Hirschsprung's Disease
Summary
Hirschsprung's disease is a congenital disorder caused by absence of enteric ganglia (aganglionosis) in the distal bowel due to failed migration of neural crest cells during fetal development. The aganglionic segment is tonically contracted, causing functional obstruction. It almost always involves the rectum (starting at the internal anal sphincter) and extends proximally for a variable distance. The classic presentation is delayed passage of meconium (>48 hours) and abdominal distension in a neonate. Diagnosis is confirmed by rectal suction biopsy showing absent ganglion cells. Hirschsprung's enterocolitis is a life-threatening complication. Definitive treatment is surgical resection of the aganglionic segment with pull-through anastomosis.
Key Facts
- Pathology: Absence of ganglion cells (Meissner's and Auerbach's plexuses)
- Cause: Failed neural crest cell migration
- Presentation: Delayed meconium (>48h), abdominal distension, bilious vomiting
- Diagnosis: Rectal suction biopsy (absent ganglion cells, hypertrophic nerves)
- Treatment: Surgical pull-through procedure (Soave, Duhamel, Swenson)
- Emergency: Hirschsprung's enterocolitis (sepsis, toxic megacolon)
Clinical Pearls
"No Meconium by 48 Hours = Think Hirschsprung's": 99% of term infants pass meconium within 48 hours. Delayed passage is the classic red flag.
"Aganglionic Segment is Always Distal": It always starts at the anus and extends proximally. Short segment (recto-sigmoid) is most common.
"Transition Zone on Contrast": Barium enema shows narrow aganglionic segment distally with dilated normal bowel proximally.
"Enterocolitis Can Kill": Hirschsprung's enterocolitis is a surgical emergency - presents with explosive diarrhoea, abdominal distension, fever, and can rapidly progress to septic shock.
Incidence
- 1 in 5000 live births
- M:F = 4:1
Demographics
- More common in males
- Associated with Down syndrome (5-15% of cases)
Extent of Aganglionosis
| Type | Frequency | Extent |
|---|---|---|
| Short segment | 75-80% | Recto-sigmoid |
| Long segment | 15-20% | Extends proximal to sigmoid |
| Total colonic | 5% | Entire colon |
| Total intestinal | Rare | Small and large bowel |
Associated Conditions
- Down syndrome (trisomy 21)
- Other neural crest disorders (MEN2, congenital central hypoventilation)
- Waardenburg syndrome
Normal Development
- Enteric ganglia derived from neural crest cells
- Migrate craniocaudally from foregut to anus (weeks 5-12)
- Form Meissner's (submucosal) and Auerbach's (myenteric) plexuses
Hirschsprung's Mechanism
- Failed neural crest migration arrests before reaching distal bowel
- Absent ganglia in affected segment
- Uncoordinated peristalsis → Sustained contraction
- Functional obstruction despite normal lumen
- Proximal bowel dilates (normal, ganglionic bowel)
Why Enterocolitis?
- Stasis → Bacterial overgrowth
- Mucosal damage → Translocation
- Can lead to perforation, sepsis
Neonatal (Most Common)
| Feature | Notes |
|---|---|
| Delayed meconium | >8 hours (most reliable sign) |
| Abdominal distension | Progressive |
| Bilious vomiting | Suggests obstruction |
| Failure to thrive | If undiagnosed |
| Explosive stool after PR | "Gush" of stool on rectal exam |
Older Children (Late Diagnosis)
Hirschsprung's Enterocolitis (HAEC)
| Feature | Notes |
|---|---|
| Explosive diarrhoea | Often bloody |
| Abdominal distension | Tense |
| Fever | Sepsis |
| Shock | Can be rapid |
| Toxic megacolon | X-ray: Dilated colon with air-fluid levels |
HAEC is a surgical emergency!
