In this article:
What is Hirschsprung’s Disease?
Hirschsprung’s disease is a condition present at birth that affects the large intestine, also called the colon. In a healthy colon, nerve cells called ganglion cells help the muscles contract to push stool out of the body.When a baby has Hirschsprung’s disease, these nerve cells are missing in the lower part of the colon. This issue, called aganglionosis, stops the bowel from working properly. As a result, stool builds up and can cause pain, swelling, blockage, and other complications.
Why Does Hirschsprung’s Disease Happen?
The exact reason why it occurs isn’t fully clear. But it happens during pregnancy when nerve cells don’t properly develop in the baby’s digestive system.Some causes of Hirschsprung’s disease include:
- Developmental issue: During early pregnancy, nerve cells should form along the entire digestive tract. In Hirschsprung’s disease, this process stops too soon, leaving part of the colon without these essential cells.
- Genetic link: The risk is higher for your baby if a parent or sibling has had this condition.
- Associated conditions: It’s sometimes linked with genetic disorders like Down syndrome or other congenital issues.
What Are the Symptoms of Hirschsprung’s Disease in Newborns?
Catching Hirschsprung’s disease early is important for your baby’s health. Most symptoms show up soon after birth, though they can sometimes be missed in milder cases.This is what to watch for in newborns:
- No bowel movement: If your newborn hasn’t passed their first stool (meconium) within 48 hours, it’s often a warning sign.
- Swollen belly: A bloated or swollen abdomen can mean there's a blockage in the colon.
- Vomiting: Look out for green or brown vomit, which could signal an intestinal issue.
- Feeding problems: Your baby may not want to feed or may take very little milk.
- Explosive stools or diarrhoea: In some cases, newborns may have watery diarrhoea or infrequent but forceful bowel movements.
What Are the Symptoms of Hirschsprung’s Disease in Older Infants?
Sometimes Hirschsprung’s disease isn’t diagnosed at birth and may only become noticeable as your child grows.Symptoms in older infants or children include:
- Ongoing constipation: Your child stays constipated despite changes in diet or using laxatives.
- Stomach bloating: A visibly swollen belly due to trapped stool.
- Poor growth: Your child may not gain weight properly or may grow more slowly than expected.
- Fatigue or irritability: Discomfort from constipation can make your child tired or cranky.
- Unusual stools: Bowel movements may be ribbon-like, foul-smelling, or impacted (hard and stuck).
How is Hirschsprung’s Disease Diagnosed?
This is how diagnosis typically happens:- Abdominal X-ray or contrast enema: These imaging tests can show blockages or abnormal areas in the colon.
- Anorectal manometry: This test measures how well the nerves in the rectum respond by using a small inflatable balloon.
- Rectal biopsy: It's considered the most reliable test, where a small tissue sample from the rectum is checked for missing nerve cells.
What Are the Treatment Options for Hirschsprung’s Disease?
Treatment of Hirschsprung disease usually involves surgery. The goal is to remove the affected part of the colon and restore normal bowel function. Here’s what treatment involves:
- Pull-through surgery: This is the most common procedure, where the surgeon removes the section of the colon without nerve cells and connects the healthy part directly to the anus. This allows stool to pass normally.
- Ostomy surgery: If the baby is very young or unwell, a temporary ostomy is done. The surgeon creates an opening in the abdomen (called a colostomy) to let stool pass into a bag. Later, a second surgery connects the healthy colon to the anus, and the colostomy is removed.
- Serial rectal irrigation: Before surgery, this procedure may be used to relieve pressure in the bowel by clearing out blockages.
Hirschsprung’s disease can be challenging for both you and your child, but the important thing to remember is that it’s treatable. Early diagnosis and the right medical care make a big difference. If you ever feel uncertain, reach out to your doctor for guidance.
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FAQs on What Parents Must Know About Hirschsprung's Disease in Infants
- Are repeated surgeries ever needed for Hirschsprung’s disease?
Yes, your baby might need another surgery if the first “pull-through” operation doesn’t completely fix their bowel problems. Additional surgery could also be needed if issues like strictures or recurrent bowel infections occur. - Are there different types of Hirschsprung’s disease?
Yes, it can be classified by the length of the affected bowel segment, such as short-segment, long-segment, or total colonic aganglionosis.
