The Role of the Registered Dietitian in the Diagnosis and Treatment of

Hirschsprungs Disease
Madison Reeder
Sodexo Dietetic Internship, August 2015

Table of Contents
I.
II.
III.
IV.
V.
VI.
VII.
VIII.
IX.
X.
XI.

Abstract
Introduction
Discussion of Disease
Medical Nutrition Therapy
Presentation of Patient
Critical Comments
Summary
Appendix
VIII.1.
DRI Chart
Glossary of Medical Terminology
Medication Bibliography
References

Abstract______________________________________________________________

Hirschsprungs disease is one that is usually considered congenital, given that it

typically presents in newborns less than 48 hours after birth. In rare cases, individuals
are diagnosed as adolescents or adults. Thankfully, surgical interventions have since
been discovered that promise a full recovery and fairly normal lifestyle postop for most

patients with the disease. Without surgery, a patient will likely not survive given that
there will be no place for waste to be excreted and it will therefore cause blockages in
the body that cannot be resolved on their own. The following review will discuss the
tests and diagnostics regarding Hirschsprungs disease. Additionally, it delves into the
nutrition management that is involved in the ongoing treatment of the disease.

Many complications can exist with Hirschsprungs disease if it is not treated

appropriately and managed. Additionally, other diseases an individual may have could
instigate further gastrointestinal issues and be a catalyst for abdominal upset throughout
the patients lifetime despite the problem being resolved with surgery. For most patients,
that means that they must monitor their diet as needed on their own or with the help of a
registered dietitian if other associated diseases make it took complex to handle on their
own.

This particular manuscript covers the hospital course of one particular 23-year-old
patient with complications from his intestinal resection, which occurred approximately 10
years prior to the onset of his current issues. His hospital visit was approximately 11
days in length, and during that time he had a hernia repaired. The hernia was most
likely due to chronic constipation as a result of his previous illness. Once the hernia was
repaired, the patient was able to ease into a regular diet with the supervision of the GI
doctor and the RDNs of Nazareth hospital and return home when stable.

Introduction___________________________________________________________

After attempting to choose a topic for many weeks, and pushing the deadline for
selecting a topic to the limit, the ideal patient and condition fell into my lap unexpectedly.
My range of interest was so wide that narrowing my options to a solitary one was quite

difficult. To be quite honest, I did not have a single particular idea of interest in mind and
had no idea which direction to take my case study paper and presentation.

I knew that I had an interest in GI issues, endocrine disorders, different types of cancer,
and pediatrics. When my case study patient came into the hospital and the dietary
department determined that he had nutritional concerns, I was thrilled to be able to
assess him. His illness and current state tied in my interests of pediatrics and GI
complications. Although he was not a pediatric patient given that he was 23 years of
age, he had a pediatric disease that I had not heard of thus far in my education which
was intriguing to me and I decided to take the case.

While I recognize that to some, this case may not be the most extravagant there were
no extensive procedures completed, no extensive hospital stays, and no dire situations
requiring instant action. I did believe that his case would require more care when he
was first admitted after talking to the patient and the doctors at Nazareth Hospital, but
that was not the case. However, I feel that this case certainly taught me a great deal
about nutrition and myself. It forced me to go back and look at lifecycle nutrition and the
GI tract, and therefore I feel that it made me more aware of how nutrition effects
individuals of all ages and I am thankful that I chose this particular case and topic.

I have always worked with children from the time I was about thirteen. More recently, I
babysat, taught dance classes, gave presentations to underprivileged children in
college, presented to high school students regarding healthy eating and eating

disorders, I was a nanny, and worked at a fitness center with smaller children at times.
Additionally, I grew up with a brother six years younger than myself and spent a great
deal of time taking care of him, which I loved. My brother, Mason, also has a serious
illness and therefore frequent doctors visits, medications, and diagnoses were a
common topic of conversation that I took part in, which ties in my love for science and
nutrition to all of my work and activities with children. As much as I love working with
adults, I come alive when speaking to the younger population. While I do not know if this
is an area I would like to specialize in or even if I would flourish in that area of my
career, I feel that working with the younger age group helps me to remain bubbly,
empathetic, inventive, and optimistic.

Because my patient was very unique, given that he came to me as an adult with the
complications from his pediatric disease, there was much I was interested to learn. I
hoped to discover why Hirschsprungs occurs, how it is detected and during what time,
and how it can cause complications overtime. It is my hope that through this case study,
I will become more knowledgeable of the GI tract and associated complications.
Additionally, I am looking forward to improving my knowledge on diseased states and
the correct function of the GI tract in comparison a normally functioning body.

Disease Discussion_____________________________________________________

Overview of HD
Hirschsprungs disease, or congenital aganglionic megacolon, is a blockage of the large
intestine due to a lack of ganglion cells, causing poor movement of the bowels CITE.
The disease inherited its name from a Danish pediatrician who was first able to describe
the disease in 18871. In a normally functioning individual the muscles of the

gastrointestinal tract assist the motion of food from the point of intake to excretion. The
motion of the muscles, peristalsis, moves the food along and allows for the food to be
mixed and broken down due to the cycle of contraction and relaxing. Ganglion cells are
nerve cells that lie outside the central nervous system, which can be specialized to
conduct impulses depending on their location and origin 2.Those particular cells are
what allow the intestines to make the motion that moves food along via peristalsis,
allowing the intestines to expand and contract as necessary for motility. Without the
ability to both contract and relax, the bowel will remain constricted and narrow, therefore
causing blockages with painful symptoms

3.

