What is Hirschsprung Disease

Hirschsprung Disease is a rare congenital condition that affects the large intestine (colon) and causes problems with bowel movements. It occurs when certain nerve cells, called ganglion cells, are missing from parts of the colon. These cells are responsible for coordinating the muscle contractions that propel stool through the intestines.

Infants with Hirschsprung Disease typically experience difficulty passing stool, leading to chronic constipation or intestinal blockage. Symptoms may include a swollen abdomen, vomiting, poor appetite, and delayed growth. In some cases, complications like enterocolitis (inflammation of the intestines) can arise, which can be life-threatening.

Diagnosis of Hirschsprung Disease involves various tests, such as rectal biopsy, transit studies, and imaging scans, to evaluate the functionality and structure of the colon. Early detection is crucial to prevent complications and initiate appropriate treatment.

Treatment for Hirschsprung Disease typically involves surgery to remove the affected portion of the colon and connect the healthy parts. This procedure, called a pull-through or resection, allows for normal bowel function. In some cases, a temporary colostomy may be necessary before the definitive surgery.

With proper medical management, individuals with Hirschsprung Disease can lead healthy lives. Regular follow-up care and monitoring are essential to ensure optimal bowel function and address any potential complications.