Hirschsprung’s disease

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What is Hirschsprung’s disease?

Hirschsprung’s disease is a rare medical condition that causes blockages of the bowel.

Usually, the bowel squeezes and relaxes to push poo along and out of the bottom. In Hirschsprung’s disease, the bowel is not able to relax which means poo gets stuck causing blockages.

The reason the bowel does not relax is because nerve cells – called ganglion cells – are missing from part of the bowel.

Hirschsprung’s disease is usually treated with surgery.

About 1 in every 5,000 babies born in the UK are diagnosed with Hirschsprung’s disease.

Boys are 4 times more likely have Hirschsprung’s disease than girls.

Signs of Hirschprung’s disease

Signs of the condition include:

  • not passing meconium in the first 48hrs – meconium is the dark tar-like poo usually passed by babies soon after birth
  • vomiting green bile
  • a swollen tummy
  • in older children, severe constipation

Causes

Hirschprung’s disease is when the nerve cells (gangolion cells) are missing. These cells cause the bowel to relax and contract to push poo along and out the bottom. When they are not present the bowel becomes blocked.

Hirschsprung’s disease usually affects only the rectum and sigmoid colon (large bowel).

Sometimes it can affect longer sections of colon. It is rare for it to affect the small bowel.

The cause of Hirschprung’s disease is not known. The condition is not caused by anything the parents have done or not done during pregnancy.

It is associated with genetic mutations and it can sometimes run in families.

Most children with Hirschsprung’s disease do not have any other medical conditions and have no family history of the condition.

If your baby has Hirshsprung’s disease you are more likely to have another child with the condition. Our clinical genetics team can give more information about this.

The condition is sometimes associated with other genetic conditions such as Down’s syndrome.

Further information about Down’s syndrome

What is Down’s syndrome?

Down’s Syndrome Association: Homepage

Down’s Syndrome Association: For New Parents

Diagnosis

Rectal biopsy

Hirschsprung’s disease is diagnosed by looking at a tissue sample under a microscope to see if the nerve cells (ganglion cells) are missing.

In babies, a tiny piece of tissue is taken from the rectum using a suction device called a biopsy gun which is inserted into the bottom.

In older children, the biopsy is performed in the operating theatre under a general anaesthetic.

Contrast enema

A contrast enema is a thick liquid that shows up on X-ray.

The liquid is inserted into your baby’s bottom and means the lower digestive system can be seen on X-ray.

Treatment

All children with Hirschsprung’s disease will need surgery.

While they wait for surgery, they may need:

  • rectal washouts: A thin tube is inserted into your baby’s bottom and warm saltwater is used to wash out trapped poo. This is usually done 1- 2 times a day. Parents can learn how to do this at home
  • a temporary stoma: If the child is older or if rectal washouts do not remove enough poo, a temporary stoma can be fitted. A stoma is where the small intestine is brought to the surface of the tummy and poo collects in a pouch. The stoma is removed after surgery

Surgery

Babies cared for at Manchester Centre for Neonatal Surgery (MCNS) are offered a ‘pull through’ operation within their first few months.

During the operation, the section of bowel affected by Hirschsprung’s disease is removed and the two ends of the healthy bowel are connected together.

Complications

Enterocolitis

Children with Hirschsprung’s disease are at risk of enterocolitis.

It is a serious condition that can develop very quickly and can sometimes be life threatening.

The signs of enterocolitis are:

  • a swollen tummy
  • explosive and smelly poo (sometimes with blood)

If your baby has these signs they should be taken to hospital urgently.

Outlook

After a ‘pull through’ operation, children are at risk of:

  • constipation
  • incontinence of poo

There are medical treatments available for these problems if they arise and occasionally further operations are needed to help with them.

All children will have regular follow up appointments in our specialist clinics.