Hirschsprung's disease

Hirschsprung's disease is a congenital disorder in which nerve cells in parts of the large intestine are missing. Due to the lack of intestinal innervation, the stool cannot be transported further and backs up.

Newborns typically have a delayed first bowel movement, a distended abdomen and difficulty passing stools. In some cases, newborns show severe symptoms of illness.

If Hirschsprung's disease is suspected, an X-ray of the abdomen is performed first after a contrast agent has been administered via the anus. To confirm the diagnosis, tiny tissue samples (measuring approx. 1 mm) are taken and analysed in the laboratory. This procedure is completely painless and can be carried out on an awake newborn without any problems. If Hirschsprung's disease is suspected in an older child, these tissue samples are taken under a short anaesthetic. This procedure is performed on an outpatient basis.

The treatment of Hirschsprung's disease consists of so-called pull-through surgery, which is performed at the UKBB using minimally invasive techniques with tiny incisions in the anus. The diseased section of bowel with missing nerve cells is surgically removed. If Hirschsprung's disease is extensive and affects larger parts of the colon, the pull-through operation is supplemented with a laparoscopy under the same anaesthetic. In particularly sick children, it may be necessary to temporarily insert an artificial anus before the pull-through operation.

Hospitalisation after pull-through surgery typically lasts a week.

Before and after the pull-through operation, children with Hirschsprung's disease can develop a clinical picture known as Hirschsprung's-associated enterocolitis. The children have difficulty passing stools, have a distended abdomen and show symptoms such as fatigue, lethargy and fever. Parents are instructed to visit our emergency ward immediately in this case. Hirschsprung's enterocolitis is treated with regular rectal enemas, intravenous fluids and intravenous antibiotics. As one of the leading centres, the UKBB is conducting multi-centre studies to detect Hirschsprung's enterocolitis even earlier.

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