Once the food passes the initial breakdown from the esophagus, it moves to the
stomach where the combination of peristalsis and digestive acid break it down enough
to be passed further along the GI tract. The once solid food products are now called
chyme. The small intestines are intended to break down and transport the chyme after it
leaves the stomach 4. During the breakdown digestive juices from the liver, pancreas,
and intestines allow vitamins and nutrients to be released to the body for usage via the
bloodstream, or absorbed into the intestinal walls for growth and development. Figure 1
depicts the normal anatomy of a healthy GI tract.
Figure 1 5

Once food products are broken down in the mouth, stomach, and small intestine, the
remains are moved along the digestive tract to the large intestine to be excreted. The
large intestine, which is about five feet in length in an adult, is meant to absorb water
and minerals and eliminate waste from the body. The large intestine transforms the
liquid product to solid stool to be excreted 5. The colon is divided into three main parts:
the ascending, transverse, and descending colon. All parts of the colon work together to
pass waste products along with the help of specialized cells in the digestive tract

6.

Therefore, in individuals with Hirschsprungs disease, the lack of ganglion cells in the
colon, rectum, or even small intestines does not allow for the motility of waste products.
The aganglionotic cells almost always begin distally and are confined to the rectum and

sigmoid colon in 80 to 85% of cases. However, in rare circumstances, the entire colon
and or part of the small intestine can be affected 7.There are three official types of
Hirschsprungs disease which are classified based on the length of the affected portion
of the intestines; short segment, long segment, and total colonic aganglionosis, the
most common being short segment where only a small portion of the colon is affected 8.
Figure 2 is provides a visual of the swollen colon of a HD patient, and in the case in the
photo the patient would be considered short segment HD

Figure 2 9

As seen in figure 3 below, the black dots representing healthy nerve cells should be
evenly distributed throughout the entire intestinal tract. When any number of them are

missing, the intestines lose their ability to relax and become narrow, creating the
blockage. The intestine in the area where cells are missing squeezes shut and stool
ceases to move onward, producing constipation, pain, and obstruction that could cause
a multitude of related issues such as enterocolitis, the most common infection
associated with an obstructed bowel in Hirschsprungs patients 3. When an intestinal
obstruction occurs, it is considered a medical emergency and requires treatment within
24 hours to prevent complications or death.

Figure 3 3

Etiology
The lack of ganglion cells in Hirschsprungs disease occurs during gestation when the
migration of colonic ganglion cells fails. The cause of Hirschsprungs disease is mostly

heterogeneous and is not understood fully yet. Studies of mice have shown that there is
a delay or overall halt in the movement of cells, which causes the neural crest cells to
fail to reach their positions in the intestines. In addition, other studies have shown that
cells not only fail to reach their destinations, but that they fail to survive, differentiate, or
proliferate due to abnormalities after migration of the cells

7.

More specifically, most cases of Hirschsprungs disease are due to mutations in the
RET proto-oncogene (RET) and endothelin receptor B (EDNRB) gene in addition to the
glial cell line-derived neurotrophic factor (GDNF) gene

8.

The normal function of the RET

gene is to produce protein that helps to send signals within cells. RET is essential for
the development of multiple types of nerve cells such as intestinal cells and portions of
the autonomic nervous system that control involuntary actions 10. Without appropriate
RET signaling, the nerves to not appropriately develop, therefore causing the issues
associated with HD because the nerves control the contractions in the intestines. The
endothelin receptor B gene (EDNRB) gives instructions for creating a protein located on
the surface of cells. The protein sends signals and transmits information from the
outside of the cell to the inside. The receptor networks with proteins to regulate multiple
biological processes such as the function and development of blood vessels, hormone
production, and cell growth and division (Etiopathological aspects of achalasia). The
glial cell line-derived neurotrophic factor (GDRF) gene is yet another protein that
promotes neuron survival and differentiation 10.

Despite the research that has been constructed on the previously listed genes, it must
be noted that there is still very little known about the true etiology of the disease. Only
about 20% of HD cases can be fully attributed to the RET, EDNRB, and GDNF genes.
There may be other undiscovered genetic interactions that change the development of
ganglion cells that come from the neural crest cells and therefore alter the final product
of the colonic cells 8. As research has been performed over the past decade, more has
been identified about the listed genes in question and the results continue to have a
strong pull on their genetic inferences. These shreds of evidence give hope that the
suggested genes are the missing link as to what abnormality causes HD. Knowing all of
the specific genes could eventually play a role in how to better treat and or predict the
probability of the disease 11.

That being said, Hirschsprungs disease is also associated with other diseases such as
Downs syndrome as well as neurologic, cardiovascular, urological, and gastrointestinal
abnormalities 12. This suggests that the disease is in fact multifactorial; it can be familial
or develop otherwise. These diseases and biological abnormalities often times run in
families, especially neurocristopathies which are tissue malformations and other
diseases of the heart and endocrine system. Instances of HD with additional diseases
further suggest that Hirschsprungs disease is in fact genetic despite not knowing
exactly in what way, or which genes it is more highly associated with.

Statistics

Studies have identified gene defects in Hirschsprungs patients and as previously

stated, the most common mutations are located to the RET proto-oncogene on
chromosome 10, which accounts for approximately 20% of sporadic cases of
Hirschsprungs disease and approximately 50% of familial cases 7. The condition itself is
congenital, and is most of the most commonly observed cause of intestinal obstruction
in newborns 13. According to Ricketts about 80% to 90% of patients are diagnosed as
newborns 13. More specifically, 15% are diagnoses in their first month, 40-50% within the
first three months, 60% by their first birthday, and 85% by 4 years of age. For patients
who are diagnosed beyond the period of infancy, the average age of diagnosis after 10
years of age is approximately 26 years old 14. Newborns who present with the disease
have complete intestinal obstruction. There is abdominal distension, emesis, and failure
to pass meconium, which is the dark green mucilaginous first stool of infants before they
begin feeding and forming more adequate stools 15.

