Case Report

HIRSCHSPRUNG’S
DISEASE IN A CHILD
By :
Beatrice Koesmarsono

Supervised By:
Dr. dr. Jeanette I. Ch. Manoppo, Sp.A(K)
 TIMELINE

March 12th March 12th March 12th March 17th 2019 April 1st 2019
2019 2019 2019

   
Patient was    

admitted to Initial Initial Last Reporting

Hospital examination Observation observation

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 PATIENT’S RECORD
 
I. IDENTITY
1.1. PATIENT’S IDENTITY
Registration number : 00.56.37.XX
Name of patient : KFA
Date of birth : April 10th, 2017
 
(1 years 11 months old)
I
Gender : Female
Nationality : Indonesia
Date of Admission : March 12th,
2019

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 PATIENT’S RECORD
PARENT’S IDENTITY
FATHER MOTHER
Name : FK EK
Age : 33 years old 31 years old
Occupation : Farmer Housewife
Education : Junior High School Junior High School
 

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 HISTORY

• Chief complaint : Not having defecated for five days

Additional complaint : stomach got bigger

HISTORY OF PRESENT ILLNESS:

Patient was admitted with chief complaint of not having defecated
for five days. She defecates one or two times per week. The feses
was hard, small and shaped looked like tiny rocks and was
accompanied with pain.
Since 6 months old, she defecated every 3-4 days  never got
checked by a doctor.
Stomach got bigger because of not having defecated every day, no
vomitus.
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 HISTORY
HISTORY OF PREVIOUS ILLNESS
There was no history of previous illness
 
HISTORY OF ILLNESS IN THE FAMILY
There were no family members suffers with this disease
 

FAMILY TREE

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 PERSONAL / SOCIAL HISTORY

HISTORY OF ANTENATAL CARE

Patient is the second child in the family. Her mother had 9 times antenatal
examinations at primary health care and received two doses of tetanus toxoid
(TT) immunization. During pregnancy, she was healthy and never consumed
any drugs, alcohol, and a non-smoker.
 HISTORY OF LABOR
Patient was born spontaneously, full-term, posterior head presentation, birth
weight was 2.900 grams, birth length was 48 cm, cried immediately. She was
born at primary health centre, and delivery was assisted by a midwife.
According to the mother, there was delayed passage of meconium > 48
hours.

HISTORY OF POSTNATAL
Patient had never experienced yellowish or bluish discoloration of the skin.
She was breastfed well. After born, the patient was taken care along with his
mother . She was routinely brought to primary health care for vaccinations.

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 NUTRITIONAL HISTORY

 The patient was breastfed right after she was born until 6 months
old, then mixed with formula milk until now
 Milk porridge was given at 6 months old
 Soft porridge at 12 months old and continued with family meals,
consists of rice, meat, vegetables and fruits.

 She eats three times a day

 No history of food allergy

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 HISTORY OF IMMUNIZATION

• THE PATIENT RECEIVED BCG WITH SCAR (+) ON

UPPER RIGHT ARM, POLIO FOUR TIMES, DPT
THREE TIMES, HEPATITIS B THREE TIMES,
MEASLES ONCE.

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 DEVELOPMENTAL MILESTONES

GROWTH
Growth and development were routinely examined. But overall, according to
her mother she grew well as the normal children.
 

DEVELOPMENTAL
NORMAL
Patient seemed to be able to sit without help at 6 months old, crawling at 7
months old and walk at 11 months old. She was able to pronounce “mother”
and “father” at 9 months old. According to her parents, her development is
the same as her peers.

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SOCIO ECONOMIC AND ENVIRONTMENT CONDITIONS

Socio-economic
Patient’s father work as a farmer and her mother is a housewife. Healthcare
expenses are covered by national insurance class III.
 

Environment
The patient lives with her family, with roof tile, concrete wall, cement floor.
This house consists of two bedrooms, inhabited by 4 persons (2 adults and 2
children). The bathroom/restroom is inside the house, water source is from
PAM, and electricity source is from the government electric company. Waste
is handled by dumping outside the house.

