Hirschsprung disease, also known as Hirschsprung's or congenital aganglionic megacolon, is a rare medical condition characterized by the absence or underdevelopment of nerve cells, particularly ganglion cells, in the lower part of the large intestine, called the colon. The absence of these nerve cells disrupts the normal muscular contractions that propel stool through the intestine, leading to a blockage and subsequent accumulation of stool in the affected segment.
The condition is typically present from birth, although symptoms may not become apparent until shortly after birth or in early childhood. Some common signs and symptoms of Hirschsprung disease include chronic constipation, distended abdomen, failure to pass meconium shortly after birth, poor appetite, slow growth, and vomiting. In severe cases, the intestine may become enlarged (megacolon), causing abdominal pain and further complications.
Hirschsprung disease is believed to result from a combination of genetic and environmental factors. While the exact cause is not fully understood, mutations in certain genes have been associated with the disorder. The condition may occur in isolation or as part of certain genetic syndromes.
Diagnosis is typically achieved through various tests such as rectal biopsy, anorectal manometry, and contrast enema. Treatment usually involves surgery to remove the segment of the colon lacking ganglion cells and reconnect the healthy segments. In some cases, a temporary colostomy may be necessary to relieve the obstruction before the definitive surgery.
Early diagnosis and intervention are crucial for managing Hirschsprung disease effectively and preventing complications such as enterocolitis (inflammation of the intestine) or intestinal perforation. With appropriate treatment, individuals with Hirschsprung disease can experience significant improvement in their symptoms and lead normal lives.