In addition to the disease having a typically congenital origin, it is most commonly

associated with male newborns. About 1 in 5000 live born babies are diagnosed with
Hirschsprungs disease, with a 4:1 ratio of boys diagnosed to girls 7. While most cases
are diagnosed at birth, there are some that only come into fruition in teenagers and
adults. In patients who are older, they typically present with a history of severe
constipation and GI upset with worsening symptoms that lead them to seek medical
advice 1.

Signs and symptoms

According to Ricketts, most full term infants pass their meconium in less than 24 hours
after birth 13. Infants who do not are examined for possible Hirschsprungs disease,
especially after a 48-hour period. Bowel obstruction presents in about 25% of newborns
with HD, and classic features are, distended abdomen, bilious vomiting, lethargy,
dehydration, fever, meconium not passed, and occasionally dilated peristaltic loops
visible per abdominal examination 16. Because some of the signs and symptoms may be
related to other issues or simply not deemed as a cause of worry especially if they pass
quickly, certain cases of HD are not discovered until later in life.

In toddlers, older children, and adults, signs and symptoms are similar. Patients will
present with a history of chronic constipation. Additionally, patients also complain of
early satiety, which will lead to poor overall nutritional status and poor weight gain. A
history of the patient will usually reveal that as an infant, meconium was not in fact
passed within 24 to 48 hours after birth. Delayed signs and symptoms can often be
attributed to breast feeding because it creates a softer stool in an infant, therefore
constipation and other issues may not have occurred at the time or could go unnoticed
13.

Certain patients will present with Hirschsprungs associated enterocolitis, which is the
most life-threatening accompanying disease and can occur at any age. Enterocolitis is
the death of tissue in the intestine. It most likely occurs due to a lack of blood flow to the
bowels, which prevents mucus production in the intestines. Because of the
aganglionotic cells in the colon due to Hirschsprungs disease, the large intestine seals

itself, which would in turn explain the tissue death. Symptoms of enterocolitis are
abdominal pain, fever, foul-smelling and bloody diarrhea, and vomiting. If enterocolitis is
not noticed in its early stages, it has the ability to progress to sepsis, transmural
intestinal necrosis, and perforation 17.

Diagnostics
Various investigatory tests are done in suspected Hirschsprungs disease cases. An xray can be taken of the abdomino-pelvic cavity, which will show dilated bowel loops in
HD patients, an absence of a rectal gas shadow, a loaded colon, gas located beneath
the diaphragm, and air-fluid levels with intestinal obstruction 12. A barium/contrast
enema is also used in a large amount of cases, approximately 70-75%. Barium is
placed in the rectum, during which x-ray pictures are taken (see figure 4). This method
is not particularly diagnostic but can be used to further support a diagnosis. It is also a
good diagnostic tool to utilize if a patient is unable to complete a biopsy. The enema is
widely available and fairly easy to complete in all hospitals.

Figure 4 12

Contrast enema x-ray

Photo A: 2 weeks of age, dilated small bowel (small arrow) and normal colon
(large arrow)
Photo B: 4 months of age, note transition of where normal colon becomes
aganglionotic (arrow)

A rectal biopsy, however, is considered the gold standard for Hirschsprungs

diagnostics, as it distinctly shows whether or not the patient is lacking ganglion cells
characteristic of the disease. The specific type of biopsy that can be done is called a
rectal suction biopsy (RSB). If HD is present, the results of the biopsy will show a lack
of ganglion cells and hypertrophic nerve trunks, or overgrown nerve endings due to
swollen cells. The accuracy of the biopsy is affected by the patients age, which can be
related to the development of the enteric nervous system shortly after birth. The most

accurate tests are retaken and evaluated approximately a month and a half after birth in
order to determine the most accurate treatment and lifestyle options 18. Although a
biopsy is the best way to diagnose HD, there are some parents, children, and adults
who refuse due to the potential risks a biopsy has. In that case, a patient would need to
stick to the enema and x-ray diagnostic tests, which may take more time to come to a
conclusion 18.

Laboratory Values
For Hirschsprungs patients, laboratory values are not as indicative as other diagnostic
tests. However, CBW and or WBC should be monitored, especially if enterocolitis is
suspected or evident. They each evaluate overall health status and can identify whether
or not there is infection or general distress in the body. Additionally, electrolytes should
be tested to determine signs of any dehydration due to a dysfunctional colon and lack of
appropriate water absorption. If a person is constipated and in pain, their fluid and food
intake may be poor, therefore it may be increasingly important to check for specific
markers of dehydration. More specifically, sodium, potassium, and bicarbonate should
be monitored.

BUN is often an important laboratory value that is analyzed for any hospitalized
individual. It indicates the amount of nitrogen in the blood that comes from urea, which
is a waste product of protein. If there is an excess of urea in the blood, it can be
indicative of poor kidney function. These results are important given that if the GI tract
has come to a halt, the kidney function will most likely be poor as will the BUN test.

Creatinine blood tests similarly indicate the kidney function and should also be
monitored.

If any of the listed laboratory values are off, it could indicate improper function of the
bowels and GI tract. The following table represents normal values for each of the noted
labs. When diarrhea, vomiting, constipation, dehydration, electrolyte imbalances, and
bowel obstructions occur as a result or complication of Hirschsprungs disease, labs will
therefore indicate it and further steps will need to be taken to fix inappropriate blood test
levels.

