Hirschsprung Disease

What is Hirschsprung Disease

Hirschsprung disease is a rare condition in which nerve cells that control squeezing movements (contractions) are missing from part of the large intestine (colon).

The colon absorbs fluids and holds stool so that it can be passed out of the body with contractions. In Hirschsprung disease, the colon has trouble moving stool out through the rectum. This leads to constipation.

Hirschsprungs disease is a condition of distal aganglionic bowel that results from the lack of Auerbach (intermuscular) and Meissner (submucosal) plexuses. Functional obstruction of the distal bowel results.

Hirschsprung’s disease usually manifests within the first 48 hours of life as failure to pass meconium, or it may manifest with abdominal distention, bilious vomiting, or diarrhea.

More than 80% of patients present within the first 6 weeks of life.

This condition is most commonly diagnosed at birth or shortly after.

What are the causes?

The cause of this condition is not known, but it may be related to changes (mutations) in genes. It may run in families or be passed from parent to child (inherited) through genes.

In children who have the disease, it is present from birth (congenital). It happens when nerve cells in the colon stop growing while the colon is developing before birth.

What are the symptoms?

Signs and symptoms in infants may include:

• Not having a bowel movement within two days after birth. This is one of the most common signs.
• Vomiting.
• Swelling of the abdomen (abdominal distension).
• Diarrhea.

In mild cases, the disease may not be noticed until later in childhood. Signs and symptoms in older children may include:

• Constipation.
• Abdominal distension.
• Lots of gas.
• Small, watery stools.
• Bloody diarrhea.
• Poor appetite.
• Failure to grow and gain weight.
• Lack of energy.

How is this diagnosed?

This condition is diagnosed based on:

• Your child’s symptoms.
• A physical exam.
• An X-ray of:
  • Your child’s colon after dye has been put into the colon (barium enema).
  • Your child’s abdomen.

What are the X ray findings of Hirschsprungs disease?

The most typical radiographic finding of Hirschsprung’s disease is a dilated colon proximal (upstream) to the distal more diminutive aganglionic segment.

Radiographs may also demonstrate high-grade distal bowel obstruction.

Radiologic diagnosis of Hirschsprung’s disease requires a contrast enema (water-soluble contrast in almost all circumstances).

Spot radiographs are obtained in the frontal, lateral, and oblique projections.

The contrast enema may show the transition zone, which is situated between a narrowed distal aganglionic segment and the distended proximal bowel.

The radiographic transition zone may be visualized more distally than the histologic transition zone secondary to stool dilating the proximal part of the aganglionic segment.

Is Hirschsprungs disease diagnosed definitively by imaging?

To make a definitive diagnosis of Hirschsprung’s disease, a rectal (suction) biopsy specimen must demonstrate a lack of ganglion cells. The specificity and sensitivity of a contrast enema for diagnosis are about 70% and 80%, respectively.

• Removal of a colon tissue sample to be examined under a microscope (biopsy).
• Measuring pressure in the rectum by inserting a balloon and inflating it (anal manometry).

This condition cannot be diagnosed before birth.

How is this treated?

This condition is treated with surgery to remove the part of the colon that is missing nerve cells (pull-through procedure). In this procedure, the abnormal part of the colon is removed and the healthy end is pulled through and attached to the rectum.

The pull-through procedure may be done in stages. If your child is too weak or sick to have the full procedure, a temporary surgery called an ostomy may be done. During an ostomy:

• The abnormal part of the colon is removed and the healthy end is attached to an opening (stoma) in the abdomen. Sometimes the entire colon has to be removed.
• Stool will come through the stoma in the abdomen and collect in a pouch.
• When your child is ready, the opening may be closed and the pull-through procedure completed. Sometimes, the ostomy is permanent and the pull-through procedure is not done.

Other supportive treatments include:

• Antibiotic medicines, if there is also infection.
• Fluids through an IV tube to prevent dehydration. The IV tube is inserted into a vein.
• Inserting a tube through the nose and down into the stomach (nasogastric tube, or NG tube). This removes stomach contents and air and can help to treat a blockage in the intestine.
• Nutrition. This may be given through an IV tube.

Follow these instructions at home:

• Give medicines as directed. Give over-the-counter and prescription medicines only as told by your child’s health care provider.
• If your child was prescribed an antibiotic, give it as told by your child’s health care provider. Do not stop giving the antibiotic even if your child starts to feel better.
• Make sure that your child drinks enough fluid to keep his or her urine clear or pale yellow. This helps to prevent dehydration.
• If your child is dehydrated, ask your child’s health care provider for rehydration instructions. Signs of dehydration include:
  • Dry lips and mouth.
  • Thirst.
  • Dark urine.
• Keep all follow-up visits as told by your child’s health care provider. This is important.

Get help right away if:

• Your child has not had a bowel movement in 48 hours after birth.
• Your child seems to be in pain and has a tender or swollen belly.
• Your child has bloating in the abdomen, vomiting, or constipation.
• Your child has a fever.
• You notice signs of dehydration such as:
  • No urine in 8–12 hours for a child, and no wet diapers in 5–6 hours for an infant.
  • Dry mouth.
  • Sunken eyes.
  • Weakness.
  • Sleepiness.
• Your child has difficulty breathing.
• Your child’s skin feels cold and clammy.

Summary

• Hirschsprung disease is a rare condition in which nerve cells that control squeezing movements (contractions) are missing from part of the large intestine (colon).
• The cause of this condition is not known.
• This condition is treated with surgery to remove the part of the colon that is missing nerve cells (pull-through procedure).