Diagnostic Imaging in Hirschsprung Disease

Primary Radiographic Features

The American College of Radiology recommends plain abdominal radiographs as the first-line imaging study, which typically show numerous dilated bowel loops with an absence or paucity of distal gas, indicating a distal bowel obstruction pattern in newborns with Hirschsprung disease 1
Dilated bowel loops with air-fluid levels throughout the abdomen are a characteristic finding in Hirschsprung disease, as reported by the Journal of the American College of Radiology 2
The absence or marked reduction of gas in the distal colon and rectum is a key distinguishing feature of Hirschsprung disease, according to the Journal of the American College of Radiology 1

The American Academy of Pediatrics recommends contrast enema as the diagnostic imaging procedure of choice following abnormal plain films, as it can demonstrate the transition zone between the narrow aganglionic distal segment and the dilated proximal colon, with approximately 80% sensitivity for detecting the transition zone 4
Rectal biopsy remains the gold standard for confirmation of Hirschsprung disease, as stated by the American Academy of Pediatrics 4

Plain radiographs alone cannot definitively diagnose Hirschsprung disease and have significant limitations, including the inability to differentiate between causes of distal obstruction, as reported by the Journal of the American College of Radiology 1
Plain radiographs serve primarily as a screening tool to identify that obstruction exists, not to determine the specific etiology, according to the American College of Radiology 3