Hirschsprung Disease

Hirschsprung disease occurs when some of the nerve cells that are normally present in the wall of the
intestine do not form properly during fetal development.

During digestion, intestinal muscles move food forward in a movement called peristalsis. In order for
this movement to occur, special nerve cells called ganglion cells are required. Because these nerve cells
are missing in children with Hirschsprung disease, normal peristaltic movement cannot occur.

Consequently, stool backs up, causing either partial or complete bowel obstruction.

Eventually, a bacterial infection can develop in the digestive tract, causing serious problems. Severe
worsening of the obstruction can lead to a hole in the bowel (perforation) and severe infection.

All children with Hirschsprung disease require surgical treatment.

Incidence of Hirschsprung Disease

This condition occurs in 1 out of every 5,000 live births.

Risk Factors for Hirschsprung Disease

This condition occurs more frequently in boys than in girls, with as many as four boys affected for every
girl. Also, children with Down syndrome have a substantially higher risk of having Hirschsprung disease.

Some cases of Hirschsprung disease can be related to a genetic (inherited) cause. There is an increased
chance that a couple will have a child with Hirschsprung disease if one of the parents has the condition,
and the chance is higher if it is the mother who has the condition.

If a family has a child with Hirschsprung disease, there is a 3 percent to 12 percent chance that another
baby will also have it.
Hirschsprung Disease Symptoms
Eighty percent of children with Hirschsprung disease show symptoms in the first 6 weeks of life. Infants
suffering from the disease usually become symptomatic during the first 24 to 48 hours of life. However,
children with only a short segment of intestine that lacks normal nerve cells may not show symptoms for
several months or even years. While individuals experience a range of symptoms, the following are the
most common:

Not having a bowel movement in the first 48 hours of life

Gradual marked swelling of the abdomen

Gradual onset of vomiting

Fever

Children who do not have early symptoms may present with the following: Sepsis (overwhelming
infection)

Constipation that worsens over time

Small, watery stool

Loss of appetite

Delayed growth

Hirschsprung Disease Diagnosis

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 diagnostic studies. These include the following:

Abdominal X-ray. This may indicate a bowel blockage. This study only allows physicians to suspect the
diagnosis, not definitively diagnose it.

Contrast enema. This is a procedure performed to examine the large intestine (colon) for
abnormalities. A contrast agent is given into the rectum in order to coat the inside of organs so that they
will show up on an X-ray. This is the most valuable radiologic study for establishing the diagnosis.
An X-ray of the abdomen will show a narrowed colon, obstruction and dilated (exceptionally enlarged)
intestine above the obstruction.

Rectal biopsy. This procedure will establish the diagnosis of Hirschsprung disease. A sample of the cells
in the rectum is taken and then looked at under a microscope. Confirmation of Hirschsprung is based on
the absence of ganglion cells and the presence of nonmyelinated nerves in the biopsy segment.

In infants, a suction rectal biopsy can be done at the bedside. Since there are no sensory nerves at the
site of biopsy, this is not painful. When a suction biopsy is inconclusive, surgical biopsy is performed
under general anesthesia in the operating room.

Anorectal manometry. This determines whether normal reflexes involving the rectum and the anus are
present. Used only in older children, the test can be performed at the bedside.

Hirschsprung Disease Treatment & Surgery

In all cases of Hirschsprung disease, surgery is the definitive treatment. The segment of intestine
without the specialized nerves is removed. The segment of intestine that has been shown by biopsy to
be normal is then pulled down to the anus.

The trend is to perform this surgery without a protective colostomy during the neonatal period.
However, in many cases in which a child is ill from infections, has an obvious intestinal obstruction, has
other serious conditions or has a significantly enlarged bowel, a colostomy is required.

The colostomy is placed in the part of the intestine that functions normally and the child may eat and
grow. The operation to remove the abnormal segment of bowel is performed at a later date.

When there is an early diagnosis and when circumstances are favorable (such as otherwise good health
and lack of infection), the definitive surgical procedure can be performed in a single stage. This can be
done with a minimally invasive surgical technique, with laparoscopy, or sometimes entirely through the
anus with no scars at all. With proper surgical technique of preserving the sphincters and anal canal,
fecal continence should remain.
Long-Term Complications
The outcome for the typical disease is good. Enterocolitis can occur postoperatively but usually
disappears after the first year life.

