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What is Hirschsprung's Disease (HSCR)?

Helen Athanasakos

Hirschsprung's Disease was named after Harold Hirschsprung (1830-1916), a physician from Copenhagen who described the disease that we now know as Hirschsprung's disease, in 1886 at a Paediatric Conference in Berlin. However, the understanding of HSCR today can't be only credited to Harold Hirschsprung but a group of many observant surgeons, physicians and scientists in the medical profession.

Hirschsprung's (HURSH-sprungz) disease is a condition of the large intestine, which is sometimes called 'congenital megacolon' or 'congenital intestinal aganglionosis'. This condition is much more common in boys than girls and occurs in 1 out of every 5000 live births. The majority of patients with HSCR are born at normal weight, although 7% of those with HSCR are born prematurely 2.

What is the cause of HSCR?

Basically, muscles of the intestine push stool to the anus where stool leaves the body. Special nerve cells in the intestine, called ganglion cells grow in the baby's intestine soon after the baby begins to grow in the womb, which make the muscles of the intestine to push (Figure 2). During digestion, intestinal muscles move food forward in a movement called peristalsis. In order for this movement to occur, these ganglion cells are needed to help the intestine relax. Because these nerve cells are missing (this is called aganglionosis) in children with HSCR (Figure 2), normal peristaltic movement cannot occur. In children with HSCR, the intestine is constantly squeezed tight, preventing stool from passing. With HSCR, ganglion cells stop growing before they reach the end of the intestine. In a person with HSCR, the healthy muscles of the intestine push the stool until it reaches the part without the ganglion cells. At this point, the stool stops moving. New stool then begins to stack up behind it, causing either partial or complete intestinal obstruction.

In some children with HSCR the ganglion cells are missing from the whole large intestine (this is called 'total colonic aganglionosis' or 'long-segment') and even parts of the small intestine called 'total intestinal aganglionosis'. The incidence of total colonic aganglionosis ranges from 2% to 14% among all forms of intestinal aganglionosis. When the diseased section includes only part of the large intestine, it is called 'short-segment aganglionosis' or 'transitional colonic aganglionosis'. This is the most common length of aganglionosis found in children with HSCR.

Figure 2: Normal colon with ganglion cells (A) and HSCR colon (B)

+ = ganglion cells
= no ganglion cells

Normal colon with ganglion cells (A)
HSCR colon (B)

What are the signs or symptoms for HSCR?

Symptoms of HSCR usually show up during the first weeks of life. Newborns with HSCR don't have their first bowel movements when they should. This simply means that they lack to pass meconium within the first 24-48 hours. These babies may also vomit a green liquid called 'bile' after eating and their abdomens may become 'distended' or 'swell'. Discomfort from gas or constipation might make them distressed. They also may present with poor feeding. Sometimes, babies with HSCR develop infections in their intestines. Some infants may have normal health for several months or years in response to changes of feed (breast-feeding), laxatives, suppositories or enemas and can delay diagnosis into later childhood. In this case, older children with HSCR usually present with chronic constipation while others may have more diarrhoea than usual. Children with HSCR might also have anaemia, a shortage of red blood cells, because blood is lost in the stool.

What is the cause of HSCR?

How is HSCR diagnosed?

Careful physical examination is required, and physical findings are dependent upon the age at presentation and the severity of the condition. Establishing the diagnosis also includes undergoing a number of medical tests. To find out if a person has HSCR, the doctor will do some of these tests:

  • Abdominal X-ray: An x-ray is a black-and-white picture of the inside of the body. This test may indicate a bowel blockage.
  • Barium Enema: The doctor puts 'barium (a chalky liquid) through the anus into the intestine before taking the picture. Barium is a liquid that coats the inside of organs in order to make the intestine show up better on the x-ray. In places where the nerve cells are missing, the intestine looks too narrow.
  • Manometry: This determines whether normal reflexes involving the rectum and the anus are present. Used only in older children, the test is non-invasive and can be performed at the bedside. The doctor inflates a small balloon inside the rectum. Normally, the anal muscle will relax. If it doesn't, HSCR may be the problem.
  • Rectal Biopsy: This procedure is absolutely essential to finalise the diagnosis of HSCR. A sample of cells in the rectum is taken, and nerve cells are then looked for under a microscope. This is the most accurate test for HSCR. The doctor removes and looks at a tiny piece of the intestine under a microscope. If the nerve cells are missing, HSCR is the problem.

TAKE HOME MESSAGES

  • Hirschsprung's disease is much more common in boys than girls and occurs in 1 out of every 5000 live births.
  • The majority of patients with HSCR are born at normal weight, although 7% of those with HSCR are born prematurely.
  • Ganglion cells grow in the baby's intestine soon after the baby begins to grow in the womb, which make the muscles of the intestine to push. During digestion, intestinal muscles move food forward in a movement called 'peristalsis'.
  • Ganglion cells are missing in children with HSCR, thus normal peristaltic movement cannot occur. The intestine instead, is constantly squeezed tight, preventing stool from passing.
  • Symptoms for HSCR include the infant lacking to pass meconium within the first 24-48 hours, bile vomiting, distended abdomen and poor feeding.
  • In older children, chronic constipation along with relevant history is a clear sign of HSCR.
  • HSCR is diagnosed by using a number of techniques.
  • The most vital diagnostic tool is the rectal biopsy whereby a sample of cells in the rectum is taken and nerve cells are then looked for under a microscope.

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