Hirschsprung Disease: Clinical Presentation, Diagnosis, and Management
Clinical Presentation
Newborns with delayed passage of first meconium beyond 24-48 hours of life, abdominal distension, and bilious vomiting should be immediately evaluated for Hirschsprung disease. 1
Key Presenting Features:
- Delayed meconium passage (>24-48 hours after birth) is the hallmark sign 1, 2
- Bilious vomiting indicating functional distal obstruction 3, 1
- Abdominal distension from proximal bowel dilatation 1, 2
- Chronic constipation in cases presenting beyond the neonatal period 2
Critical Pitfall:
Bilious vomiting in a newborn is a surgical emergency until proven otherwise—midgut volvulus must be excluded immediately before pursuing other diagnoses. 4 While Hirschsprung disease causes functional obstruction, malrotation with volvulus is immediately life-threatening and requires urgent surgical intervention. 3
Diagnostic Work-Up
Step 1: Initial Imaging
Plain abdominal radiographs should be obtained first to evaluate for bowel obstruction patterns and guide subsequent imaging. 1, 3 This helps differentiate proximal versus distal obstruction and identifies concerning patterns requiring immediate surgical consultation.
Step 2: Contrast Enema
Contrast enema is the primary screening tool with 80% sensitivity for detecting the transition zone between dilated proximal bowel and narrowed distal aganglionic segment. 1 However, this test has a 20% false-negative rate and should be considered a screening tool only, not definitive for excluding Hirschsprung disease. 1
Step 3: Definitive Diagnosis
Rectal biopsy is required for definitive diagnosis by demonstrating absence of ganglion cells in the myenteric and submucosal plexuses of the affected bowel segment. 4, 5, 2 This is the gold standard and must be performed to confirm the diagnosis before surgical intervention.
Immediate Management
Stabilization Protocol:
- NPO status (nothing by mouth) 1
- Intravenous fluid resuscitation to correct dehydration and electrolyte abnormalities 1
- Nasogastric tube decompression to relieve proximal bowel distension 1
- Immediate pediatric surgical consultation for any neonate with bilious vomiting 1
Associated Conditions and Screening
Screen all confirmed Hirschsprung disease patients for associated syndromes, particularly:
- Congenital central hypoventilation syndrome (CCHS) in patients with PHOX2B mutations 1, 6
- Trisomy 21 (Down syndrome) 2
- Mowat-Wilson syndrome 2
- Shah-Waardenburg syndrome 2
The American Academy of Pediatrics recommends documenting any associated syndromes as part of the diagnostic evaluation. 6
Definitive Treatment
Surgical resection of the aganglionic bowel segment with pull-through of normally innervated intestine to the anus is the definitive treatment. 5, 7, 2
Surgical Approaches:
Three primary procedures are available—Swenson, Soave, and Duhamel procedures—which may include laparoscopically assisted approaches. 2 The choice depends on the length of aganglionic segment and surgeon expertise.
Post-Operative Considerations:
Even after successful surgery, patients may experience long-term complications requiring systematic evaluation:
- Persistent obstructive symptoms 7, 2
- Hirschsprung-associated enterocolitis (HAEC), which can occur pre- or post-operatively and carries significant morbidity and mortality 5, 2
- Fecal incontinence or soiling 7, 2
Management of post-operative symptoms requires evaluation for anatomic, inflammatory, behavioral, or motility-related factors, potentially including examination under anesthesia, contrast studies, endoscopy, anal sphincter function testing, and colonic motility studies. 7