What is Hirschsprung’s Disease?

Hirschsprung’s disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the gut (enteric nerves) do not form properly during development (embryonic development) before birth. This condition is usually identified in the first two months of life, but less severe cases may be diagnosed later in childhood.

What is Hirschsprung’s disease?

Hirschsprung’s disease is a birth defect in which nerve cells are missing at the end of the intestine. Normally, the gut contains many nerve cells along its entire length that control how the gut works. Intestinal nerve cells do not work well when they are deficient. Since stool does not normally pass through the intestine, this damage causes blockages in the intestine ( intestinal obstruction ).

Most often, the areas where nerve cells are missing are the rectum and sigmoid colon. However, some children are missing a nerve cell for the entire colon or part of the small intestine.

  • In short segment Hirschsprung disease, nerve cells are missing in the last part of the large intestine.
  • In long segment Hirschsprung disease, nerve cells are missing in most or all of the large intestine, and sometimes in the last part of the small intestine.
  • Rarely, nerve cells are missing in the entire large and small intestine.

In a child born with this birth defect, stool moves through the intestine until it reaches the part without nerve cells. At this point, the stool moves slowly or stops.

What is the intestine, large intestine, colon, rectum, and anus?

The intestine consists of the small and large intestines. The large intestine, which includes the colon and rectum, is the last part of the gastrointestinal tract. The main job of the large intestine is to absorb water and retain stool. The rectum connects the colon to the anus. Stool comes out of the body through the anus. At birth, the large intestine is about 60 cm long. The large intestine of an adult is about 150 cm long.

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What causes Hirschsprung’s disease?

During the baby’s early development in the mother’s womb, nerve cells stop growing towards the end of the child’s intestine, causing this birth defect. Most of these cells start at the beginning of the intestine and grow towards the end. Hirschsprung’s disease occurs when these cells do not reach the end of a child’s intestine. Scientists know that genetic defects can increase a child’s risk of developing this disease. However, there are no tests that can diagnose a child while the mother is pregnant. Researchers are investigating whether the mother’s health history or lifestyle during pregnancy increases her baby’s risk of developing Hirschsprung’s disease.

Who is at risk?

Hirschsprung’s disease occurs in about one in 5,000 newborn babies. Children with Down syndrome and other medical problems such as congenital heart defects are at much greater risk. For example, one in every 100 children with Down syndrome also has Hirschsprung’s disease.

Hirschsprung’s disease is congenital or present at birth; however, symptoms may or may not be evident at birth. If you have a child born with this birth defect, you have a higher risk of having more children with the same disease than other people. Also, if one parent has Hirschsprung’s disease, their child is more likely to have the same disease. You can talk to your doctor for more information.

What are the symptoms of Hirschsprung’s disease?

The main symptoms of Hirschsprung’s disease are constipation or intestinal obstruction , which usually occurs shortly after birth . Many healthy babies and children have trouble passing stools. However, unlike healthy children and infants, children with this birth defect often do not respond to oral constipation medications. Most often, an infant or child with Hirschsprung’s disease will experience:

  • lack of growth
  • abdominal swelling
  • unexplained fever
  • Vomiting

Symptoms can vary; however, how they change does not depend on how much of the gut nerve cell is missing. If nerve cells are missing wherever they are in the gut, when stool reaches that area, a blockage occurs and the child develops symptoms.

Symptoms in newborn babies

An early symptom in some newborn babies is not having the first stool movement within 48 hours of birth. Other symptoms include:

  • green or brown vomit
  • Stool after the doctor inserts and removes the finger into the baby’s rectum
  • abdominal swelling
  • Normal or bloody diarrhea

Symptoms in toddlers and older children

Symptoms of Hirschsprung disease in young children and older children may include:

  • Pooping without an enema or suppository (an enema involves pouring liquid into the child’s anus using a special wash bottle. A suppository is a pill that is inserted into the child’s rectum.)
  • abdominal swelling
  • often bloody diarrhea
  • growth problems
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How is Hirschsprung’s disease diagnosed?

