Hirschsprung's disease

A section of bowel born without nerve cells. A newborn who has not passed meconium in 48 hours needs assessing.

What it is

A condition present from birth in which a segment of the large bowel has no nerve cells, so it cannot relax and pass stool. The bowel above becomes hugely distended.

It affects around 1 in 5,000 babies, more boys than girls, and is more common in Down's syndrome.

Most cases are diagnosed in the newborn period. **The key sign is failure to pass meconium, the first stool, within 48 hours of birth**, along with a swollen abdomen and vomiting that may be green.

Some children with a short affected segment present later, with severe lifelong constipation from birth, poor growth, and a distended abdomen. The distinguishing feature from ordinary childhood constipation is that it has been there since birth and there is usually no soiling, whereas ordinary constipation typically starts later and often causes overflow soiling.

Diagnosis is by rectal biopsy. Treatment is surgery to remove or bypass the affected segment.

**Hirschsprung-associated enterocolitis is the emergency.** It causes fever, a swollen abdomen, explosive foul diarrhoea and rapid deterioration, and it can be fatal. It can occur before or after surgery, and every family should know the signs.

Signs you might notice

In a newborn: not passing meconium within 48 hours; a swollen abdomen; vomiting, especially green bile-stained vomit; refusing feeds.

In an older baby or child: severe constipation from birth; a very distended abdomen; poor weight gain; explosive release of stool and gas after a rectal examination; and, unlike ordinary constipation, usually no soiling.

**999 or A and E** for suspected enterocolitis: fever, a swollen tender abdomen, explosive foul-smelling diarrhoea, vomiting, lethargy or a baby who looks unwell. This can progress within hours.

Also urgent: green vomit in any baby, at any time, which is an obstruction until proven otherwise.

Constipation present from the first weeks of life, rather than starting later, deserves specialist assessment.

How it can affect day-to-day life

After surgery most children do well, and many have entirely normal bowel function. A significant minority have ongoing problems: constipation, soiling, or frequent stools, and these need active management rather than being accepted.

Enterocolitis remains a risk for years after surgery, and families need written instructions on the warning signs and a direct number to ring. That is the single most important safety measure.

Toilet training is often delayed and needs a tailored approach with specialist nurse support.

Soiling after surgery causes significant distress and social difficulty at school, and it is a medical problem needing a bowel management programme rather than a behavioural one.

For children with Down's syndrome, the diagnosis is sometimes delayed because constipation is common in that group and attributed to the syndrome.

Transition to adult services is a known weak point, and long-term bowel problems continue into adulthood for some.

Supporting someone well

Ask about meconium: not passed within 48 hours of birth is a reason to assess.

Treat green vomiting in a baby as an emergency.

For constipation present from the first weeks of life, ask for specialist assessment rather than repeated laxatives.

Learn the enterocolitis warning signs and keep the emergency number to hand. This saves lives.

After surgery, expect a period of adjustment and ask for specialist nurse support with toilet training and bowel management.

Treat soiling as a medical problem with a bowel management programme, and tell the school so it is supported.

Ask about long-term follow-up and transition to adult services.

For a child with Down's syndrome and severe constipation from birth, ask specifically whether Hirschsprung's has been excluded.

Where to get help

999 or A and E for suspected enterocolitis or green vomiting.

The paediatric surgical team and specialist nurse, who should provide a written emergency plan.

A GP practice or health visitor for constipation from birth.

Guts UK and ERIC, the children's bowel and bladder charity, for ongoing bowel management support.