Hirschsprung’s disease (HD) is a congenital birth defect characterized by the absence of specific nerve cells — called ganglion cells — in a segment of the lower bowel.

Starting at the anus and extending upward, this aganglionic segment lacks the enteric nerves required for natural, rhythmic muscle contractions. The affected portion remains chronically contracted and functionally paralyzed, creating a severe mechanical obstruction.

Because the distal (lower) bowel is tightly contracted, the healthy proximal (upper) bowel stretches as it fills with trapped stool, creating a megacolon.

The gold standard. A small tissue sample from the narrowed distal segment is examined for presence or absence of ganglion cells.

Measures pressure changes in the rectum with a small balloon to see if the internal anal sphincter relaxes normally.

X-ray with contrast dye to map the transition zone between the narrowed diseased lower bowel and the enlarged upper bowel.

Definitive treatment requires surgery to bypass or remove the paralyzed section of bowel.

Most children thrive after pull-through surgery, but roughly 15% face ongoing challenges with bowel control or persistent constipation.

High-fiber diet, increased fluids, and specialized laxatives for chronic constipation.

Minor procedure that may be considered if aganglionic tissue was limited to a very short segment of the lower rectum.

For severe lack of control: a small tube is placed through the abdominal wall into the appendix or colon for daily anterograde continence enemas. Can be managed by children as young as 6 to support independence and cleanliness.