Hirschsprung Disease Diagnosis and Management

Clinical Presentation and Diagnostic Approach

The American Academy of Pediatrics recommends that newborns with delayed passage of first meconium beyond 24-48 hours of life, abdominal distension, and bilious vomiting should be evaluated for Hirschsprung disease, with a diagnostic approach that includes plain abdominal radiographs and contrast enema 1, 2
The diagnostic algorithm for Hirschsprung disease involves a step-wise approach, starting with plain abdominal radiographs to evaluate for bowel obstruction patterns, followed by contrast enema to demonstrate a transition zone between dilated proximal bowel and narrowed distal aganglionic segment, with a sensitivity of 80% for detecting a transition zone 1, 3
The American College of Radiology recommends that contrast enema should be considered a screening tool only, not definitive for excluding Hirschsprung disease, due to its limitations, including a 20% false-negative rate 1, 3

The American Academy of Pediatrics recommends that patients with suspected Hirschsprung disease should be placed on nil per os (NPO) status, receive intravenous fluid resuscitation to correct dehydration and electrolyte abnormalities, and undergo nasogastric tube decompression, with immediate pediatric surgical consultation for any neonate with bilious vomiting 1
The American Thoracic Society recommends that patients with confirmed Hirschsprung disease should be screened for associated syndromes, including congenital central hypoventilation syndrome (CCHS), which requires assessment for Hirschsprung disease in patients with PHOX2B mutations, particularly PARM 20/26 and higher 4