Laboratory Test
White blood count
Sodium

Normal Range for

Adult
5000 10,000 mm3
136 145 mEq

Potassium

3.5 5.0 mEq/L

Bicarbonate
BUN
Creatinine

- 2 to + 2 mEq/L
7 20 mg/dL
Men: 0.6 1.2 mg/dL
Women: 0.5 1.1mg/dL

Normal Range for

Child
6200 17,000 mm3
Child: 136 145 mEq/L
Infant: 134 144 mEq/L
Child: 3.4 4.7 mEq/L
Infant: 4.1 5.3 mEq/L
Newborn:3.9 5.9
mEq/L
5 18 mg/dL
Adolescent: 0.5
1.0mg/dL
Child: 0.3 0.7 mg/dL
Infant: 0.2 0.4 mg/dL
Newborn: 0.3 1.2

mg/dL
Medical Treatment
How Hirschsprungs disease is treated is dependent on multiple factors. How much of
the intestine is affected, age, medical and family history, current state of health and the
ability to handle procedures and medications, familial support, and projected disease
outcomes play a role in determining the best type of treatment. Once the patients
overall status has been evaluated, the method of treatment can be determined. The
doctors, parents, and patient if able can decide whether to choose a minimally invasive
treatment option or a more traditional approach. Treatment of Hirschsprungs disease
focuses on extricating or bypassing the portions of the bowels that are lacking ganglion
nerve cells and replacing it so that the GI tract can fully function.

Treatment of Hirschsprungs disease must be surgical in the great majority of cases.

Without removing, replacing, or fixing the dead portions of intestine, the bowels will not
properly function and the individual will not survive. Prior to surgery, it is important for a
patient to be as stable as possible if there is time to do so. Fluid and electrolyte
imbalances should be corrected; antibiotics should be utilized to treat illnesses such as
enterocolitis if necessary. If the patients state is extremely poor due to enterocolitis or
another condition, a colostomy may need to be placed 6 months before surgery can
occur while a full recovery happens. If the patients health checks out and they are able
to have surgery, rectal decompression aided by rectal irrigation and rectal tubes should
be completed until the time of surgery to withhold additional and increasing obstruction.
An operative intervention was first recognized in 1948 and was described by Swenson

and Bill. In general, reconstruction involves moving or stretching the normal innervated
bowel to the anus without altering sphincter function in the patient 7.

Procedures
A pull-through procedure is the least invasive and most common surgical option for the
patient. There are several pull-through techniques with complication rates of around 4 to
16 percent and minimal morbidity rates should the patient be in fair health prior to the
procedure 12. A typical pull through removes the large bowel, specifically the portions
that are aganglionotic. Then, the portions that are healthy are reconnected to the anus.
The type of pull through procedure depends on the portion of the intestines that are
damages, medical state prior to operation, and the familys wishes 20.

A patients with Hirschsprungs diseases surgery may be unable to undergo a pullthrough procedure right away given any kind of infection or preexisting issue. Because
the problem does have to be resolved in some manner if the patient does not want to
suffer a life threatening bowel obstruction, there are other options available. Often
times, the patient will have the aganglionotic portion of the colon removed and the
healthy portion will open to the outside of the body and a colostomy bag will be utilized
until the rest of the pull-through procedure can be completed

21, 13

. By completing the

procedure with the ostomy, it gives the inner incisions time to heal before passing stool
through.

Figure 5

Pull-through Procedure 3

Prior to pull-through
surgery:
The diseased segment
is incapable of pushing
stool.

Figure 6
Ostomy Surgery

Step 1: The diseased

segment is removed.

Step 2: The healthy

segment is attached to
the remaining rectum.

Step 1: The diseased segment is

removed.

Step 2: The healthy intestine is

moved to an opening in the
abdomen where a stoma is created.

Complications
As with any procedure, there is a risk for complications. Most individuals who have
surgery for Hirschsprungs disease recover with little to no issues. As a result of general
anesthesia, there could be bleeding, infection, or intestinal blockage due to scar tissue.
The biggest problem associated with surgical interventions for Hirschsprungs disease,
especially when the pull through procedure is uses, is chronic constipation.

Constipation in itself is uncomfortable and unpleasant for the patient, but it can lead to
enterocolitis. An infection in the intestine recently after surgery is life threatening.
Therefore, a proper nutrition regimen should be followed to avoid problems. The patient
and family should work together diligently with a registered dietitian and the doctor in

order to assure that the patients bowels are functioning as normally as possible post op
and in years to come. Even after a period of time, the patient may still have
complications

Post-Surgical Needs
After any operation, a patient should be closely monitored for signs of complications.
The most common problems associated with surgery for HD are bleeding, nausea,
vomiting, constipation, diarrhea, leakage, and abdominal pain. Depending on how much
of the intestines were resected, a patient may have some acid reflux as well. A doctor
may prescribe medication to alleviate such problems to ease the transition to a more
normal functioning GI tract. These signs and symptoms should be closely monitored,
especially in the first 72 hours after surgery. While these symptoms may just be the
result of the body healing after surgery, it may also be a sign that the body has rejected
the changes from the surgery or that something did not go as planned. If problems are
noted, is it important for the health care team to take action to avoid any additional
complications and further issues. The entire healthcare team should be working
together in order to get the bowels working properly as soon as possible after surgery. A
registered dietitian should be monitoring the patient and beginning the transition into a
normal diet slowly, beginning with clear or low residue liquids and moving towards a
normal diet with adequate fiber to form stools.

Prognosis

Typically, Hirschsprungs patients are able to live normal lives once an intervention has
taken place and the colon function is restored. Patients with no additional issues have a
90% survival rate. However, patients who have HD coupled with another disease or
illness may have a lesser chance of survival. That chance is dependent on interventions
for other illnesses, the prognosis from additional illnesses, medication, diet, and
personal lifestyle. It should also be noted that most of the mortality associated with
Hirschsprungs disease is related to enterocolitis, as 30-35% of individuals with
untreated or slowly treated enterocolitis die each year 13.

