Overview
Hirschsprung’s disease (HD) is a congenital disorder where nerve cells of the parasympathetic myenteric plexus (Auerbach’s plexus) in the distal colon and rectum are absent. This leads to an inability of these regions to contract leading to a functional bowel obstruction and constipation.
Epidemiology
- Affects 1 in 5,000 live births globally
- Male patients are around 4 times more likely to be affected than female patients
- Most cases are diagnosed by the age of 2
Associations
Presentation
Depending on how much of the colon and rectum are affected, HD can present with acute intestinal obstruction shortly after birth, or present more insidiously. Features include:
- Delayed passage of meconium (>48 hours)
- Abdominal distension
- Vomiting
- Constipation
- ‘Explosive’ passage of liquid and foul stools
- This may be spontaneous or induced (e.g. following a rectal examination)
Investigations
- Abdominal x-ray:
- To distinguish between obstruction/distention of the small bowel and colon, as this can be difficult to do in infants
- Rectal biopsy:
- Definitive test
- Shows an absence of ganglion cells
Differential Diagnoses
Cystic fibrosis (CF)
- Both can have meconium ileus
- CF is picked up on the newborn bloodspot test
- Respiratory symptoms and malabsorption (e.g. failure to thrive and steatorrhoea) are also present
Management
- Initial management: bowel irrigation and rectal washout
- Definitive management: surgical removal of the affected sections of the bowel
Complications
- Ischaemia, necrosis, and perforation (enterocolitis)
- This can occur proximal to the affected section and be life-threatening
- This requires IV antibiotics, fluids, and surgery
Prognosis
- Despite resection, up to 50% of patients may experience symptoms
- Most children acquire normal bowel habits, but some still may have ongoing continence problems
