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Hirschsprung Disease: Causes, Symptoms & Treatment

Hirschsprung disease is a congenital condition affecting the large intestine in which nerve cells are absent, preventing normal bowel movement.

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Things worth knowing about "Hirschsprung disease"

Hirschsprung disease is a congenital condition affecting the large intestine in which nerve cells are absent, preventing normal bowel movement.

What is Hirschsprung Disease?

Hirschsprung disease (also called congenital aganglionic megacolon) is a birth defect of the large intestine (colon). In affected children, a segment of the colon lacks ganglion cells – specialized nerve cells that control the muscle contractions needed to move stool through the bowel (peristalsis). Without these nerve cells, the affected segment cannot relax and propel intestinal contents forward. This results in a functional blockage that typically becomes apparent shortly after birth or during the first weeks of life.

Causes

Hirschsprung disease develops during early pregnancy when precursor nerve cells (neural crest cells) fail to migrate completely into the wall of the colon. The exact cause is not always clear, but genetic factors play a significant role.

Genetic mutations: Mutations in the RET gene are the most common known genetic cause.
Family history: The condition can run in families, particularly in cases where a larger portion of the colon is affected.
Association with other conditions: Hirschsprung disease occurs more frequently in children with Trisomy 21 (Down syndrome).
Sex: Boys are approximately four times more likely to be affected than girls.

Symptoms

Symptoms usually appear shortly after birth, but milder cases may not be recognized until later in childhood.

Failure to pass meconium: Newborns normally pass their first stool (meconium) within 48 hours of birth. In Hirschsprung disease, this is often delayed or absent.
Swollen abdomen: The newborn's belly appears distended and tight.
Vomiting: Often green or yellow (bilious) vomiting due to intestinal obstruction.
Chronic constipation: Persistent, severe constipation in older infants and toddlers.
Poor growth: Insufficient weight gain and developmental delays.
Hirschsprung-associated enterocolitis: A serious complication involving fever, diarrhea, and abdominal pain, requiring urgent medical attention.

Diagnosis

Diagnosis is established through a combination of clinical evaluation and specialized diagnostic tests.

Rectal biopsy: This is the gold standard for diagnosis. A small tissue sample is taken from the rectum and examined for the presence of ganglion cells.
Contrast enema: An X-ray study using contrast material that reveals the narrowed, affected bowel segment and the transition zone to normal bowel.
Anorectal manometry: A pressure measurement test that detects the absence of the normal relaxation reflex of the internal anal sphincter.
Ultrasound: May be used as an initial assessment tool when abdominal distension is present.

Treatment

The only definitive treatment for Hirschsprung disease is surgery. The goal of the operation is to remove the affected, nerve cell-free segment of the bowel and connect the healthy bowel to the anal canal (a procedure called a pull-through operation).

Surgical Techniques

Soave procedure: The inner lining of the aganglionic segment is removed, and healthy bowel is pulled through the remaining muscular cuff.
Swenson procedure: The affected bowel segment is completely removed and the healthy colon is connected directly to the anus.
Duhamel procedure: The healthy colon is brought behind the retained rectal stump and joined together.

Before Surgery

In newborns who cannot undergo immediate surgery, a temporary colostomy (stoma) may be created to relieve the bowel obstruction and allow the child to stabilize.

Follow-up and Prognosis

Most children recover well after surgery. Long-term complications can include fecal incontinence, ongoing constipation, or recurrent enterocolitis. Regular follow-up appointments are important to monitor recovery and detect any complications early.

References

Amiel, J. et al. - Hirschsprung disease, associated syndromes and genetics: a review. Journal of Medical Genetics, 2008.
World Health Organization (WHO) - Congenital anomalies. Fact Sheet, 2023. Available at: https://www.who.int
Puri, P. (Ed.) - Newborn Surgery. 4th edition, CRC Press, 2017.

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