Hirschsprung's Disease Overview and Management
Learn about Hirschsprung's disease, a congenital condition affecting bowel movements in children. Discover its causes, symptoms, diagnosis, treatment options, and post-surgery care.
Written by Dr. Vasanthasree Nair
Reviewed by Dr. Mohammed Kamran MBBS, FIDM
Last updated on 21st Aug, 2025
Hirschsprung's disease is a rare condition that affects the large intestine (colon) and causes problems with passing stool. It is present at birth (congenital) and occurs when nerve cells are missing from parts of the intestine, making it difficult for the muscles to push stool through. This leads to severe constipation, blockages, and other digestive issues.
While it can be concerning for parents, early diagnosis and proper treatment can help children lead healthy lives. This article explains Hirschsprung's disease in simple terms, covering its causes, symptoms, diagnosis, and management.
What Causes Hirschsprung's Disease?
Hirschsprung's disease happens when nerve cells (ganglion cells) in the colon do not develop properly before birth. These nerve cells help the muscles in the intestine contract and relax, allowing stool to pass through. Without them, stool gets stuck, leading to blockages.
The exact cause is unknown, but factors that may contribute include:
- Genetic mutations – Some cases are linked to inherited genes.
- Family history – Having a sibling with the condition increases the risk.
- Other medical conditions – It may occur alongside Down syndrome or other congenital disorders.
Symptoms of Hirschsprung's Disease
Symptoms usually appear shortly after birth, but in mild cases, they may not be noticeable until later in childhood. Common signs include:
In Newborns:
- Failure to pass meconium (the first stool) within 48 hours after birth
- Swollen belly (abdominal distension)
- Vomiting (sometimes green or brown vomit)
- Refusal to feed
In Older Infants & Children:
- Chronic constipation that doesn’t improve with usual treatments
- Swollen abdomen
- Slow growth or weight gain
- Diarrhea (due to infection in the blocked intestine)
If left untreated, Hirschsprung's disease can lead to serious complications like enterocolitis (a life-threatening intestinal infection).
How Is Hirschsprung's Disease Diagnosed?
If a doctor suspects Hirschsprung's disease, they may recommend the following tests:
1. Rectal Biopsy – A small tissue sample from the rectum is taken to check for missing nerve cells.
2. Barium Enema X-ray – A special dye helps highlight the intestine to see blockages.
3. Anorectal Manometry – Measures muscle reflexes in the rectum (used in older children).
Early diagnosis is crucial to prevent complications.
Treatment Options for Hirschsprung's Disease
The main treatment is surgery to remove the affected part of the intestine and connect the healthy part to the anus. There are two common procedures:
1. Pull-Through Surgery – The diseased section is removed, and the healthy intestine is pulled down and attached to the anus.
2. Ostomy Surgery (Temporary) – In severe cases, a stoma (opening) is created to allow stool to pass into a bag outside the body before a second surgery connects the intestine.
Most children recover well after surgery, but some may still experience constipation or bowel control issues, which can be managed with diet and medications.
Consult Top General Practitioner
Managing Life After Surgery
After surgery, children may need some time to adjust. Here are some ways to support their recovery:
1. Diet Adjustments
- High-fiber foods (fruits, vegetables, whole grains) help soften stool.
- Plenty of fluids prevent dehydration and constipation.
- Probiotics (yogurt, kefir) support gut health.
2. Bowel Training
- Encourage regular toilet habits.
- Use stool softeners if needed (as advised by a doctor).
3. Monitoring for Complications
- Watch for signs of infection (fever, diarrhea, vomiting).
- Follow up with the doctor for regular check-ups.
When to See a Doctor?
If your child shows symptoms like severe constipation, a swollen belly, or vomiting, consult a pediatrician immediately. Early intervention prevents complications.
At Apollo 24|7, you can book consultations with pediatric gastroenterologists or surgeons who specialize in Hirschsprung's disease. You can also schedule diagnostic tests if needed.
Final Thoughts
Hirschsprung's disease is a manageable condition with timely treatment. While it can be stressful for parents, most children lead normal, healthy lives after surgery. If you suspect your child has symptoms, don’t hesitate to seek medical advice.
For expert care, visit Apollo 24|7 to book an appointment or learn more about pediatric digestive health.
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