Approximately 95 percent of patients eventually achieve excellent results, with normal bowel habits,
no soiling and infrequent constipation.

Five percent of patients report troublesome constipation and / or occasional incontinence.

In 5 percent to 10 percent of patients, severe constipation or incontinence is a long-term issue. Severe

constipation is treated primarily by dietary manipulation and laxatives. True incontinence is managed
with a bowel management program.

Neurologically impaired children or those with Down syndrome generally do not fare as well as other
children. They have a two- to threefold increase in incontinence or severe constipation.

Sodium Supplementation

Some patients, particularly those with total colonic Hirschsprung disease, have an ileostomy for many
months and sometimes years. These patients need to be followed closely for growth and watched
carefully for dehydration.

Through the ileostomy they can lose sodium, and often sodium supplementation is needed orally. Your
pediatrician or caregiver, in conjunction with a nutritionist, should be aware of this and would need to
prescribe the oral sodium supplementation.

Read the Cincinnati Children's Hospital Medical Center guidelines.

For more information or to request an appointment, contact the Colorectal Center at Cincinnati
Children's.

Last Updated 06/2015

https://www.cincinnatichildrens.org/health/h/hirschsprung
Background
In 1886, Harold Hirschsprung first described Hirschsprung disease as a cause of constipation in early
infancy. Early recognition and surgical correction of Hirschsprung disease protects affected infants from
enterocolitis and debilitating constipation.

Pathophysiology
Hirschsprung disease results from the absence of enteric neurons within the myenteric and submucosal
plexus of the rectum and/or colon. Enteric neurons are derived from the neural crest and migrate
caudally with the vagal nerve fibers along the intestine. These ganglion cells arrive in the proximal colon
by 8 weeks' gestation and in the rectum by 12 weeks' gestation. Arrest in migration leads to an
aganglionic segment. This results in clinical Hirschsprung disease.

Epidemiology
Frequency

United States

Hirschsprung disease occurs in approximately 1 per 5000 live births.

International

Prevalence may vary by region and has been shown to be as high as 1 per 3000 live births in the
Federated States of Micronesia. [1]

Mortality/Morbidity

The overall mortality of Hirschsprung enterocolitis is 25-30%, which accounts for almost all of the
mortality from Hirschsprung disease.

Sex

Hirschsprung disease is approximately 4 times more common in males than females.

Age

Nearly all children with Hirschsprung disease are diagnosed during the first 2 years of life. Approximately
one half of children affected with this disease are diagnosed before they are aged 1 year. A small
number of children with Hirschsprung disease are not recognized until much later in childhood or
adulthood.

https://www.medscape.com

Overview
By Mayo Clinic Staff
Print


Hirschsprung's disease
Hirschsprung's disease

In children with Hirschsprung's disease, nerves fail to form in all or part of the large
intestine (colon). Waste from digestion cannot pass through the part of the colon lacking
nerve tissue. The normal colon swells with blocked stool.

Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon)
and causes problems with passing stool. The condition is present at birth (congenital) as a result
of missing nerve cells in the muscles of the baby's colon.
A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days
after birth. In mild cases, the condition might not be detected until later in childhood.
Uncommonly, Hirschsprung's disease is first diagnosed in adults.

Surgery to bypass or remove the diseased part of the colon is the treatment.

Symptoms and causes

By Mayo Clinic Staff

Symptoms

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and
symptoms appear shortly after birth, but sometimes they're not apparent until later in life.

Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after
birth.

Other signs and symptoms in newborns may include:

Swollen belly

Vomiting, including vomiting a green or brown substance

Constipation or gas, which might make a newborn fussy

Diarrhea

In older children, signs and symptoms can include:

Swollen belly

Chronic constipation

Gas

Failure to thrive

Fatigue
Causes

It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and might, in some
cases, be associated with a genetic mutation.

Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon
control the muscle contractions that move food through the bowels. Without the contractions, stool
stays in the large intestine.

Complications

Children who have Hirschsprung's disease are prone to a serious intestinal infection called enterocolitis.

