Hirschsprung Disease

For patients & families
Hirschsprung disease is a condition present from birth where nerve cells (ganglion cells) that help the bowel relax and move stool are missing from the lower part of the intestine.[e4411-c1,e5023-c2,e5023-c3] The affected area always includes the rectum and ends just above the anus, and in most cases (about 85%) begins in the lower sigmoid colon or rectum.[e4411-c2,e4411-c3] About 10% of children have the entire colon affected. Most babies (90–95%) are diagnosed in the newborn period when they fail to pass their first stool (meconium) within 24–48 hours, followed by bloating and vomiting.[e4411-c5,e4411-c6,e4411-c7] Doctors confirm the diagnosis with a contrast enema that shows a narrow area where the bowel cannot relax, and then take a small tissue sample (biopsy) to check for the missing nerve cells.[e4411-c8,e4411-c9] Some children are diagnosed later if the condition is missed early; these children are often small for their age and have severe constipation.[e4411-c10,e4411-c11] Surgery removes the affected bowel and connects healthy bowel to the anus, preserving the natural sphincter muscles and sensation.[e5023-c32,e5023-c33] With proper surgery and management, the vast majority of children do extremely well, are able to empty normally, and have bowel control.[e310-c1,e5023-c46] About 80% need help managing constipation with medications. The most important complication to watch for is enterocolitis—a serious infection that causes fever, bloating, and vomiting—which requires urgent treatment with fluids, rectal washouts, and antibiotics.[e310-c22,e4407-c2,e5023-c40,e5023-c42,e5023-c43]