Medical Nutrition Therapy________________________________________________

Appropriate care for a Hirschsprungs patient involves specific attention to the bowels
and entire gastrointestinal tract to promote favorable outcomes. The cooperation of an

entire healthcare team is the most beneficial way to handle the disease and treat it
adequately. Because HD diagnosis and intervention are most commonly associated
with young children, special care must be taken to ensure that the patient and family are
aware of the procedures, complications, and lifestyle changes that must be made.

Nutrition Assessment
A Registered Dietitian sees a patient with Hirschsprungs disease from the point of
diagnosis until their procedures are cleared and they leave the hospital setting. In some
cases, the dietitian will continue to see the patient throughout their lifespan depending
on severity of the disease, any complications, and the patients personal needs.
Typically, an assessment is completed at birth upon diagnosis and the patient is
followed up regularly to ensure that proper nutrition is provided despite an ill performing
bowel. Registered dietitians follow the Nutrition Care Process. It is outlined by the
Academy of Nutrition and Dietetics (AND) during the assessment of every patient to
assure that the quality of care meets a high standard. The Nutrition Care Process
comprises an assessment, diagnosis, intervention, and the monitoring and evaluation of
the patient 22.

Among the Hirschsprungs population, nutrition care is personalized based on age of

diagnosis, state of the intestinal damage, and any other health complications that may
coincide with the disease. Anthropometric data includes the measurement of length or

height, weight, and head circumference if the infant is less than three years of age. If
applicable, measurements are plotted on a growth chart and compared to data.

Nutrition Diagnosis
All patients with illnesses and diseases requiring medical nutrition therapy require
diagnostic statements (PES statements) to identify the most pertinent current issues
and establish an intervention and plan of care for the patient. The goal of a PES
diagnostic statement is to improve the patients nutritional status by treating the
symptoms of their illness or disease that can be improved nutritionally. Multiple PES
statements can be utilized at a given time for a single patient 22. Some examples of a
general Hirschsprungs disease patients PES statements are as follows:

Inadequate oral intake (NI-2.1) r/t limited tolerance to food AEB frequent vomiting

for multiple days.

Altered nutrition related laboratory values (NC-2.2) r/t frequent vomiting episodes

AEB low electrolyte levels on most recent laboratory tests.

Breastfeeding difficulty (NC-1.3) r/t late onset PO feeding AEB infant has not

consumed PO since HD diagnosis and refuses PO feedings.

Altered GI function (NC-1.4) r/t bowel obstruction AEB abdominal x-ray indicating

obstruction and HD diagnosis.

Altered GI function (NC-1.4) r/t lack of ganglion cells available in the colon to
move stool AEB diagnosis of HD and rectal biopsy confirming aganglionotic cells.

Nutrition and Hirschsprungs disease

When a patient is first diagnosed with Hirschsprungs disease, they are typically made
NPO, or nothing by mouth in order to complete testing. The patient will typically remain

NPO until after surgery, unless the surgery is postponed for a few days or weeks. In that
case, they will either breast feed, formula feed, or need EN/TPN in order to maintain
their nutritional status prior to their surgery. It is necessary that a pediatric patient obtain
adequate intakes so that they can grow adequately and without stunting. Post-surgical
nutritional interventions include a slow transition into a normal diet. For infants and
toddlers, they will either be allowed to breast feed multiple times per day, formula feed,
or consume a solid food diet based on parental preference.

In necessary cases, an infant may need enteral nutrition support or even total parenteral
nutrition support to transition back to a normal diet either as a supplement or as a total
source of nutrition. EN may be needed if there are other feeding related issues or if the
infant refuses to eat. Sometimes, the trauma of surgery and separation from the mother
and inadequate feeding during even just the first few days after birth can cause feeding
problems for an infant. In those cases, EN or TPN may be needed to supplement the
babys nutrition while they learn how to feed either by way of breast milk or formula
solution. EN may also be needed even if the infant is consuming formula or breast milk
regularly given that many babies need more calories after surgery in order to heal
properly. A registered dietitian can calculate how many calories the infant needs based
on their gestational age, weight, length, head circumference, additional illnesses, and
more and determine whether or not nutrition support is needed and how much. Infants
from 0 to 6 months need approximately 106 calories per kilogram and infants who are 6
to 12 months old need about 98 calories per kilogram
additional needs for patients and their age).

22

(see chart in appendix VIII 1 for

Typically in cases where enteral nutrition is needed, a naso-gastric tube will be utilized
to feed the child by way of the gut. The NGT is usually the selected route of feeding
because it is utilized for short term, it feeds the patient into the gut, and because an
NGT is usually dropped post operatively regardless in order to drain excess acid from
the stomach after surgery. Therefore, the NGT can be used for multiple purposes. An NJ
tube is not usually the best route for feeding given the current state of the intestines
post operatively. The intestines are most likely more sensitive and trying their best to
heal and therefore placing nutrition directly into them adds too much additional stress.
The type of formula that will work best for the patient is dependent on other conditions
and their current growth 22.

Breast milk for an infant with Hirschsprungs disease is preferred given the nutrient
density of the substance and its laxative effects. Additionally, breast milk is easy on the
GI tract and is easy for the intestines to digest. Once an infant begins consuming baby
food or if they were already doing so at the time of the surgical intervention, foods that
help to avoid constipation are preferred to start. Such foods include pureed prunes,
peas, spinach, apple juice, mixed grain cereal, pears, carrots, green beans, blueberries,
mixed vegetables, and sweet potatoes. These foods and others should be consumed
with adequate fluids to help with motility, be it breast milk, water, or watered down
juices. While some of the foods listed above would be too fibrous for an older HD
patients body to tolerate post operatively, they would suit a baby well. This is because a
baby will transition from breast milk or formula to small amounts of those foods.