Enterocolitis can be life-threatening. It's treated in the hospital with colon cleaning and antibiotics.

Risk factors

Factors that may increase the risk of Hirschsprung's disease include:

Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have
one child who has the condition, future biological children could be at risk.

Being male. Hirschsprung's disease is more common in males.

Having other inherited conditions. Hirschsprung's disease is associated with certain inherited
conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart
disease.

Diagnosis

By Mayo Clinic Staff

Your child's doctor will perform an exam and ask questions about your child's bowel movements. He or
she might recommend one or more of the following tests to diagnose or rule out Hirschsprung's disease:

Abdominal X-ray using a contrast dye. Barium or another contrast dye is placed into the bowel through
a special tube inserted in the rectum. The barium fills and coats the lining of the bowel, creating a clear
silhouette of the colon and rectum.
The X-ray will often show a clear contrast between the narrow section of bowel without nerves and the
normal but often swollen section of bowel behind it.

Measuring control of the muscles around the rectum. A manometry test is typically done on older
children and adults. The doctor inflates a balloon inside the rectum. The surrounding muscle should
relax as a result. If it doesn't, Hirschsprung's disease could be the cause.

Removing a sample of colon tissue for testing (biopsy). This is the surest way to identify Hirschsprung's
disease. A biopsy sample can be collected using a suction device, then examined under a microscope to
determine whether nerve cells are missing.

Treatment

By Mayo Clinic Staff

Surgery

Surgery to bypass the part of the colon that has no nerve cells treats Hirschsprung's disease. The lining
of the diseased part of the colon is stripped away, and normal colon is pulled through the colon from the
inside and attached to the anus. This is usually done using minimally invasive (laparoscopic) methods,
operating through the anus.

In children who are very ill, surgery might be done in two steps.

First, the abnormal portion of the colon is removed and the top, healthy portion of the colon is
connected to an opening the surgeon creates in the child's abdomen. Stool then leaves the body
through the opening into a bag that attaches to the end of the intestine that protrudes through the hole
in the abdomen (stoma). This allows time for the lower part of the colon to heal.

Ostomy procedures include:

Ileostomy. The doctor removes the entire colon and connects the small intestine to the stoma. Stool
leaves the body through the stoma into a bag.

Colostomy. The doctor leaves part of the colon intact and connects it to the stoma. Stool leaves the
body through the end of the large intestine.

Later, the doctor closes the stoma and connects the healthy portion of the intestine to the rectum or
anus.
Results of surgery

After surgery, most children pass stool normally although some may have diarrhea at first.\

Toilet training may take longer because children have to learn how to coordinate the muscles used to
pass stool. Long term, it's possible to have continued constipation, a swollen belly and leaking of stool
(soiling).

Children continue to be at risk of developing a bowel infection (enterocolitis) after surgery, especially in
the first year. Be aware of signs and symptoms of enterocolitis, and call the doctor immediately if any of
these occur:

Bleeding from the rectum

Diarrhea

Fever

Swollen abdomen

Vomiting

Preparing for your appointment

By Mayo Clinic Staff

Hirschsprung's disease is often diagnosed in the hospital shortly after birth, or signs of the disease show
up later. If your child has signs or symptoms that worry you, particularly constipation and a swollen
abdomen, talk to your doctor.

You might be referred to a digestive disorders specialist (gastroenterologist) or to the emergency

department if your child's symptoms are severe.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything your child needs to do in advance, such as
fasting for a specific test. Make a list of:

Your child's signs or symptoms, including details about bowel movements frequency, consistency,
color and associated pain

Your child's key medical information, including other conditions he or she has and family medical
history

All medications, vitamins or supplements your child is taking and how much water he or she drinks in a
typical day

Questions to ask your child's doctor

Take a family member or friend along, if possible, to help you remember the information you're given.

For Hirschsprung's disease, basic questions to ask your doctor include:

What is likely causing my child's symptoms?

What are other possible causes?

What tests does my child need?

What's the best course of action?

If you recommend surgery, what should I expect from my child's recovery?

What are the risks of surgery?

What's my child's long-term prognosis after surgery?

Will my child need to follow a special diet?

Are there any brochures or other printed materials I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from the doctor

Your child's doctor is likely to ask you questions, including:

When did your child's symptoms begin?