Inspection
- Abdominal distension
- Visible loops of bowel
Palpation
- Tympanitic abdomen
- May feel faecal masses
Rectal Examination
- Empty rectum
- Explosive stool on withdrawal of finger ("squirt sign")
- Tight anal sphincter
First-Line
| Test | Purpose |
|---|---|
| Abdominal X-ray | Bowel obstruction pattern; may show transition zone |
| Contrast enema | Shows narrowed aganglionic segment + dilated proximal (transition zone) |
Diagnostic Test
- Rectal Suction Biopsy: Gold standard
- Absent ganglion cells
- Hypertrophic nerve trunks
- Increased acetylcholinesterase staining
Additional
- Anorectal manometry (absent recto-anal inhibitory reflex)
- Full-thickness biopsy (if suction biopsy inconclusive)
Findings Summary
| Test | Finding |
|---|---|
| AXR | Dilated loops, absence of gas in rectum |
| Contrast enema | Transition zone, delayed evacuation at 24h |
| Rectal biopsy | No ganglion cells, hypertrophic nerves |
Initial Management
┌──────────────────────────────────────────────────────────┐
│ HIRSCHSPRUNG'S DISEASE MANAGEMENT │
├──────────────────────────────────────────────────────────┤
│ │
│ INITIAL (NEONATAL): │
│ • NBM, IV fluids │
│ • NG decompression │
│ • Rectal washouts (decompress colon) │
│ • Confirm diagnosis (suction biopsy) │
│ │
│ DEFINITIVE SURGERY: │
│ • Pull-through procedure │
│ • Options: │
│ - Soave (endo-rectal pull-through) │
│ - Duhamel (retro-rectal pull-through) │
│ - Swenson (full-thickness rectal resection) │
│ • Usually single-stage now; stoma if sick/premature │
│ │
│ HIRSCHSPRUNG'S ENTEROCOLITIS (EMERGENCY): │
│ • Aggressive rectal washouts │
│ • IV antibiotics (broad spectrum) │
│ • IV fluids / resuscitation │
│ • Emergency surgery if perforation/no response │
│ │
└──────────────────────────────────────────────────────────┘
Rectal Washouts
- Decompress dilated colon
- Bridge to definitive surgery
- Repeated daily or twice daily
Surgical Options
| Procedure | Description |
|---|---|
| Soave | Mucosectomy with muscular cuff; pull-through inside muscle sleeve |
| Duhamel | Retrorectal placement; stapled pouch |
| Swenson | Full-thickness resection to anus |
Pre-operative
- Hirschsprung's enterocolitis (HAEC)
- Perforation
- Sepsis
Post-operative
- Enterocolitis (can still occur)
- Constipation
- Faecal incontinence / soiling
- Stricture
- Recurrence (if ganglionic bowel not reached)
With Treatment
- Generally excellent with surgery
- Most children achieve faecal continence
- Long-term bowel function issues in some
Factors Affecting Outcome
| Good | Poor |
|---|---|
| Short segment disease | Total colonic aganglionosis |
| Early surgery | Late diagnosis |
| No Down syndrome | Associated syndromes |
Key Guidelines
- APSA Guidelines: Hirschsprung Disease
- NICE: Constipation in Children (referral criteria)
Key Evidence
Surgical Outcomes
- Pull-through procedures have similar long-term outcomes
- Single-stage surgery now preferred where possible
What is Hirschsprung's Disease?
Hirschsprung's disease is a condition babies are born with where part of the bowel doesn't have the normal nerve cells that make it work. This means that part of the bowel can't push poo along properly, causing a blockage.
How is it Diagnosed?
If your baby hasn't passed meconium (the first poo) within 48 hours, or has a swollen tummy and vomiting, doctors will do tests including an X-ray and a small biopsy from the bottom to check for missing nerve cells.
How is it Treated?
Surgery is needed to remove the part of bowel without nerve cells and join the normal bowel to the anus. Most babies do very well after surgery.
What to Watch For
Some children can get a serious infection called enterocolitis even after surgery. Signs include:
- Explosive diarrhoea
- Swollen tummy
- Fever
- Seeming very unwell
Seek urgent medical help if these occur.
Primary Guidelines
- Langer JC. Hirschsprung disease. Curr Opin Pediatr. 2013;25(3):368-374. PMID: 23657249
Key Studies
- Puri P, Rolle U. Variant Hirschsprung's disease. Semin Pediatr Surg. 2004;13(4):293-299. PMID: 15660322