Additionally, most baby foods are pureed which in itself breaks down the fibers in the
products. Baby food produce are also usually prepared without the skin, which is the
typically the most fibrous part of the fruit or vegetable, therefore decreasing the fiber
content.

Typically, an older patient who is capable of a solid food diet will begin with a clear liquid
diet and transition into full liquids, then a low residue diet. The purpose of the transition
is to not overwork the bowels all at once. By slowly transitioning from clear liquids,
which are easily tolerated by the entire body to low residue foods, it allows the stomach
and intestines to build up a tolerance for the increased bulk of food and nutrients after
surgery and bodily distress. Once the diet is fairly normal, adequate fiber should be
added to the diet. Fiber is very important, especially for an individual with an intestinal
disease because it adds bulk to the food consumed and helps pass stool, therefore
preventing constipation if consumed in appropriate amounts. Adequate intakes of water
should also be consumed to maintain digestive motility and hydration status.

Some RDs believe that there should be less of a transition to a normal diet. Many
believe that the low residue diet at accompanies or follows the clear liquid diet is
unnecessary. They feel that the body should be challenged and work to its goal potential
right away so that the GI tract remains strong and mobile. However, this decision is up
to ideals of the health care team in addition to the patient and guardians 23.

Presentation of Patient__________________________________________________

A.M. is a 23-year-old white male who was admitted to Nazareth Hospital on May 2,
2015 with a bowel obstruction. He presented with abdominal pain, abdominal
distension, constipation, poor appetite, nausea, vomiting, and dehydration. A.M. stated

that his last bowel movement had not occurred for a few days, which was irregular for
him. A.M. was a new patient to Nazareth Hospital with no previous history there. A.M.
triggered for a nutritional intervention because he had been labeled NPO for 3 days
after admission. A.M. is a full time student with a part time job in retail that lives in an
apartment on his own. He prepares his own meals and enjoys cooking healthy options
for himself given his intestinal situation. He was compliant of a general healthy diet with
low residue options versus fibrous options as necessary in addition to appropriate fluid
intakes. A.M. tries to stay away from excessively sweet or fatty foods such as soda and
fried meats because they upset his stomach and give him problems when he consumes
them. He stated that sometimes when he eats poorly on occasion, his stomach hurts
enough that he becomes fearful of eating and has to very slowly ease into a normal
healthy diet again.

Past Medical History

A previously documented past medical history of the patient was unable to be obtained.
However, a verbal assessment from the patient and his mother was taken. A.M.s
mother stated that he was always a fussy eater and had difficulty feeding that seemed
to coincide with constipation and gas as an infant and toddler, but it did not seem out of
the ordinary to her or to the pediatrician they were seeing regularly. The patient stated
that his Hirschsprungs disease was diagnosed when he was 13 years old after
experiencing extreme and ongoing constipation and abdominal pain, around May 2005.
At that time, he visited a childrens hospital where a rectal biopsy was obtained and the
lack of ganglion cells in the colon were noted. At that point, Hirschsprungs disease was

officially diagnosed. It was considered long segment Hirschsprungs disease and A.M.
had to have surgery as a result. According to A.M. and mother, he had multiple
procedures completed. During which, they removed over 50% of his colon, then
provided him with a colostomy bag to give the incisions time to heal. Then, they sealed
the stoma and finished the pull-through procedure, attaching the healthy portion to the
anus instead of the stoma opening.

Post operatively, A.M. lost a lot of weight and had to slowly transition to a normal diet.
According to his mother, his doctors were concerned that he would have failure to
thrive. A.M. slowly transitioned to a normal diet after the procedure, beginning with clear
fluids and low residue foods in small portions and regained his weight as needed. A.M.
and his family promoted a healthy diet which seemed to help ease his abdominal pain
for the majority of his life post op in the home setting. A.M. had no complications from
his procedures other than occasional constipation and stomach discomfort. A.M. has no
other pertinent medical history or family history of illness or disease.

Hospital Course________________________________________________________

May 2, 2015: A.M. was admitted to Nazareth Hospital with a bowel obstruction
after experiencing stomach pain and distension for more than 5 days and no

recent bowel movement

May 6, 2015: Initial nutrition assessment, patient picked up as a patient due to
NPO/Clear liquid status x 3 days

May 8, 2015: Status post-exploratory laparotomy (5/7/15), reduction and repair of

internal hernia today. Patient reports nausea and vomiting in the morning 5/8/15,
no solid foods tolerated since 5/2/15. Patient has lost 10 pounds since
admission on 5/2/15 and needs nutrition. If continuing to be nauseous and have

episodes of vomiting, A.M. may need enteral nutrition support.

May 11, 2015: Patient still status post hernia repair with no adequate PO intake

for 9 days. Patient diet is to advance to clear liquids today as tolerated.

May 12, 2015: Patient tolerating clear liquids in small sips. Potential to advance
to full liquids as tolerated. No nausea or vomiting noted. Abdominal x-ray results

from today are normal.

May 13, 2015: A.M. tolerating full liquids + ensure for adequate caloric intakes.

Low residue by mouth diet will begin today as tolerated.

May 14, 2015: Patients abdominal pain is resolving. Patient is doing well with PO

diet and will be discharged today.

May 14, 2015: Patient discharged from Nazareth hospital.

