Diagnostic accuracy of barium enema versus full-thickness rectal biopsy in children with clinically suspected Hirschsprung's disease: A comparative cross-sectional study

Abstract

Background and aims: Hirschsprung's disease (HSD) remains a common cause of pediatric intestinal obstruction. Barium contrast enema (BE) is the primary imaging modality for the evaluation of clinically suspected cases. Here, we aimed to assess the diagnostic accuracy of BE in children with clinically suspected HSD when compared to a gold standard full-thickness rectal biopsy (FTRB).

Methods: We recruited and consecutively enrolled children with clinically suspected HSD at two tertiary teaching hospitals. Participants underwent BE imaging and two radiologists interpreted the findings independently. Participants further underwent FTRB by pediatric surgeons as the confirmatory test. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and receiver operating characteristics (ROC) with the area under the curve (AUC) were calculated on Stata version 14.2, taking FTRB as the standard.

Results: We enrolled 55 cases, of which 49 completed the evaluation and were included in the final analysis. The median age was 9.4 months (interquartile range: 2-24], with a male-to-female ratio of 4.4:1. The sensitivity, specificity, PPV, and NPV of BE were 0.95 (95% confidence interval [CI] [0.81-0.99]), 0.73 (95% CI [0.39-0.94]), 0.92 (95% CI [0.82-0.97]), and 0.80 (95% CI [0.50-0.94]), respectively. On AUC, the diagnostic accuracy of BE compared to the confirmatory FTRB was 0.84 (95% CI [0.69-0.98]). The diagnostic accuracy was higher in neonates (ROC: 1.00) when compared to infants (ROC: 0.83) or those above 1 year of age (ROC: 0.798). HSD-suggestive BE findings were associated with absence of ganglion cells on FTRB (χ ² = 23.301, p < 0.001). Inverted rectosigmoid ratio and transition zone were more sensitive in detecting HSD of 0.92 (95% CI [0.74-0.98]) and 0.81 (95% CI [0.63-0.92]), respectively.

Conclusion: BE is sufficiently accurate in the diagnosis of children with HSD, suggesting BE would likely be used to inform surgical management in settings where confirmatory biopsy is lacking. However, clinical judgment is warranted in interpreting negative BE findings.

Keywords: Ethiopia; Hirschsprung's disease; aganglionosis; barium enema; diagnostic accuracy; rectal biopsy.

Figure 1

Flow chart for the diagnosis of Hirschsprung's disease (HSD) in children with clinically suspicious presentations.

Figure 2

Receiver operating characteristics (ROC) curve analysis for test accuracy of suggestive barium contrast enema findings for the diagnosis of Hirschsprung's disease, taking full‐thickness rectal biopsy as a gold standard The area under the ROC curve was 0.84 (95% confidence interval [0.69–0.98]).

Figure 3

Receiver operating characteristic (ROC) curves of accuracy of barium contrast enema for a diagnosis of Hirschsprung's disease was determined for each age category: (1) up to 28 days, (2) 28 days–1 year, and (3) >1 year. The area under the ROC curve was higher in the first age group and comparable in the second and third age groups.

Figure 4

A 3‐month‐old female infant with delayed passage of meconium. Barium contrast enema shows a dilated proximal colon and collapsed distal bowel segment with a clear transition point.

Figure 5

Biopsy confirmed Hirschsprung's disease in a 2‐year‐old male child presenting with suggestive clinical findings. Control film shows peripherally dilated bowel loops, and barium contrast enema revealed the presence of a transition point and a reversed rectosigmoid ratio.

Figure 6

A 2‐year‐ and 6‐month‐old child was investigated with barium contrast enema for suspicious symptoms. He had a reversed rectosigmoid ration but was ganglionated on biopsy.

Figure 7

A biopsy confirmed Hirschsprung's disease in a 10‐year‐old female child. Barium contrast enema shows mucosal irregularity and contractions in addition to a reversed rectosigmoid ratio.