University Hospital Southampton NHS Foundation Trust

Hirschsprung's disease

Hirschsprung’s disease (HD) is a rare condition which affects the nerve cells (known as ganglion cells) of the bowel.The ganglion cells control the muscles of the bowel, and these muscles push along the bowel contents.

There is no known cause for HD, although it can run in families. It occurs in 1 in 5000 babies and is more common in boys than girls.

HD affects the rectum and a variable length of the large bowel above it. This length is usually a few centimetres but sometimes may affect the entire large intestine.

Hirschsprung's DiseaseIn HD the ganglion cells are missing from the bowel. Contents are pushed along until they reach the affected part of bowel where the passage slows and a blockage occurs.

What are the symptoms of Hirschsprung's disease?

There is normally a delay in your baby passing meconium (black sticky stool normally passed within 24 hours of delivery).

Many babies with HD present at around three days of age having never had their bowels open. Your baby may be reluctant to feed and may vomit a green fluid called bile which would normally pass through the bowel.

Your baby may be uncomfortable because of constipation and trapped air in the bowel. The abdomen (tummy) becomes distended. Sometimes the bowels become inflamed and a very serious infection called enterocolitis can develop. 

What is the initial treatment?

  • Milk feeds will be stopped.

  • A tube will be passed through the nose into the stomach to drain away any fluid and air collecting in it.

  • Fluids will be given through a vein (drip).

  • Your baby will need to have washouts to decompress the bowel and reduce discomfort. Usually the washouts will need to be done once or twice every day and will take 20-30 minutes.

Bowel washouts empty the lower large bowel of air and stool and reduce the risk of enterocolitis developing. Occasionally the abdomen cannot be decompressed adequately by washouts. Your baby would then need an operation (colostomy formation) to ensure that the bowel remains decompressed.

How is Hirschsprung's disease diagnosed?

An X-ray of your baby’s abdomen will show dilated bowels. The only way to test your baby for HD is by taking a sample of tissue from the lining of the rectum with a small instrument through your baby’s bottom. This is called a Rectal Suction Biopsy. The sample is sent to the laboratory for examination under a microscope. The results will be available in approximately five working days.

Sometimes following a rectal suction biopsy bleeding occurs from the biopsy site. If this happens the blood will be passed through the anus into the nappy. Any bleeding is usually minimal and stops within 24 hrs of the biopsy.

Bowel washouts are continued while waiting for the results of the rectal suction biopsy. They will be continued if HD is confirmed until the major operation for HD is performed. 

Is there any treatment while awaiting corrective surgery?

Your baby may need to remain in hospital while having bowel washouts and waiting for surgery. Sometimes your baby may go home and return to hospital daily for the washouts, or community nurses may do the washouts at home. During this time your baby should be able to feed normally.

While awaiting surgery your baby remains at risk of developing enterocolitis.

What is enterocolitis?

Enterocolitis is an infection of the large bowel and is a potentially very serious complication of HD. It is treated with antibiotics (given through a drip into a vein) and regular bowel washouts. Some babies who develop enterocolitis need to have a stoma formed.

What are the symptoms of enterocolitis?

  • Distended abdomen (tummy)
  • Reluctance to feed
  • Vomiting - this may be green in colour
  • Explosive / offensive watery stools
  • A high temperature
  • Tummy ache
  • Dehydration (baby is pale and floppy)

We can provide you with a laminated medical alert card if you wish.

Enterocolitis can occur both before and after surgery but the risk after surgery is much less.

If you are at all concerned about your baby please seek medical advice urgently.

Corrective surgery

This operation is called a 'Pull through' and is usually performed at a few weeks/months of age. It involves taking out the part of the bowel affected by HD and connecting the healthy bowel to the anus. Sometimes this can be done using a laparoscopic approach (keyhole surgery). Your baby will be in hospital for 5-7 days after the operation.

What are the long term effects of Hirschsprung's disease?

Many babies with HD suffer with long term problems such as diarrhoea, constipation, soiling and abdominal pain and you may find that your child takes longer to toilet train. Sometimes medicines are needed to help with these problems.

Following discharge from hospital, your baby will be seen in the outpatients department by members of the surgical team, where help and advice will be available to you. It is usually possible for this follow up to take place in your local hospital. Follow up appointments will usually occur on a regular basis for some years.

Parent to parent link

Many parents who have experienced this same condition with their baby have indicated that they would be willing to speak with other parents. If you would like to speak with another family please contact us.

Disclaimer

University Hospital Southampton NHS Foundation Trust produce guidelines as an aid to good clinical practice. They represent recognised methods and techniques of clinical practice, based on published evidence. The ultimate judgement regarding a particular clinical procedure or treatment must be made by the clinician in the light of the clinical data presented by the patient and the diagnostic or treatment options available. The guidelines issued are not intended to be prescriptive directions defining a single course of management and departure from the local guidelines should be fully documented in the patient's case notes at the time the relevant decision is taken.