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Hirschsprung's disease - Symptoms & causes

July 31, 2025

Hirschsprung's disease is an unusual but severe condition present at birth that occurs in the large intestine (colon) and interferes with stool passage in those affected, particularly newborns and young children. It is caused by a lack of nerve cells in some areas of the colon, disrupting bowel movements.

Early detection of Hirschsprung's disease is important. If it's left undiagnosed and untreated, it can cause severe constipation, infection in the intestine, or life-threatening complications. Since this ailment mostly occurs in infants, early identification of symptoms followed by immediate hirschsprung's treatment can significantly enhance outcomes and quality of life.

What is Hirschsprung's Disease?

Hirschsprung's disease is a birth defect that exists at birth. In plain language, it affects the nerves of the intestines that are meant to propel stool through the bowel. Under normal circumstances, the muscles of the colon contract to push the waste through the digestive system. These movements are regulated by nerve cells referred to as ganglion cells. In infants with Hirschsprung's disease, these nerve cells are absent from part of the bowel, usually the end portion, which causes an obstruction.

This lack of ganglion cells is referred to as aganglionosis, which prevents the bowels from moving normally. Without the nerve cells, stool can't be forced through the intestines, which causes it to accumulate and become very uncomfortable. This necessitates Hirschsprung's treatment at an early stage to avoid complications

Also Read: Common Digestive Disorders in Kids

Symptoms and Signs of Hirschsprung's Disease

The signs of Hirschsprung disease typically start within the first few days after birth. Some of the most frequent symptoms are:

  • Failure to have a bowel movement (pass meconium, first stool) within 48 hours after birth
  • Swollen abdomen
  • Vomiting, particularly green or brown vomit
  • Severe constipation or gas
  • Resistance to feeding or poor feeding

These symptoms can be a sign of a bowel obstruction, a medical emergency that needs immediate medical care.

Symptoms in Older Children

Although the condition is usually diagnosed at birth, mild instances might not be noticed until later in childhood. In older kids, indications of Hirschsprung disease could be:

  • Long-term constipation that does not respond to conventional treatment
  • Bloating or swelling of the stomach
  • Delayed growth or failure to thrive
  • Irritability or fatigue because of pain
  • Odorous or ribbon-like bowel movements

Also Read: Common Neurological Disorders in Children: Signs and Symptoms

Causes of Hirschsprung's Disease

The cause of Hirschsprung disease stems from a developmental issue during fetal growth. During early pregnancy, nerve cells usually develop along the digestive system. In infants with Hirschsprung's disease, this process fails to occur, and nerve cells don't reach the end of the colon.

This lost nerve function is responsible for the blockage. The aetiology of Hirschsprung disease tends to be genetic, and in some cases, there may be a familial tendency. Researchers have identified associations with certain gene mutations that disrupt nerve cell formation.

What Are the Risk Factors?

A number of factors raise the risk of Hirschsprung's disease:

  • Family history: Having a sibling or parent with the disease
  • Gender: It occurs more in males
  • Genetic disorders: Particularly own syndrome and other congenital defects

How is Hirschsprung's Disease Diagnosed?

Diagnosis of this disorder combines a medical history, physical examination, and some specialised tests. Some of the common diagnostic tests include:

  • Abdominal X-ray or contrast enema: To determine blockages in the bowel
  • Rectal biopsy: The most definitive test that involves taking a tissue sample from the rectum to check for missing nerve cells

  • Anorectal manometry: A diagnostic test to record the reflexes of nerves in the rectum

Early treatment is key to a good prognosis and allows for early intervention in Hirschsprung's disease.

How is Hirschsprung's Disease Treated and Managed?

The treatment of Hirschsprung's disease is primarily surgical. Most often, the surgical procedures are:

  • Pull-through surgery: Cutting out the diseased portion and joining the normal part to the anus
  • Ostomy surgery (in certain situations): Diverting stool temporarily using an opening in the belly

Book an online appointment with Dr. Ankur Gupta for Peadiatric related issues.
Why Trust Cloudnine for Hirschsprung's Disease Care?

At Cloudnine Hospitals, we know how daunting it can be for parents to receive a diagnosis of Hirschsprung's disease. That's why we offer end-to-end, multidisciplinary care by expert paediatricians. With cutting-edge diagnostic equipment, child-friendly infrastructure, and supportive care teams, Cloudnine ensures prompt diagnosis, accurate surgical intervention, and complete aftercare. Our experience and understanding make us one of the most reliable names in child care.

With Cloudnine, you're not just getting medical treatment, you’re gaining a trusted partner who walks with you every step of the journey toward recovery and a healthier future for your child.

Conclusion

Hirschsprung's disease is a condition one is born with, and if not treated early, it can severely affect a child's digestive well-being. Knowing the signs of Hirschsprung disease, understanding the underlying cause, and receiving treatment at the right time can lead to optimal results.

Cloudnine Hospitals is dedicated to guiding families through this process with outstanding clinical care and emotional guidance. Don't overlook symptoms of digestive distress in your child—early treatment can be the key.

If your child is exhibiting symptoms of Hirschsprung's disease, schedule a consultation with a Cloudnine expert today and begin the journey toward a bright future.

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