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Overview

What Is Hirschsprung Disease?

Hirschsprung disease is a condition present at birth in which nerve cells are missing from a segment of the colon, or large intestine. Without these cells, the affected area cannot relax and move stool normally. This can cause blockage, constipation, and swelling of the abdomen. Hirschsprung disease is most often recognized in newborns and children, although some people are diagnosed later.

Symptoms

Hirschsprung Disease Symptoms

  • Delayed passage of the first stool (meconium)
  • Abdominal swelling (distension)
  • Vomiting
  • Difficulty feeding
  • Constipation

Symptoms in older children and adults

  • Long-lasting constipation
  • Difficulty passing stool
  • Abdominal swelling
  • Poor growth
  • Repeated episodes of enterocolitis

Causes

What Causes Hirschsprung Disease?

During fetal development, enteric nerve cells do not form normally in part of the intestine. The affected segment lacks the ganglion cells needed to relax and push stool forward. As a result, stool can build up behind this area, contributing to the symptoms of Hirschsprung disease.

Genetic and developmental factors

Changes in certain genes can increase the chance of Hirschsprung disease, and the condition may occur with some genetic syndromes or congenital conditions. In some families, it can be inherited, but many children have no known family history. It is present from birth and is not caused by diet, parenting, or anything a parent did during pregnancy.

Risk Factors

Risk Factors for Hirschsprung Disease

  • A family history of Hirschsprung disease
  • Certain genetic changes associated with Hirschsprung disease
  • Down syndrome or another associated congenital condition
  • Male sex, particularly for shorter-segment disease
  • Having a sibling with Hirschsprung disease

Complications

Complications of Hirschsprung Disease

  • Hirschsprung-associated enterocolitis
  • Toxic megacolon
  • Bowel perforation
  • Dehydration
  • Malnutrition
  • Severe constipation
  • Ongoing bowel-control problems after treatment

SEEK URGENT CARE

Watch for signs of enterocolitis

Fever, worsening abdominal swelling, explosive or bloody diarrhea, vomiting, unusual sleepiness, or sudden deterioration may signal enterocolitis. Seek urgent medical evaluation if any of these symptoms occur.

Diagnosis

How Hirschsprung Disease Is Diagnosed

Clinicians review symptoms and medical history, examine the abdomen and rectum, and ask when the newborn first passed meconium and how bowel movements have changed. This information helps distinguish Hirschsprung disease from other causes of constipation or intestinal blockage.

  • Contrast enema to show the shape and movement of the colon
  • Anorectal manometry to assess muscle and nerve responses when appropriate
  • Rectal suction biopsy to confirm the diagnosis

A rectal biopsy examines tissue for the absence of ganglion cells, which confirms Hirschsprung disease. Genetic testing may be considered when a genetic syndrome or a family pattern is suspected.

Treatment & Management

Hirschsprung Disease Treatment and Management

Stabilization before surgery

The main treatment is surgery to remove the aganglionic bowel and connect healthy, nerve-containing bowel to the anus. This is commonly done with a pull-through procedure. Before surgery, clinicians may use rectal irrigations, intravenous fluids, antibiotics, and treatment for enterocolitis to stabilize the patient.

  • Monitoring bowel movements and abdominal symptoms
  • Treating constipation or stool soiling
  • Providing nutrition support when needed
  • Using pelvic-floor therapy or a bowel-management program when indicated
  • Following up with pediatric or colorectal specialists

Outlook and Prognosis

Outlook and Prognosis

Most children do well after appropriate Hirschsprung treatment. Recovery and bowel function can vary depending on how much bowel is affected, the age at treatment, complications, and associated conditions. Some people continue to need bowel care during childhood or adulthood.

  • Constipation
  • Fecal soiling
  • Urgency to have a bowel movement
  • Ongoing abdominal symptoms
  • Episodes of enterocolitis
  • Need for additional bowel-management treatment

When Should You See a Doctor

When Should You See a Doctor?

  • A newborn has not passed meconium
  • Constipation has continued since infancy
  • A child is not growing as expected
  • Abdominal swelling keeps returning
  • There is chronic difficulty passing stool

GET URGENT MEDICAL HELP

Know the warning signs

Seek urgent or emergency care for severe abdominal swelling, green or bloody vomit, fever, explosive or bloody diarrhea, lethargy, dehydration, severe pain, or rapid worsening.

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