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 PATIENT’S DATA AND CONDITION AFTER TAKEN AS A CASE REPORT

General condition : looked ill, compos mentis

Anthropometric status NORMAL

Weight : 10 kg
Length : 80 cm
Nutritional status (according to WHO Z-score Weight for Length Girls, age
0-2 years) : Good nutrition

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 PATIENT’S DATA AND CONDITION AFTER TAKEN AS A CASE REPORT

Vital sign:
Blood pressure 90/60 mmHg, pulse 96 bpm (regular, full pulses),
respiratory rate 24 cpm (regular), body temperature 36,5°C (axilla)

Head and Neck

Head : normocephaly, black hair, not easily pluckable
Eye : anemic conjunctiva (-), icteric sclerae (-), round and isochoric pupils,

NORMAL
diameter 3-3 mm, reactive to light, centered eyeballs, clear lenses, normal eye
movements to all directions
Nose : no secretion, nasal flaring (-)
Ears : no secretion
Mouth : no cyanosis, moist buccal mucosa and lips, no tongue papillae atrophy,
no caries dentis
Throat :tonsils T1/T1 not hyperemic, pharynx not hyperemic.
Neck :centered trachea, lymph node enlargement not palpable,
Chest : normal shape, symmetrical chest expansion,no retraction

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 PATIENT’S DATA AND CONDITION AFTER TAKEN AS A CASE REPORT

Heart
Inspection : ictus cordis not visible, no precordial bulging
Palpation : ictus cordis not palpable
Percussion : right border at right parasternal line, left border at left
NORMAL
anterior axilar line, upper border at 3rd left intercostal
Auscultation : heart rate frequency 88 bpm, regular, no murmur
space

Lungs
Inspection : symmetrical movement of breathing
Palpation : symmetrical vocal fremitus
Percussion : normal, symmetrical resonant sounds
Auscultation : vesicular breath sounds, symmetry, no rales, no wheezing

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 PATIENT’S DATA AND CONDITION AFTER TAKEN AS A CASE REPORT

Abdomen
Inspection : distended, no venectation
Palpation : soft, liver and spleen not palpable, scybala palpable
Percussion : tympanic, no ascites.
Auscultation : normo-active bowel sounds.
Vertebrae : deformity (-)
Extremities : warm, no cyanosis, CRT ≤ 2 seconds, eutonia, not spastic
Muscles : normal muscle tone on all four extremities
Neurological status
Reflexes : normal physiological reflexes, no pathological reflexes
Sensory : normal
Motoric : 5 5
5 5

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 PATIENT’S DATA AND CONDITION AFTER TAKEN AS A CASE REPORT

Cranial Nerves Examination :

N I = no olfactory problem
N II = round, isochoric pupils, positives direct and indirect
light reflexes
N III, IV, VI = no strabismus, normal movements of the eyeballs
N V = no problem
NORMAL
N VII = symmetrical nasolabialis sulci, no lagophthalmos
N VIII = no hearing or balance problem
N IX = clear articulations, can swallow well
N X = no disorder
N XI = no disorder
N XII = no tongue deviation

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 ADDITIONAL EXAMINATION

LaboRatory Result :  Radiologic Abdominal X-ray :

Hb : 10.4 g/dL Properitoneal fat line is normal, psoas line
Hematocrit : 33.2% and contour of both renal was covered by
Leukocyte : 10.400/mm3 air of intestine. There is no radioopaque on
Platelets : 402.000/mm3 the line of tractus urinarius. There is
Sodium : 143 mEq/L dilatation focal instestine in the center of
Potassium : 4.47 mEq/L abdomen. Air distribution minimal on the
Chloride : 108.1 mEq/L distal.
Calsium : 9,58 mg/dL Conclussion : dilatation focal intestine in
Ureum : 10 mg/dL the center abdomen diferential diagnosis
Creatinine : 0.2 mg/dL focal inflammation, early ileus.
Suggest : Barium enema examination.

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18
 SUMMARY
Patient was admitted with chief complaint of not having defecated for five days.
She defecates one or two times per week. The feses was hard, small, and shaped
looked like tiny rocks and accompanied with pain. Since 6 months old, she
defecates every 3-4 days. From history of labor, she had delayed passage of
meconium > 48 hours. Her stomach got bigger because of not defecates
everyday, no vomitus and eats normally.

