Dr Lalit Verma
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Hirschsprung’s Disease

What is Hirschsprung’s disease?

Hirschsprung's disease occurs in 1 out of every 5,000 live births.

Hirschsprung’s disease is a serious birth defect where nerve cells are completely missing from the end of the bowel. Important functions of the enteric nervous system include controlled movement of food from the beginning to the end of the bowel. Normally, the esophagus, stomach, small intestine and colon have about 500 million nerve cells (i.e. neurons) that control almost everything the gut does. These nerves and their supporting glia are called the enteric nervous system (ENS), a system complex enough that it is sometimes referred to as “the second brain”. Most children with Hirschsprung’s disease (i.e about 80 percent) are missing enteric neurons from just a few inches at the end of the colon. Some children with Hirschsprung’s disease, however, are missing enteric neurons from the entire colon, or the entire colon and part of the small bowel. The region of the bowel missing enteric neurons tends to stay contracted and does not let stool or air pass through easily causing partial functional obstruction. Food then gets trapped in regions of the bowel closer to the mouth that contain enteric neurons. This leads to many different symptoms.

Hirschsprung’s disease symptoms are

  1. Neonatal bowel obstruction:  About 75 percent of children with Hirschsprung disease have symptoms of abdominal distension, and about 25 percent have bilious vomiting.
  2. Delayed passage of meconium:  Children who do not pass meconium for more than 48 hours after birth are at moderate risk for having Hirschsprung disease (approximately 5 – 20 percent) and should be evaluated by a health care professional for this disorder.
  3.  Neonatal bloody diarrhea: Children with Hirscshprung’s disease are at high risk for a type of bowel inflammation called “Hirschsprung disease associated enterocolitis.” This life-threatening medical problem causes diarrhea that is often bloody and accompanied by abdominal distension and fever..
  4. Severe” chronic constipation:  Symptoms that should raise concern include constipation that does not respond to oral medicine, especially if problems begin within the first few months of life, and constipation A physician will examine your child and obtain a medical history. Other tests may be done to evaluate whether your child has Hirschsprung disease. These tests may include:
  • Rectal biopsy: This is the only definitive test for Hirschsprung disease. For this test, a very small piece (1-2 mm) of the rectal lining is obtained using a small instrument passed through the anal opening.
  • Barium enema: For this test, a fluid called barium (a chalky liquid used to coat the inside of the bowel so that they will show up on an X-ray) is given into the rectum as an enema. Barium enema may appear normal in about 10 percent of children with Hirschsprung’s disease and is less reliable in infants than in older children.
  • Anorectal manometry: This test measures nerve reflexes which are missing in Hirschsprung’s disease.