What is the diagnosis and treatment for a pediatric patient with suspected Hirschsprung's disease?

Hirschsprung Disease: Diagnosis and Treatment

Diagnosis

Hirschsprung disease (HSCR) should be suspected in any neonate with delayed passage of meconium beyond 24 hours, abdominal distension, and bilious vomiting, and diagnosis requires rectal biopsy demonstrating absence of ganglion cells in the myenteric and submucosal plexuses. 1

Clinical Presentation

• Neonatal period: Most patients present with first meconium passage delayed beyond 24 hours, progressive abdominal distension, and vomiting (often bilious) 1
• Older infants: May present with chronic constipation, failure to thrive, and enterocolitis 2, 1
• Red flag symptoms: Bilious emesis or repeated forceful vomiting should prompt immediate evaluation for intestinal obstruction 3

Diagnostic Workup

• Contrast enema: Initial imaging to visualize a transition zone between dilated proximal bowel and narrowed aganglionic distal segment 1
• Rectal biopsy: Definitive diagnosis requires demonstration of absent ganglion cells in the affected bowel segment 1
• Suction rectal biopsy: Can be performed at bedside without anesthesia for histopathologic confirmation 4

Associated Conditions to Screen For

Document any associated syndromes, particularly congenital central hypoventilation syndrome (CCHS), which occurs in 13-20% of patients with certain genetic mutations. 3, 5

• Trisomy 21 (Down syndrome) 1
• Mowat-Wilson syndrome 1
• Congenital central hypoventilation syndrome (CCHS): 87-100% of patients with non-polyalanine repeat mutations (NPARMs) have HSCR, compared to 13-20% with polyalanine repeat mutations (PARMs) 3
• Shah-Waardenburg syndrome 1
• Cartilage-hair hypoplasia 1

Treatment

Surgical resection of the aganglionic bowel segment with pull-through of normally innervated intestine to the anus is the definitive treatment for Hirschsprung disease. 4, 1

Surgical Approach

Primary endorectal pull-through (PERPT) is now the preferred surgical method for most patients with HSCR, avoiding the need for a temporary colostomy. 6

• Single-stage repair: PERPT can be performed in stable neonates and infants with short-segment disease 6
• Surgical techniques: Swenson, Soave, and Duhamel procedures are the main options, which may include laparoscopically assisted approaches 1
• Two-stage repair with temporary colostomy: Required in up to one-third of patients, specifically those with:
  • Long-segment or total colonic aganglionosis 6
  • Markedly dilated proximal colon from delayed diagnosis 6
  • Clinical instability or enterocolitis at presentation 6

Postoperative Management and Complications

Even after successful surgery, patients require long-term monitoring for persistent obstructive symptoms, enterocolitis, and fecal incontinence. 4, 1

Hirschsprung-Associated Enterocolitis (HAEC)

• Most serious complication: Can occur pre- or postoperatively with increased morbidity and mortality 2
• Clinical presentation: Fever, abdominal distension, explosive diarrhea (often bloody), and potential progression to septic shock 2, 7
• Emergency management: Any child with history of HSCR presenting with diarrhea and vomiting requires surgical consultation and possible admission, as seemingly benign viral illnesses can rapidly progress to life-threatening enterocolitis 7
• Treatment: Guided by severity, including rectal irrigations, antibiotics, and supportive care 2

Persistent Obstructive Symptoms

Systematic evaluation for postoperative symptoms includes examination under anesthesia, contrast studies, endoscopy, anorectal manometry, and colonic motility studies. 4

• Internal anal sphincter achalasia: Treat with botulinum toxin injections or anal myectomy 6
• Anatomic stricture or retained aganglionic segment: May require redo operation 4
• Motility disorders: Identified through colonic motility studies and managed with individualized medical therapy 6

Key Clinical Pitfalls

• Do not discharge patients with HSCR history presenting with gastroenteritis symptoms without surgical consultation, as enterocolitis can rapidly progress to shock 7
• Recognize that PERPT patients may have slightly higher risk of postoperative enterocolitis compared to two-stage repairs 6
• Screen for CCHS in all HSCR patients, particularly those with genetic mutations, as this affects respiratory management 3, 5