Hirschsprung Disease

Hirschsprung disease is congenital, which means a child is born with it. Certain forms of the disease can be passed from parent to child in the genes. But it’s not common for more than one family member to have it.

Healthy intestines squeeze with a wave-like motion to move stool along the digestive tract. Special nerve cells (ganglion cells) help the intestines make this motion. In children with Hirschsprung disease, these nerve cells are missing. Most often, ganglion cells are missing from the end of the large intestine (colon) or the rectum, where stool collects before leaving the body through the anus. In very rare cases, ganglion cells may be missing from part of the small intestine too.

Hirschsprung disease is a problem in the intestines that keeps stool (feces) from moving forward.  Where ganglion cells are missing, the intestine squeezes shut, and stool stops moving. Your child can have ongoing constipation, or their intestines can get blocked completely (obstructed).

Hirschsprung disease increases your child’s risk for an infection in the colon called enterocolitis. The infection can be very serious. Enterocolitis can be treated, but it can threaten your child’s life if it is not treated the right way.

Care for Hirschsprung disease requires expertise to diagnose the condition, perform delicate surgery and keep your child healthy for life. Each child’s case is unique. Our pediatric team will partner closely with you to develop the best treatment plan for your child. To request an appointment, call the Patient Referral Center at 916-453-2191.

Symptoms of Hirschsprung Disease

If your baby has Hirschsprung disease, they may have one or more of these symptoms just after birth:

  • No stool passed within the first day or two after birth
  • Swollen belly (abdomen) from gas
  • Vomiting, which may be yellow or greenish

Babies with an infection in the large intestine (enterocolitis) may become very ill. They may be very sleepy or not very active, and may have some or all of these symptoms:

  • Fever
  • Swollen belly
  • Watery or bloody diarrhea

Older babies and children with Hirschsprung disease may have problems with constipation that do not improve much after using routine treatments. Soft or loose stool may leak around hard stool that is trapped in the colon, soiling your child’s diaper or underwear (fecal incontinence). It may seem like diarrhea, but it has more to do with being constipated.

Older children may have:

  • Diarrhea
  • A lack of red blood cells, called anemia, because blood is lost in their stool
  • Slower physical growth and development than usual

Hirschsprung Disease Diagnosis

If your child has symptoms of Hirschsprung disease, the doctor will take X-rays to see what the intestines look like. Your child may need:

  • A regular X-ray
  • A contrast enema

Doctors may need to take a small sample of tissue from the rectum to confirm if your child has Hirschsprung disease. This is called a rectal biopsy. They look at the tissue sample under a microscope to see if it has ganglion cells.

Sometimes doctors also use a test called anorectal manometry. During this test, the doctor inflates a small balloon inside the rectum that senses how well the nerves and muscles work.

Treatment options for Hirschsprung disease

Surgery may improve your child’s bowel movements or even make their bowel movements normal. But it doesn’t cure Hirschsprung disease, and most children will have some bowel problems off and on. Shriners Hospitals for Children-Northern California provides follow-up care to monitor your child’s health, anticipate problems, manage symptoms and give your child a better quality of life.

For children with Hirschsprung, issues like constipation are not treated the same as for children without this condition. This is why it’s important to get long-term care from a team of experts dedicated to giving your child the best possible care.

Bowel Management Program

Our Bowel Management program is an outpatient clinic to help children and teens control their bowels without having accidents or needing to wear a diaper,

“We want patients and their families to know that there is hope and that they are not alone,” said Shinjiro Hirose, M.D. Director, Pediatric Surgery

After Surgery

After surgery for Hirschsprung disease, we will give your child pain medicine to make them comfortable. It’s likely they will also have:

An IV (intravenous) line that goes into a vein to provide fluids.

A tube that passes through the nose into the stomach (nasogastric tube, or NG tube). This keeps their stomach empty until gas and stool can pass through the intestines.

You can expect your child to be in the hospital for three to five days after surgery. Your child will stay in the hospital until they can eat well, they have a bowel movement and they have no fever or other signs of problems. Some children need to stay longer, based on their health and the extent of their surgery.

The surgery team will teach you what to do when your child goes home, such as how to care for incisions, how to feed and bathe your child, whether to limit your child’s activity for a while and what to watch for.

Ongoing Care

After healing from surgery, your child’s bowel movements may become normal. But surgery doesn’t cure Hirschsprung disease. Some children will have bowel problems — like constipation or fecal incontinence (“accidents”) — off and on throughout their lives. Ongoing care from an expert team can help with these problems.

Follow-Up Visits

The team at Shriners Hospitals for Children-Northern California works to monitor and treat problems related to Hirschsprung disease in babies, children, teens and young adults even after surgery. Our goal is to follow your child until they reach college age to help ensure they are healthy and living to their full potential.

Your child will need to come back for follow-up visits on a regular basis to check their health. If your child is doing well, these visits may happen only once a year. If your child is having any bowel problems, we may see them more often to provide treatment.

Patient Referral

916-453-2191
916-453-2111 (Emergency Referral)
916-453-2395 (fax)
referrals.ncal@shrinenet.org

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