What is Hirschsprung's Disease?
Hirschsprung's disease is a congenital condition affecting the large intestine (colon) where important nerve cells are missing. These cells, called ganglion cells, are responsible for controlling the normal movement of the bowel.
Key Features
- Usually present at birth
- Affects approximately 1 in 5,000 newborns
- More common in males than females
- Can be associated with other genetic conditions
Common Symptoms
In Newborns:
- Failure to pass meconium within 48 hours of birth
- Swollen belly
- Vomiting
- Constipation
In Older Children:
- Chronic constipation
- Poor growth
- Abdominal distension
- Poor appetite
Diagnosis
-
Contrast enema: Special X-ray of the colon
-
Rectal biopsy: Examination of tissue sample
-
Anorectal manometry: Testing muscle pressure
Treatment Options
Surgical Treatment
-
Pull-through procedure: Most common treatment
-
Temporary ostomy: May be needed in some cases
Post-operative Care
- Regular follow-up appointments
- Dietary modifications
- Monitoring for complications
Long-term Outlook
- Most children do well after surgery
- Regular medical follow-up is important
- Some may have ongoing bowel management needs
When to Seek Medical Attention
- Severe constipation
- Persistent vomiting
- Fever
- Swollen abdomen
- Failure to thrive
Support and Resources
Patients and families can find support through:
- Pediatric gastroenterologists
- Support groups
- Patient advocacy organizations