Hirschsprung Disease Specialists in A F Rajokari, Delhi

What is Hirschsprung Disease?

Hirschsprung disease is a congenital condition in which nerve cells that normally control the muscle contractions needed to move stool through the intestine are missing from the end portion of the large intestine, causing that segment to remain persistently tight and unable to relax. This leads to a functional blockage, as stool cannot pass normally through the affected segment, causing it to back up and the bowel above it to become distended. It typically becomes apparent in the newborn period, most notably through a failure to pass the first stool within the expected timeframe after birth, and requires surgical treatment.

Causes of Hirschsprung Disease

Results from a failure of specialized nerve cells to migrate fully into the developing intestine during fetal development, leaving a segment of bowel, most commonly at the end of the large intestine, without the nerve cells needed to coordinate normal muscle relaxation and stool movement. It has a notable genetic component, with a family history increasing risk, and is more common in children with certain genetic conditions such as Down syndrome. The exact combination of genetic factors involved varies between affected individuals.

Symptoms of Hirschsprung Disease

Failure to pass the first stool (meconium) within 48 hours of birth, abdominal swelling and distension, vomiting, particularly if bile-stained, chronic constipation from birth, poor feeding and weight gain, in older children who go undiagnosed as infants, severe chronic constipation with an enlarged abdomen, fever and signs of infection if a serious complication called enterocolitis develops

Treatment & Types of Hirschsprung Disease in A F Rajokari, Delhi

Surgical treatment, known as a pull-through procedure, removes the affected segment of bowel lacking normal nerve cells and connects the healthy bowel directly to the anus, typically restoring normal bowel function. Before definitive surgery, some infants require an initial procedure to create a temporary stoma to relieve the obstruction and allow the bowel to decompress. Long-term follow-up is important, as some children experience ongoing bowel management challenges or are at risk for complications such as enterocolitis even after successful surgery.

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