Hirschsprung’s Disease – Definition

Hirschsprung’s Disease – a congenital anomaly, also called congenital megacolon, in which the nerves that supply the lower colon, typically the sigmoid colon and rectum, are missing.

Nerves to the anus and anal sphincter are generally intact. The absence of nerves maintains the muscular wall of the lower colon in a state of perpetual contraction, bringing peristalsis to a halt and causing digestive waste to accumulate.

These events create pressure in the preceding segments of the colon, causing it to greatly dilate (megacolon). Untreated, this dilation results in toxic megacolon, a massive dilation of the colon. Toxic megacolon is a life-threatening emergency that requires immediate surgery.

Symptoms of Hirschsprung’s Disease

Symptoms include failure to pass meconium (a newborn’s first stool) within 48 hours of birth and abdominal distention. Hirschsprung’s disease that involves only a short segment of the colon may remain undetected into childhood and even early adulthood, producing primarily symptoms of chronic constipation and intermittent abdominal distress.

The diagnostic path may include digital rectal examination (dre), abdominal x-rays, ultrasound, or barium enema. Biopsy of the rectal wall confirms the absence of nerve ganglia.

Hirschsprung’s Disease Treatment

Treatment is surgery to remove the defective segments of bowel, connecting the ends of healthy bowel to maintain the integrity of the lower intestinal tract. The surgery restores normal bowel motility and function, allowing normal bowel movements.

Sometimes the surgery takes place in two operations, the first to remove the defective bowel and the second to reconstruct the colon. A temporary colostomy allows digestive waste to leave the body during the interim healing phase.

Most infants who undergo surgical repair before toxic megacolon develops heal completely and without residual complications. Hirschsprung’s disease often coexists with other congenital anomalies, notably down syndrome.


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