A doctor will diagnose whether your child has this birth defect based on:

  • physical examination
  • Medical and family health history
  • symptoms
  • Test results

If your doctor suspects Hirschsprung’s disease, they may refer your child to a pediatric gastroenterologist (a doctor who specializes in digestive diseases in children) for additional evaluation.

physical examination

During the physical exam, the doctor usually:

  • Examines your child’s height and weight
  • Examines your child’s tummy for swelling and examines his body for signs of poor feeding
  • Uses a stethoscope to listen for sounds in the abdomen
  • Touches certain parts of your child’s body
  • Performs rectal examination

Medical and family health history

A doctor will ask you to provide your child’s medical and family health history to help diagnose Hirschsprung’s disease. The doctor will ask questions about your child’s bowel movements. The doctor will also ask about vomiting, abdominal swelling, and unexplained fever. If problems with bowel movements begin after age 1, the doctor is less likely to diagnose Hirschsprung’s disease.

medical tests

A doctor who suspects this birth defect will do one or more of the following tests:

  • Rectal biopsy: A rectal biopsy is a procedure that involves taking a small piece of tissue from the rectum for examination with a microscope.
  • Abdominal X-ray: An X- ray is an image created using radiation and saved on film or computer.
  • Anorectal manometry: Anorectal manometry is a test that uses pressure sensors and balloons to measure how well a child’s rectum is working.

How is Hirschsprung’s disease treated?

Hirschsprung’s disease is a life-threatening disease and treatment requires surgery. Children who have had surgery for this birth defect often feel better after surgery. If growth is slow due to Hirschsprung’s disease, growth usually improves after surgery.

For treatment, the pediatric surgeon will perform a pulling procedure or ostomy surgery. During either procedure, the surgeon may remove all or part of the colon, called a colectomy.

Pull-in procedure

During a pulling procedure, the surgeon removes the missing part of the nerve cells of the large intestine and connects the healthy part to the anus. The surgeon often performs a pulling procedure soon after diagnosis.

ostomy surgery

Ostomy surgery is a surgical procedure that reroutes the normal movement of stool through the body when part of the intestine is removed. Creating an ostomy means passing part of the intestine through the abdominal wall so that stool can leave the body without passing through the anus. The abdominal opening through which stool leaves the body is called a stoma.

A removable external collection bag, called an ostomy bag or ostomy device, is attached to the stoma and worn on the outside of the body to collect stool. The person caring for the child will need to empty the pouch several times each day.

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Although most children with Hirschsprung disease do not need ostomy surgery, a child affected by Hirschsprung disease may need ostomy surgery to heal before undergoing a pulling procedure. This gives the inflamed areas of the gut time to heal. In most cases, an ostomy is temporary and the child will have a second surgery to close the ostomy and reattach the bowel. However, sometimes children with Hirschsprung’s disease may have a permanent ostomy, especially if a long section of the intestine lacks nerve cells or if they have recurrent episodes of intestinal inflammation called enterocolitis.

Ostomy surgeries include:

  • An ileostomy surgery is when the surgeon connects the small intestine to the stoma.
  • Colostomy surgery is when the surgeon connects part of the large intestine to the stoma.

Eating, diet and nutrition

If a child has surgery, the child needs to drink more fluids to compensate for dehydration and prevent dehydration. In addition, these children need twice as much salt as a healthy child. A doctor can measure the amount of sodium in a child’s urine and adjust his diet to ensure adequate salt exchange.

Some babies may need a feeding tube for a while. The feeding tube is a passageway for the baby to get infant formula or liquid food into his stomach or small intestine. The doctor will pass the feeding tube through the nose. In some cases, the doctor will recommend a more permanent feeding tube, which they surgically place in the child’s abdomen.

In summary

  • Hirschsprung’s disease is a birth defect in which nerve cells are missing at the end of a child’s intestine.
  • In a child with Hirschsprung’s disease, stool moves through the intestine until it reaches the part without nerve cells. At this point, the stool moves slowly or stops.
  • During the baby’s early development in the mother’s womb, nerve cells stop growing towards the end of a child’s intestine, and this causes Hirschsprung’s disease.
  • Hirschsprung’s disease occurs in about one in 5,000 newborn babies. Children with Down syndrome and other medical problems such as congenital heart defects are at much greater risk.
  • The main symptoms of Hirschsprung’s disease are constipation or intestinal obstruction, which usually occurs shortly after birth. Oftentimes, an infant or child will have other symptoms such as growth failure, bloating, unexplained fever, or vomiting.
  • The doctor will know if your child has Hirschsprung’s disease based on a physical exam, medical history, family health history, symptoms, and test results.
  • Hirschsprung’s disease is a life-threatening disease and treatment requires surgery. Children who have had surgery usually feel better after surgery. If growth is slow due to disease, growth will usually improve after surgery.

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