On physical examination upon admission, her weight was 10 kg and height was
80 cm (good nutrition according to WHO Z-score weight for Length girls 0-2
years). Patient looked sick but his awareness was compos mentis.
Physical examination abdomen was distended and scybala palpable

On the laboratory examinations showed Hb 10.4 g/dL, hematocrite 33.2%,

leukocytes 10.400/mm3, platelets 402.000/mm3, Sodium 143 mEq/L, Potassium
4,47 mEq/L, Chloride 108,1 mEq/L, Calsium 9.58 mg/dL

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 SUMMARY
On the Abdominal X-ray : dilatation focal intestine in the center abdomen
Suggestion : Barium enema examination

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PATIENT’S DATA AND CONDITION AFTER TAKEN AS A CASE REPORT

DIAGNOSIS:
Organic Constipation ec suspect Hirschsprung’s
Disease (Q43.1)

PROBLEM
Diagnosis problem : rectal biopsy
Monitoring problem : follow up to monitor defecation pattern

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 MANAGEMENT PLANS

1.. Diagnostic work plan

- Barium enema
- Rectal Biopsy
 
 2. Medical Work Therapy
Evacuation of scybala
Lactulose syrup 2 x 10 ml

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 MANAGEMENT PLANS
Pediatric nutritional care
Nutritional status assessment
A girl, 1 years 11 months old,
Body weight : 10 kg
Height : 80 cm
Nutritional status: good (according to WHO Z-score weight for length Girls
aged 0-2 years old)
 
 
- Nutritional need (according to RDA)
Calory = 102 kcal / kgBW / day = 1020 kcal / day
Protein = 1,23 g / kgBW / day = 12,3 g / day
Fat = 30% x 1020 kcal = 306 kcal/day = 34 g/day
Fiber = 2 + 5 g / day = 7 g / day ( age + 5 g / day)
Fluid = 115-125 ml / kgBW/ day = 1150 - 1250 ml / day
 

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 MANAGEMENT PLANS
o Nutritional route : orally
o Type of food : polymeric
o In the form of : Food 3 times daily (@ 300 kcal, 4
g of protein, 12 g of fats)
Snack 2 times daily (@50 kcal)
Mineral water 1150-1250 mL daily
 Monitoring and Evaluation:
 Acceptability, food tolerance and monitoring of
effectiveness
 Mineral water 1150-1250 mL daily

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 MANAGEMENT PLANS

Counselling plans:
Explanation regarding the disease, treatment, side
effects, prognosis, and long term observation

Monitoring Plan:
 General condition and vital sign monitoring
 Monitoring therapy, evaluation of therapy response,
side effects
 Complication monitoring

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 MANAGEMENT PLANS

Nursing care
• Vital sign monitoring
• Nutrition and growth development
• Patient’s general hygiene
• Hygiene control of parents / caregiver, nurses, and paramedics
• Education to the parents

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 FOLLOW UP

March 13th, 2019 (Observation day 1, 2nd day care).

S: No defecation for 6 days
O:General condition: looked ill, fully alert
Blood pressure: 90/60 mmHg Respiratory rate: 28 cpm Pulse: 88 bpm, Body temperature:
36.5ºC (axilla)
Abdomen :distended, soft, normal bowel sound, liver and spleen not palpable, scybala palpable
Rectal Touche : anal tone was enough, the mucosa was smooth, no palpable mass, empty rectum, no
stool were seen

A: Organic Constipation ec suspect Hirschsprung’s disease (Q43.1)

P : Medications :
Lactulose syrup 2 x 10 ml
Nutritional care :
Solid food three times a day (@300 kcal, 4 g of proteins, 12 g of fats)
Can be given as :
¾ cup of rice, 1 medium slice of chicken without skin, 100 g of spinach, 1 banana
Snack two times a day ( @ 50 kcal) : 1 medium apple
Mineral water = 1150-1250 ml/day
 
Nursing care
Same as before
Plan
Stool examination
Barium Enema (preparation fasting for 8 hours, only drink mineral water)

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 FOLLOW UP

March 14th, 2019 (Observation day 2, 3rd day care).

