Hirschsprung disease is a rare congenital condition in which parts of the intestine lack ganglion cells, the nerve cells responsible for coordinating the movement of stool through the bowel. This causes a functional blockage, leading to constipation, abdominal swelling, vomiting, poor feeding and failure to pass stool soon after birth. Diagnosis may involve X-rays, contrast enemas and, most importantly, a rectal biopsy. Treatment usually involves pull-through surgery to remove the affected bowel and connect healthy, ganglionated intestine to the anus. Some babies may temporarily require an ostomy. With surgery, bowel management, good nutrition and regular follow-up, most children can achieve good bowel function and enjoy a healthy quality of life.
Hirschsprung disease is a rare congenital condition that affects the nerve cells in the intestines. These special nerve cells are called ganglion cells and play an important role in coordinating the movement of digestive waste (stool) through the bowel. Babies born with Hirschsprung disease have a segment of intestine that lacks ganglion cells. The affected portion cannot relax normally, causing a functional blockage and preventing stool from passing through normally. This can lead to serious complications and requires medical evaluation and treatment. Thankfully, it is a rare disease, affecting approximately 1 in 5,000 babies. The disease is more common in male infants.
Depending on the location and extent of the loss of ganglion cells, Hirschsprung disease can be divided into three main types:
Long-segment Hirschsprung disease – This is a form of the disease in which a longer part of the colon lacks ganglion cells. The affected segment extends beyond the sigmoid colon and may involve a substantial portion of the large intestine.
Short-segment Hirschsprung disease – Babies with this form of the disease have no ganglion cells in the rectum and usually the sigmoid colon. The portion of the colon further up generally has healthy ganglion cells. This is the most common form of Hirschsprung disease.
Total colonic aganglionosis – In this form, the entire colon lacks ganglion cells. This is a rare form of Hirschsprung disease. In very rare cases, the absence of ganglion cells may extend into part of the small intestine as well.
Babies born with this disease usually exhibit these symptoms within the first 24 to 48 hours of being born:
Diarrhoea can also occur, particularly when a child develops Hirschsprung-associated enterocolitis, a serious complication of the condition.
Sometimes, the condition may be diagnosed in older babies or children if they have any of the symptoms mentioned above. They may also have chronic constipation, abdominal swelling and poor weight gain or growth.
If the baby hasn’t passed stool within 24 to 48 hours of birth, paediatricians will check for a swollen or painful belly. They may also perform an examination of the baby’s rectum. An abdominal X-ray may be performed to look for signs of bowel obstruction.
Further investigation may be needed in the form of a contrast enema. This can help doctors identify changes in the bowel and locate the transition zone between normal and affected intestine.
The doctor may also need to perform a rectal biopsy to check for the presence or absence of ganglion cells. A rectal biopsy is the definitive test used to confirm Hirschsprung disease.
There is no medication that can cure Hirschsprung disease. However, surgical treatment can correct the bowel obstruction caused by the absence of ganglion cells and significantly improve the patient’s quality of life. Patients may undergo one of the following procedures:
Pull-through surgery – This is a surgery in which the aganglionic portion of the intestine is removed or bypassed. The surgeon then brings healthy, ganglionated intestine down and connects it to the anus. This can be performed laparoscopically or through an open procedure. It is the standard definitive surgical treatment for Hirschsprung disease.
Children usually feel much better after the procedure, but some may experience complications including faecal soiling or incontinence, constipation and Hirschsprung-associated enterocolitis. The patient will be monitored carefully after surgery to identify and manage these symptoms.
Ostomy surgery – Sometimes paediatricians may recommend an ostomy before performing the pull-through procedure, particularly when a child is very unwell or has serious complications such as severe enterocolitis, significant bowel obstruction or intestinal perforation. An ostomy procedure creates a “stoma” on the child’s abdomen. This is a new opening through which digestive waste can leave the body. Depending on the type of ostomy, a healthy portion of the intestine is brought through the abdominal wall and connected to the stoma.
A special ostomy bag is attached to the skin around the stoma to collect stool. The bag can be emptied at regular intervals, and the skin around the stoma must be kept clean and monitored carefully. An ostomy may be temporary, with the bowel later being reconnected during definitive surgery.
In addition to surgery, some children may also need bowel management. This may include bowel irrigation or enemas to help clear the bowel, particularly before definitive surgery or in children with ongoing bowel problems. Other treatments may be recommended depending on the child’s symptoms and response to surgery. Older children with persistent bowel-control problems may occasionally benefit from specialised therapies such as biofeedback, but these are not routine treatments for babies with Hirschsprung disease.
If the surgery is successful, the baby will usually begin to feel much better as they recover. The patient may still have some constipation or a few soiling accidents. However, the paediatricians will work with the parents on bowel management and help the child manage these problems better.
The baby will also need careful nutrition and regular follow-up care. Depending on the child’s needs, follow-up may involve a paediatric surgeon, paediatric gastroenterologist or a specialised bowel-management team.
Some children may experience long-term bowel problems such as constipation, faecal soiling or episodes of enterocolitis. Some children may also have difficulties with growth, particularly if they have had significant complications. However, most children can do well after appropriate treatment. With the right medical team and appropriate supportive care, the child can go on to live a comfortable and happy life.
If your child is showing symptoms of Hirschsprung disease or has persistent digestive concerns, expert care is available. The specialist team at Kauvery Hospital, with branches in Chennai, Hosur, Salem, Tirunelveli, and Trichy, provides comprehensive diagnosis, treatment, and support for your child’s health and wellbeing.
What are the first symptoms of Hirschsprung disease in babies?
Common early signs include failure to pass stool within 24–48 hours after birth, abdominal swelling, vomiting, poor feeding, constipation and gas or bloating.
Can Hirschsprung disease be diagnosed in older children?
Yes. Some children are diagnosed later because of persistent constipation, abdominal swelling, poor weight gain or other ongoing bowel problems.
How is Hirschsprung disease diagnosed?
Doctors may use an abdominal X-ray and contrast enema to assess the bowel. A rectal biopsy is the definitive test used to confirm the absence of ganglion cells.
Can Hirschsprung disease be treated without surgery?
There is no medication that cures Hirschsprung disease. Bowel irrigation or enemas may help manage bowel obstruction or symptoms, but surgery is usually required for definitive treatment.
What is pull-through surgery for Hirschsprung disease?
Pull-through surgery removes or bypasses the affected bowel segment and connects healthy, ganglionated intestine to the anus. It is the standard definitive surgical treatment.
Will my child have bowel problems after Hirschsprung disease surgery?
Some children may experience constipation, faecal soiling, incontinence or episodes of Hirschsprung-associated enterocolitis after surgery. Bowel management and regular follow-up can help manage these problems.
When should I take my child to a paediatrician for possible Hirschsprung disease?
Seek medical evaluation if a newborn does not pass stool within 24–48 hours, particularly if there is abdominal swelling, vomiting, poor feeding or constipation. Persistent symptoms in older children also require assessment by a paediatrician.
Kauvery Hospital is globally known for its multidisciplinary services at all its Centers of Excellence, and for its comprehensive, Avant-Grade technology, especially in diagnostics and remedial care in heart diseases, transplantation, vascular and neurosciences medicine. Located in the heart of Trichy (Tennur, Royal Road and Alexandria Road (Cantonment), Chennai (Alwarpet, Radial Road & Vadapalani), Hosur, Salem, Tirunelveli and Bengaluru, the hospital also renders adult and paediatric trauma care.
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