Introduction
Hirschsprung disease is a birth defect in which nerve cells (ganglion cells) are missing from parts of the colon, preventing normal movement of stool. It commonly presents in newborns and young infants and often requires surgical correction.

What Is Hirschsprung Disease?
Normally, the colon uses coordinated muscle contractions to push stool along. In Hirschsprung disease, the absence of nerve cells in the affected segment means that part of the colon cannot relax, leading to a blockage.

Typical Signs and Symptoms

• Newborn fails to pass meconium within 48 hours
• Severe constipation or abdominal distension
• Vomiting (sometimes green or bilious)
• Poor feeding or growth
• In older children: chronic constipation and stool retention

How Is It Diagnosed?
Diagnosis may include:

• Abdominal X-ray and contrast enema
• Rectal biopsy: the definitive test to check for missing nerve cells
• Anorectal manometry: sometimes used in older infants or children

Treatment Options
Surgical treatment is necessary and typically involves:

• Pull-through surgery: The diseased segment of the colon is removed, and the healthy portion is connected to the anus.
• In some cases, a temporary colostomy may be performed before definitive surgery.

Prognosis
Most children do well after surgery, but some may continue to have issues like constipation, enterocolitis, or soiling. Ongoing follow-up with a pediatric surgeon is important.

When to See a Specialist
If a child has persistent constipation, abdominal distension, or failure to thrive, consult a pediatrician or pediatric surgeon. Early diagnosis improves outcomes.