Hirschsprung's Disease

Hirschsprung's Disease is a rare congenital (present at birth) abnormality that results in obstruction because the intestines do not work normally. Hirschsprung's Disease is caused by the absence of nerve cells in the wall of the bowel. Collections of nerve cells, called ganglia, control the coordinated relaxation of the bowel wall that is necessary for bowel contents to advance. More recently, advances in surgical technique, including minimally invasive procedures, and earlier diagnosis have resulted in decreased morbidity and mortality for patients with Hirschsprung disease. In order for this movement to occur, special nerve cells called ganglion cells are required. When we eat, nerve cells that are present in the wall of the intestines receive signals from the brain telling the intestinal muscles to move food forward. In children with Hirschsprung's disease, a lack of nerve cells in part of the intestine interrupts the signal from the brain and prevents peristalsis in that segment of the intestine Other infants show a more insidious disease course, which may include constipation or diarrhea, anemia (low counts of red blood cells), and growth delay. Other children develop chronic constipation and abdominal distention, but do not become acutely ill. Severe worsening of the obstruction can lead to a hole in the bowel (perforation) and severe infection. This research also suggested that a single gene was responsible for the disorder. However, the researchers were unable to isolate the single gene that they thought caused Hirschsprung's

This disease is named for Harald Hirschsprung , the Danish physician who first described the disease in 1886 , describing two infants who had died with swollen bellies. In order for this movement to occur, special nerve cells called ganglion cells are required. Because these nerve cells are missing in children with Hirschsprung's disease, normal peristaltic movement cannot occur. The usual treatment is "pull-through" surgery where the portion of the colon that does have nerve cells is pulled through and sewn over the part that lacks nerve cells (National Digestive Diseases Information Clearinghouse). The inadequate motility is a result of an aganglionic (without nerve tissue) section of the intestines resulting in megacolon (dilated section of colon). For a long time, Hirschsprung's was considered a multi-factorial disorder, where a combination of nature and nurture were considered to be the cause (Madsen 19). This is important because Hirschsprung's disease can place a child at increased risk for the development of enterocolitis, infection, and perforation (rupture) of the intestine. The disease may also be hereditary, which means a parent can pass it to a child. Hirschsprung's disease affects mainly infants and children.

Causes of Hirschsprung's Disease

The common causes of Hirschsprung's Disease :-

• Mutations in the Ret proto-oncogene have recently been associated with multiple endocrine neoplasia (MEN) 2A or MEN 2B and familial Hirschsprung disease.
• Other genes associated with Hirschsprung disease include the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene.
• If the condition is severe, the newborn may fail to pass meconium or stool, and the newborn may vomit.
• specific diseases or conditions, such as stroke (most common)
• However, in children with Hirschsprung's disease, the colon stays contracted, and bowel contents build up before the obstruction.
• Hirschsprung's disease causes one fourth of all newborn intestinal obstruction , but the condition may not be detected until later in infancy or childhood.
• Other associations include Waardenburg syndrome, congenital deafness, malrotation, gastric diverticulum, and intestinal atresia.

Symptoms of Hirschsprung's Disease

Some are common symptoms of Hirschsprung's Disease :-

• Failure to pass meconium shortly after birth
• Abdominal distention
• A swollen abdomen, which may cause the baby to breathe fast and grunt when breathing.
• The newborn does not have regular bowel movements.
• As a result, babies with Hirschsprung's Disease can't have bowel movements on their own and have severe
• Failure to pass a first stool within 24 - 48 hours after birth
• Watery diarrhea (in the newborn)
• Gradual marked swelling of the

Treatment of Hirschsprung's Disease

• Nasogastric decompression, intravenous fluids, antibiotics, and colonic lavage may also need to be used in postoperative patients who develop enterocolitis as a complication.
• Management of complications of recognized aganglionosis is directed toward reestablishing normal fluid and electrolyte balance, preventing bowel overdistension (with possible perforation), and managing complications such as sepsis.
• However, it is frequently performed as a two-staged procedure with a colostomy being performed at the time of diagnosis, and a definitive procedure being performed later in the first year of life.
• After a few weeks or months, the colostomy is closed in a second surgery, and healthy intestine is reattached.
• the affected area of the colon is removed. Then the healthy colon is brought down to the rectum and joined to the rectal wall.
• the colostomy opening is closed, and bowel function gradually returns to normal.

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