Initial Assessment: 5/6/15

Diagnostics: Bowel obstruction related to previous cholecystectomy due to

Hirschsprungs disease diagnosis

Assessment: 23-year-old male with history of Hirschsprungs disease presents with

abdominal pain, abdominal distension, constipation, poor appetite, and dehydration.
Patient stated that he was having nausea and vomiting prior to admission for multiple
days without cessation, but is improving now. Patient has been given some clear liquids

but is afraid to eat. A.M. took a few small sips of ginger ale and water this morning.
Patients weight appears appropriate to the eye. Patients eyes seem sunken in, most
likely related to dehydration. Patients skin is intact. Patient has no previous admissions
to Nazareth Hospital. Patient reports improving abdominal pain at the time of the
assessment.
Anthropometrics:

Weight: 172 pounds (78.2 kg)

Height: 6 feet, 4 inches (193.04 cm)
Body Mass Index (BMI): 21
BMI Assessment: Healthy Weight
Ideal Body Weight (IBW): Approximately 202 pounds (91.8 kg)
% IBW: 85%
Usual Body Weight (UBW): Between 175 and 180 pounds per patient
% UBW: 96 - 98%

Food and Nutrition History: Patient has a previous history of constipation and
therefore a poor appetite from time to time when symptoms occur. Otherwise, A.M.
consumes a general healthy diet, which he prepared himself at home with ingredients
he individually purchases at the supermarket. He eats out occasionally with friends, but
not often due to costs and his busy schedule. A.M. does not always get an adequate
amount of rest or exercise due to his schedule but tries his best to do so. A.M.
sometimes plays sports with friends or goes for walks to assist in regulating his GI tract.
Patient was NPO/Clear liquid upon room assessment. Patient stated that he had small
sips of water and ginger ale, but was taking it slow due to discomfort and lack of any
appetite.

Nutrition-related Medications: The only medications since admission have been an

antiemetic (Zofran), IV fluids, and potassium chloride
Abnormal Labs Upon Admission:

5/6 BUN 5L
5/5 BUN 4L, MG 1.7L, VITMAIN D 13L

Nutrition Requirements: Low residue per GI intolerances and limited acceptances,

energy needs dependent on weight status

1950 - 2340 kcal (25-30 kcal/kg)

78 - 94 g protein (1-1.2 g/kg)
1950 - 2340 ml fluid (1 ml/kcal)
Current Diet Order: NPO
Supplementation: Recommend a vitamin D supplement due to low levels of

vitamin D on blood test, monitor B12 due to poor PO intakes at this time
Nutrition Support: none

Nutrition Diagnosis: Inadequate oral intake related to limited access to food as

evidenced by NPO and clear liquid diet order for 3 days.

Nutrition Prescription: Begin with clear liquid diet and advance to full liquids, then
advance to a low residue diet as tolerated.

Interventions:

Meet needs PO as tolerated by next assessment

Monitor bowel status and bowel movements
Trend labs electrolytes, vitamin D, magnesium, BUN, and complete metabolic
profile

Replete vitamins and minerals as needed

Monitor weight

Monitoring/Evaluation:

Indicators: Total energy intake

Criteria: Patient to meet more than 50% of estimated needs PO by next
assessment

I followed up with A.M. as often as I could in order to ensure that he was tolerating his
basic diet as well as possible. In cases where he was not, I made sure to be in contact
with the GI doctor about his state and have him check in on A.M. With his history in
mind, it is not extremely uncommon that these symptoms and instances of bowel
obstructions to occur. However I wanted to make sure that the problem was fully taken
care of and his continued nausea and vomiting episodes were not the result of more
damaged cells or additional obstructions. A.M.s vomiting did subside after a few days
and another abdominal X-Ray showed that there was no additional damage or
obstruction and that his vomiting was just a result of the healing process and stress. I
was concerned about his ten pound weight loss during his admission, yet am
unsurprised given that he had not obtained any substantial nutrition from the date of
admission until the day before he was discharged. I believe that his weight will resume
once he returns home and begins consuming a normal healthy diet again.

Critical Comments______________________________________________________

As noted in A.M.s hospital course, he followed a very standard progression of action.

Because of his noted past medical history and his symptoms of abdominal pain,
nausea, and vomiting, I was worried that something bigger was wrong. Typically after a
bowel obstruction is removed or a hernia is repaired, the patient begins to feel better
and episodes of nausea and vomiting are not very common according to the GI doctor.
Because of the multiple procedures he had in the past to remove portions of the colon,
we worried that maybe something less common was now occurring in the bowels that
the doctor did not see. Because he had not eaten for 9 days at one point, I did think that
maybe enteral nutrition would be necessary if he did not start a by mouth diet soon.
Thankfully, A.M.s symptoms ceased and he was able to slowly begin a normal diet.

While writing this paper, I learned a lot about the digestive tract and how it should
appropriately function. I think that the most interesting thing that I learned in all of my
research was that congenital malformations can occur as early as 5 weeks gestation
and that with current research and genetic testing, there may be ways to better prepare

for or even prevent genetic issues. I found it interesting as well that babies diagnosed
with the disease at birth may not learn how to feed properly and may need nutrition
support and assistance from speech pathologists, feeding teams, and lactation
specialists in order to re-learn how to eat. Prior to my research, I did not realize how
crucial it was for an infant to begin their feeding and normal GI processes within 24
hours or less. This helped me to understand the catalyst of a lot of adult related
diseases that I have seen throughout my internship rotations and helps to piece
together many other disease states and their effects on mental status that I may come
across.

