Hirschsprung disease

Hirschsprung's Disease: When the Intestine's Nerves Are Missing

Hirschsprung's disease is a congenital condition where a section of the large intestine lacks the nerve cells that move stool through the bowel. The area without nerves cannot relax, causing stool to build up above it, leading to severe constipation from birth. A review of the genetics of the disease reports an incidence of 1 in 5,000 live births, and the condition is seen more often in boys than in girls (Amiel J et al. J Med Genet 2008;45(1):1-14, PubMed).

The disease is named after the Danish paediatrician Harald Hirschsprung, who described it in 1888 at Queen Louise's Children's Hospital in Copenhagen.

What are the symptoms?

In newborns, the classic presentation includes:

• Failure to pass meconium (the first black stool) within the first 24 hours after birth
• Abdominal distension
• Vomiting, often bile-stained
• Failure to thrive

In older children and adults with shorter affected bowel segments, symptoms typically include:

• Severe chronic constipation from infancy
• Irregular, often explosive bowel movements after rectal examination
• Poor weight gain
• Recurrent abdominal pain and bloating

The most serious complication is Hirschsprung-associated enterocolitis, an acute inflammation of the bowel with fever, foul-smelling diarrhoea, and circulatory compromise. This requires hospitalisation and can be life-threatening.

Why does it happen?

During foetal development, nerve cells migrate from the neural crest down the intestine between the 5th and 12th week. In Hirschsprung's disease, this migration stops prematurely, resulting in a segment of the bowel – always starting at the rectum and extending upwards – lacking nerve cells in the bowel wall (aganglionosis).

The affected segment is most often short, involving only the rectum and lower sigmoid colon. In a smaller proportion the segment is long, and in rare cases the entire large intestine or parts of the small intestine are affected.

Some cases occur together with Down syndrome or other syndromes. RET is the main known gene in Hirschsprung disease, and inheritance is complex, with low and sex-dependent penetrance.

How is the diagnosis made?

• Contrast enema (colonography): shows the classic transition zone between the narrow aganglionic segment and the dilated normal bowel above.
• Anorectal manometry: the internal anal sphincter normally relaxes when the rectum is distended. This reflex is absent in Hirschsprung's disease.
• Rectal biopsy (suction biopsy): the definitive diagnosis. The tissue sample shows the absence of ganglion cells and thickened nerve fibres. Acetylcholinesterase staining confirms the finding.

In newborns, the diagnosis is most often made within the first few days; milder cases with short segments may only be recognised in childhood or in young adults with lifelong severe constipation.

Treatment

The treatment is surgical. The aganglionic segment is removed, and the healthy bowel is connected to the rectum close to the anal sphincter. The most common techniques include:

• Swenson, Duhamel, and Soave – classic pull-through operations
• Transanal endorectal pull-through (TEPT) – a modern minimally invasive technique without abdominal incision

Many children today are operated on without a temporary stoma. The results are good, but a number of children require long-term follow-up for bowel function and continence after surgery.

Life after surgery

The course after surgery varies, and some children experience problems such as:

• Constipation or incomplete emptying
• Episodes of enterocolitis in the first few years after surgery
• Faecal incontinence, especially at night in preschool-aged children
• Need for dietary advice and laxatives for a period

Adults who underwent surgery as children generally have a good quality of life, but a small group experiences persistent problems with continence or chronic constipation that require ongoing follow-up.

When should you seek medical attention?

Contact a doctor urgently if a newborn:

• Has not passed meconium within the first 24 hours
• Has a large, distended abdomen
• Is vomiting green (bile-stained) fluid
• Develops fever, bloody, or foul-smelling diarrhoea

In older children and adults, severe constipation from infancy, poor growth, and recurrent bloating should be investigated for late-onset Hirschsprung's disease.

Frequently Asked Questions

Is Hirschsprung's hereditary? Familial clustering occurs, particularly with long segments. Genetic counselling is offered if multiple family members are affected or if the child has other malformations.

Can the condition be outgrown? No. The aganglionic bowel segment is non-functional and must be surgically removed.

Can adults get Hirschsprung's? The disease is congenital, but very short segments may only be diagnosed in adulthood in individuals with lifelong severe constipation.

What is the prognosis? The course is individual. Some operated children achieve satisfactory bowel function, while others have ongoing functional problems, and follow-up is important in the first few years.

Can one lead a normal life after surgery? Many attend school and work without special limitations, while others have ongoing bowel problems that require follow-up.

References

1. Kessmann J. Hirschsprung's disease: diagnosis and management. Am Fam Physician. 2006;74(8):1319-1322. PubMed
2. Langer JC. Hirschsprung disease. Curr Opin Pediatr. 2013;25(3):368-374. PubMed
3. Sundhed.dk. Hirschsprungs sygdom (lægehåndbogen).
4. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008;45(1):1-14. PubMed

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This article provides general information and does not replace a medical consultation. Contact your doctor if you experience symptoms.