Hirschsprung disease, a congenital cause of neonatal bowel obstruction with excellent long-term outcomes after specialist surgery.

It is a congenital condition where the nerve cells (ganglia) of the submucosal Meissner and myenteric Auerbach plexuses fail to develop in the distal bowel. The affected segment cannot relax, so stool cannot pass through - creating a functional obstruction from birth.

It affects about 1 in 5,000 live births, with boys affected around four times more often than girls. Around 10 per cent of children with Down syndrome have Hirschsprung, and it is also linked with Waardenburg-Shah syndrome, MEN2A and congenital central hypoventilation.

History and examination raise the suspicion. An abdominal X-ray and contrast enema help; anorectal manometry can show an absent recto-anal inhibitory reflex. The gold standard is a suction rectal biopsy, read by a specialist paediatric pathologist using H&E, acetylcholinesterase and calretinin staining.

Definitive surgery removes the aganglionic segment and joins healthy bowel to the anus. The Swenson, Duhamel and Soave techniques all achieve this in slightly different ways, most commonly performed laparoscopically or transanally at specialist commissioned paediatric surgical centres such as Great Ormond Street, Alder Hey and Birmingham Children’s.

HAEC is an inflammatory complication that can occur before or after surgery. It presents with fever, foul-smelling diarrhoea, abdominal distension and sometimes sepsis. It is a specialist emergency and needs urgent intravenous antibiotics, rectal washouts and paediatric surgical review.

Most children do well, but constipation, soiling and occasional HAEC episodes are recognised long-term issues. Ongoing input from specialist paediatric surgery, gastroenterology and a bowel-function clinic - and support from the Hirschsprung’s & Motility Disorders Support Network - makes a real difference.