S: No defecation for 7 days
O:General condition: looked ill, fully alert
Blood pressure: 90/60 mmHg Respiratory rate: 24 cpm Pulse: 84 bpm, Body temperature:
36.8ºC (axilla)
Abdomen : distended, soft, normal bowel sound, liver and spleen not palpable, scybala palpable
Post Barium Enema

A: Organic Constipation ec suspect Hirschsprung’s disease (Q43.1)

P : Medications :
Lactulose syrup 2 x 10 ml
Nutritional care :
Solid food three times a day (@300 kcal, 4 g of proteins, 12 g of fats)
Can be given as :
¾ cup of rice, 1 medium slice of chicken without skin, 100 g of spinach, 1 banana
Snack two times a day ( @ 50 kcal) : 1 medium apple
Mineral water = 1150-1250 ml/day
 
Nursing care
Same as before
Plan
Stool examination
Barium enema after 24 hours

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 FOLLOW UP
March 15th, 2019 (Observation day 3, 4th day care).
S: Defecation last night, consistency was hard, shaped looked like tiny rocks
O:General condition: looked ill, fully alert
Blood pressure: 90/60 mmHg Respiratory rate: 24 cpm Pulse: 88 bpm, Body temperature:
36.8ºC (axilla)
Abdomen : flat, soft, normal bowel sound, liver and spleen not palpable
Stool analysis :
Consistency : solid Helminth : (-)
Color : brown Protozoa : (-)
Erythrocytes : (-) Fungi : (-)
Leucocytes : (-)
Barium Enema :
Give contrast 200 cc through cathether inside the anal. Contrast seen filling rectum, colon, sigmoid and
colon ascendens smoothly. There is narrowing in distal rectum with dilatation on the proximal. There is
no filling defect and extravasation of contrast. After 24 hours, there is still the rest of contrast inside
Conclussion : Hirschsprung’s disease
A: Hirschsprung’s disease (Q43.1)
P : Medications :
Pro consultation to pediatric surgeon to do rectal biopsy
Nutritional care :
Same as before
Nursing care
Same as before
Plan
Consult pediatric surgeon
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 FOLLOW UP

March 16th, 2019 (Observation day 4, 5th day care).

S: Soiling on diapers
O:General condition: looked ill, fully alert
Blood pressure: 90/60 mmHg Respiratory rate: 24 cpm Pulse: 92 bpm, Body temperature:
36.6ºC (axilla)
Abdomen : flat, soft, normal bowel sound, liver and spleen not palpable
Pediatric surgeon : preparation rectal biopsy with general anesthesia

A: Hirschsprung’s disease (Q43.1)

P : Medications :
Pro operation
Nutritional care :
Solid food three times a day (@300 kcal, 4 g of proteins, 12 g of fats)
Can be given as :
¾ cup of rice, 1 medium slice of chicken without skin, 100 g of spinach, 1 banana
Snack two times a day ( @ 50 kcal) : 1 medium apple
Mineral water = 1150-1250 ml/day
 
Nursing care
Same as before
Plan
Rectal biopsy (waiting for parent consent)

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 FOLLOW UP

March 17th, 2019 (Observation day 5, 6th day care).

S: No defecation
O:General condition: looked ill, fully alert
Blood pressure: 90/60 mmHg Respiratory rate: 26 cpm Pulse: 90 bpm, Body temperature:
36.5ºC (axilla)
Abdomen : distended, soft, normal bowel sound, liver and spleen not palpable

A: Hirschsprung’s disease (Q43.1)

P : Medications :
Pro operation
Nutritional care :
Solid food three times a day (@300 kcal, 4 g of proteins, 12 g of fats)
Can be given as :
¾ cup of rice, 1 medium slice of chicken without skin, 100 g of spinach, 1 banana
Snack two times a day ( @ 50 kcal) : 1 medium apple
Mineral water = 1150-1250 ml/day
 
Nursing care
Same as before
Plan
Preparation Rectal biopsy

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 PROGNOSIS

• Ad Vitam : Dubia Ad Bonam

• Ad Functionam : Dubia Ad Bonam
• Ad Sanationam : Dubia Ad Malam

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 CASE ANALYSIS

Constipation

two or fewer stools per week or passage of hard,

pellet-like stools for at least 2 weeks

In this case, the patient have 1 stools per week and

accompanied with pain
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 CASE ANALYSIS

Constipation prevalence varies from 0,7% to 29,6%.

