 1) with an overall kappa measure of agreement of 0.73, a sensitivity of ultrasound was 87.5%, the specificity was 85.7% and the accuracy of ultrasound was 86.7% and when ultrasound results were compared to biopsy results, the sensitivity was 97.8 %, the specificity was 50% and the accuracy was 88.9%. The results of gastrografin enema when compared to biopsy results were nearly the same as ultrasound results. Conclusion Ultrasound showed good performance in differentiating HD from other causes of chronic constipation and had excellent congruence with contrast enema. It may be an alternative screening method for HD after using it in a large group of patients with suspecting Hirschsprung disease.