Have the symptoms worsened?

How often does your child have a bowel movement?

Are your child's bowel movements painful?

Are your child's stools loose? Do they contain blood?

Has your child been vomiting?

Does your child tire easily?

What, if anything, seems to improve your child's symptoms?

What, if anything, appears to worsen your child's symptoms?

Self-management

. By Mayo Clinic Staff

Lifestyle and home remedies

If your child has constipation after surgery for Hirschsprung's disease, discuss with your doctor whether
to try any of the following:

Serve high-fiber foods. If your child eats solid foods, include high-fiber foods. Offer whole grains, fruits
and vegetables and limit white bread and other low-fiber foods. Because a sudden increase in high-fiber
foods can worsen constipation at first, add high-fiber foods to your child's diet slowly.

If your child isn't eating solid foods yet, ask the doctor about formulas that might help relieve
constipation. Some infants might need a feeding tube for a while.

Increase fluids. Encourage your child to drink more water. If a portion or all of your child's colon was
removed, your child may have trouble absorbing enough water. Drinking more water can help your child
stay hydrated, which may help ease constipation.

Encourage physical activity. Daily aerobic activity helps promote regular bowel movements.

Laxatives. If your child does not respond to or can't tolerate increased fiber, water or physical activity,
certain laxatives medications to encourage bowel movements might help relieve constipation. Ask
the doctor whether you should give your child laxatives and about the risks and benefits.

http://www.mayoclinic.org/diseases-conditions/hirschsprung's-disease/more-about/in-depth/ssc-
20214690

History
See the list below:

During the newborn period, infants affected with Hirschsprung disease may present with abdominal
distention, failure of passage of meconium within the first 48 hours of life, and repeated vomiting. A
family history of a similar condition is present in about 30% of cases.

Nearly one half of all infants with Hirschsprung disease have a history of delayed first passage of
meconium (beyond age 36 h), and nearly one half of infants with delayed first passage of meconium
have Hirschsprung disease.

Unlike children experiencing functional constipation, children with Hirschsprung disease rarely
experience soiling and overflow incontinence.

Children with Hirschsprung disease may be malnourished. Poor nutrition results from the early satiety,
abdominal discomfort, and distention associated with chronic constipation.

Older infants and children typically present with chronic constipation. This constipation often is
refractory to usual treatment protocols and may require daily enema therapy.

Hirschsprung enterocolitis can be a fatal complication of Hirschsprung disease. Enterocolitis typically

presents with abdominal pain, fever, foul-smelling and/or bloody diarrhea, as well as vomiting. If not
recognized early, enterocolitis may progress to sepsis, transmural intestinal necrosis, and perforation.
Physical
See the list below:

Examination of infants affected with Hirschsprung disease reveals tympanitic abdominal distention
and symptoms of intestinal obstruction. Individuals in this age group may also present with acute
enterocolitis or with neonatal meconium plug syndrome.

Children with Hirschsprung disease are usually diagnosed by age 2 years. Older infants and children
with Hirschsprung disease usually present with chronic constipation. Upon abdominal examination,
these children may demonstrate marked abdominal distention with palpable dilated loops of colon.
Rectal examination commonly reveals an empty rectal vault and may result in the forceful expulsion of
fecal material upon completion of examination.

Less commonly, older children with Hirschsprung disease may be chronically malnourished and/or
present with Hirschsprung enterocolitis.

Causes
See the list below:

Genetic causes The disease is generally sporadic, although incidence of familial disease has been
increasing.

Multiple loci appear to be involved, including chromosomes 13q22, 21q22, and 10q.

Mutations in the Ret proto-oncogene have been associated with multiple endocrine neoplasia (MEN)
2A or MEN 2B and familial Hirschsprung disease. [2, 3]

Other genes associated with Hirschsprung disease include the glial cell-derived neurotrophic factor
gene, the endothelin-B receptor gene, and the endothelin-3 gene.

Associated conditions Hirschsprung disease is strongly associated with Down syndrome; 5-15% of
patients with Hirschsprung disease also have trisomy 21.

Other associations include Waardenburg syndrome, congenital deafness, malrotation, gastric

diverticulum, and intestinal atresia.