How is Hirschsprung disease in newborns diagnosed and treated?

Hirschsprung Disease in Newborns: Diagnosis and Treatment

Immediate Clinical Recognition

Any newborn with delayed passage of meconium beyond 24-48 hours, abdominal distension, and bilious vomiting should be immediately evaluated for Hirschsprung disease and requires urgent pediatric surgical consultation. 1

Diagnostic Algorithm

Initial Stabilization and Imaging

• Place the infant NPO immediately, initiate intravenous fluid resuscitation to correct dehydration and electrolyte abnormalities, and insert a nasogastric tube for gastric decompression 1
• Obtain plain abdominal radiographs as the first-line imaging study, which typically demonstrate numerous dilated bowel loops with absence or paucity of distal gas, indicating distal bowel obstruction 2
• Look specifically for dilated bowel loops with air-fluid levels throughout the abdomen and marked reduction or absence of gas in the distal colon and rectum 2

Confirmatory Imaging

• Proceed to contrast enema following abnormal plain films to visualize the transition zone between the narrow aganglionic distal segment and dilated proximal colon 1, 2
• Understand that contrast enema has approximately 80% sensitivity for detecting the transition zone but carries a 20% false-negative rate, making it a screening tool only, not definitive for excluding Hirschsprung disease 1, 2

Definitive Diagnosis

• Rectal biopsy remains the gold standard for confirmation, demonstrating absence of ganglion cells in the myenteric and submucosal plexuses 2, 3
• Plain radiographs and contrast enema cannot definitively diagnose Hirschsprung disease—they identify that obstruction exists but cannot determine the specific etiology 2

Surgical Management

The definitive treatment is surgical removal of the aganglionic bowel segment with reconstruction of the intestinal tract by connecting normally innervated bowel to the anus while preserving sphincter function. 3

• Standard surgical techniques include Swenson, Duhamel, and Soave procedures, which may be performed with laparoscopic assistance 3
• The goal is complete resection of the aganglionic segment and pull-through of normal intestine into the anal opening 4

Critical Associated Conditions to Screen

• Screen all confirmed Hirschsprung disease patients for congenital central hypoventilation syndrome (CCHS), particularly those with PHOX2B mutations (PARM 20/26 and higher genotypes) 1, 5
• Hirschsprung disease occurs in 87-100% of patients with non-polyalanine repeat mutations (NPARMs) of PHOX2B, compared to 13-20% with polyalanine repeat mutations (PARMs) 6
• Document any associated syndromes including trisomy 21, Mowat-Wilson syndrome, Shah-Waardenburg syndrome, and cartilage-hair hypoplasia 5, 3

Common Pitfalls to Avoid

• Do not rely solely on contrast enema to exclude Hirschsprung disease—the 20% false-negative rate means rectal biopsy is mandatory when clinical suspicion remains high despite negative imaging 1, 2
• Do not delay surgical consultation for complete imaging workup—any neonate with bilious vomiting requires immediate pediatric surgical evaluation 1
• In cases where the aganglionic segment is ultrashort, symptoms may not become clinically evident until later in childhood, making diagnosis more challenging 7

Postoperative Considerations

Even after successful surgery, patients may experience persistent obstructive symptoms, enterocolitis, or fecal incontinence requiring systematic evaluation and multidisciplinary management 4, 8