Had I been more familiar with Hirschsprungs disease when I first met A.M. and assisted
with his care, there are a few things I would have done differently and suggestions that I
would have made:

1. I think I would have understood more why A.M. was so afraid to eat anything
after his hernia repair. I do not think that I fully understood how having HD
diagnosed at his age could really affect his relationship with eating. I think I would
have been able to talk to the patient more and educate him on what to expect
and why certain things were causing him pain so that he would have been more
inclined to begin a PO diet sooner.
2. Had I known more about the disease, I feel that I would have pushed the GI
doctor to come and speak with A.M. as well in order to determine what his
normal bowel function is and conduct a better plan of care for the patient to take
home with him and continue. While GI was in constant communication with him, I

do not feel that he (or myself) knew enough about Hirschsprungs disease and
its effects after a pull-through procedure on a patient. I think that we as a team
could have educated A.M. and helped ease his mind about the entire process he
went through and give him tips for his lifestyle at home.
3. It may be a stretch, but I feel that A.M. would have benefited from some nutrition
support while in the hospital, especially because he lost so much weight in such
a short time period. Fortunately for A.M., he made a full recovery without
complications. However through my research on the topic, I know that others
have not been as lucky. Many people who need intestinal repairs or other
operations who are previous HD patients have greater difficulty transitioning back
to a normal diet if the gut and intestines are not worked for too many consecutive
days. Individuals may suffer from extreme constipation, diarrhea, or even a bowel
obstruction which would put them right back into the hospital. I think that I would
have tried to encourage the healthcare team to feed him, even if only a small
amount, in order to utilize the gut and intestinal muscles after he was cleared
from his surgery and his vomiting ceased.

I feel that A.M. was a very unique case given that his disease was only discovered at 13
when most are determined at birth. For that reason, this type of patient was a challenge
for the healthcare team and myself. It was not because his case was extremely difficult,
rather that it was quite unknown to our department as well as GI given that they work
with adults and therefore do not frequently see pediatric diseases come in. Other than
the suggestions I made above, I think we did a good job caring for the patient and did all
we could to accommodate his needs.

Summary_____________________________________________________________

Hirschsprungs disease affects the large intestine and can create difficultly with stool
movement and excretion. The disease most commonly appears in newborns up to 48
hours after birth when they fail to pass their meconium. However, it may go unnoticed
until early adulthood or even later in life although it is much less common. If the disease
is unidentified, the patient will have years of abnormal bowel function including chronic
constipation and pain, in addition to other issues. The lack of ganglion cells due to a
congenital and genetic nature causes the absence of motility in the colon. The lack of
ability to move waste products through and out of the body is very harmful and can
cause what is commonly known as a bowel obstruction. Without quick intervention, a
bowel obstruction could cause infection, perforation of other organs, and even death.

Hirschsprungs disease is treated with surgical interventions, which aim to remove the
most damaged portions of the colon and reconnect the pieces in order to for the bowel
to function appropriately. Without surgery or the addition of a colostomy, the bowels will
become obstructed until stool backs up into other parts of the body and eventually
cause death. The most common procedure is the pull-through procedure which has a
very high success rate among all HD surgeries.

Nutrition plays a very important role when treating Hirschsprungs disease. If

inappropriate foods are eaten post operatively too soon, it can cause damage to the
connected area of the colon and cause dumping syndrome, infection, tearing, and
obstruction as well as vitamin and mineral deficiencies. Proper nutrition should begin
slowly with clear liquids and low residue foods as to not upset the gastrointestinal
system. The entire healthcare team must work together in order to have the most
favorable outcome for the patients of the disease.

Appendix VIII 1: DRI Chart

Glossary of Medical Terminology

Hirschsprungs disease: congenital aganglionotic megacolon; disease that presents at
birth which makes it difficult or impossible for stool to pass due to the lack of nerve cells
in the colon that normally expand and contract to push stool through the intestines
Ganglion cells: nerve cells that are formed in utero that travel to the colon and send
signals to help the muscles expand and contract to move stool out of the body
Meconium: the first feces formed by a newborn, often dark green in color
Peristalsis: series of muscle contractions that are wave like; moves food to different
areas of the GI tract; begins when food is swallowed and continues in different areas
until excretion occurs
Chyme: semifluid bolus of partially digested food removed from the stomach and
transported into the duodenum which then moved through the intestines during
digestion
RET proto-oncogene (RET): gene that encodes a receptor for members of the glial cell
line; malformations of the RET gene are believed to be the cause of Hirschsprungs
disease
Endothelin receptor B (EDNRB) gene: gene that acts as a signaling mechanism that
transfers information from the outside to the inside of cells. It interacts with proteins and
regulates biochemical processes such as blood vessel development, hormone
production, and cell growth and division

Glial cell line-derived neurotrophic factor (GDNF) gene: works with the RET gene to
transmit information; it promotes survival and differentiation of neurons
Pull through procedure: type of colonic procedure performed in patients with HD during
which the unhealthy portion of the colon is removed and the healthy working portion is
reattached to the anus

Medication Bibliography
Zofran (Ondansetron): medication to prevent nausea and vomiting. Zofran can be taken
with or without food. Regular tablets can be taken by mouth with water. Orally
disintegrating tablets must only be opened right before ingestion and it must be fully
dissolved, not swallowed, for it to have an effect. It can also be taken in liquid form
according to the dosing instructions.
Side effects: Diarrhea or constipation, headache, drowsiness
Less common side effects: vision loss, bradycardia, trouble breathing, anxiety,
agitation, shivering, feeling faint, jaundice, loss of coordination, and infrequent urination.

IV fluids: H2O infused intravenously to maintain fluid balance, replace loss of fluid, and
to treat the imbalance of electrolytes.

Potassium Chloride: utilized to treat low blood levels of potassium as a result of

disease, poor dietary intakes, illness, diarrhea, or vomiting for a prolonged period of
time. The medication typically comes in tablet or capsule form to be taken by mouth. It
should be taken with food and drink in order to be properly absorbed into the body and
to avoid GI upset. The medication can also be injected or given intravenously as
needed.
Side effects: Nausea, vomiting, stomach discomfort or pain, diarrhea. Side
effects are more common when not taken with food

24.

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