Indonesia 18,3% slighty higher than Western.

The peak incidence : toilet training (age 2-4) although

prevalence remains high throughout childhood and into adult
life
Infants : 4 stools per day during the first week of life.
2 years : 1,7 stools per day
4 years : 1,2 stools per day. After 4 years, the frequency of bowel
movements remains unchanged  In this case, The patient doesn’t
defecate every day
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 CASE ANALYSIS
Causes and Risk Factors of Constipation in children
Intestinal causes Hirschprung disease
  Anorectal Malformation
  Neuronal intestinal dysplasia
Metabolic / endocrine causes Hypothyroidism
  Diabetes mellitus
  Hypercalcemia
  Hypokalemia
  Vitamin D intoxication
Drugs Opioids
  Anticholinergics
  Antidepressants
Other causes Anorexia nervosa
  Sexual abuse
  Scleroderma
  Cystic fibrosis
  Low fiber diet
  Psychological stress
  Cow’s milk protein allergy
  Familial predisposition

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 CASE ANALYSIS

Hirschsprung’s Disease (HD) = congenital megacolon =

congenital colonic aganglionosis

Developmental disease characterized by absence of

ganglion cells in submucosal (Meissner’s) and
myenteric (Aurbach’s) plexuses in distal bowel
extending proximally for variable distances

Intestinal obstruction caused by dysmotility of the diseased segment

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 CASE ANALYSIS

Cause : multifactorial, can familial or develop

spontaneously

Caused by the failure of ganglion cells to migrate cephalocaudally

through the neural crest during fourth to 12 weeks of gestation,
causing an absence of ganglion cells in all or part of the colon

Incidence 1:5000 live births

Male to female ration 4:1

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 CASE ANALYSIS

Cardinal symptom : delayed passage of meconium

Neonate leaves without diagnosis  chronic constipation within

two years

Constipation appear accompanies a dietary change

Physical findings : abdominal distension

Rectal examination : a spastic rectum with little or no stool since
the stool bolus is high and beyond the examining finger

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 CASE ANALYSIS

- The patient had delayed passage of

meconium > 48 hours after birth.
- When the patient still a neonate, the patient
In this
left the hospital without any symptoms, but
case after the patient got additional food and
formula milk, there was constipation problem.
- The patient had a physical findings which is
abdominal distension and the rectal
examination showed no stool.

44
 CASE ANALYSIS

Diagnosis of HD :
- Clinical history
- Radiologic studies
- Anorectal manometry
- Histological examination of rectal biopsy 

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 CASE ANALYSIS

Barium enema :

barium flow from the undilated rectum through a cone-shaped

transitional zone into dilated colon

the most important view is the lateral projection, in

which a rectal transition zone will be most evident

Other findings on the contrast enema that are suggestive of

Hirschsprung disease include a reversed recto-sigmoid index and
retention of contrast in the colon on a 24-hour postevacuation film

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 CASE ANALYSIS

In this
- there was a transition zone from the dilated
case on proximal to narrowed in distal rectum and
after 24 hours, there was still the rest of
contrast inside

Hirschsprung’s Disease

47
 CASE ANALYSIS

Rectal Biopsy

The definitive finding that defines HD is absence of

ganglion cells in the submucosal and myenteric plexuses.
Most patients will also have evidence of hypertrophied
nerve trunks, although this finding is not always present

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 CASE ANALYSIS

Treatment : Surgery

The classic surgical : multiple stage procedure  colostomy in the

newborn period, followed by a definitive pull-through operation.

Goals : to remove the aganglionic bowel and reconstruct the intestinal

tract by bringing the normally innervated bowel down to the anus
while preserving normal sphincter function
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 CASE ANALYSIS

Some surgeons : nonoperative long-term management of

short-segment Hirschsprung disease using enemas and
laxatives

However, these techniques do not provide a good quality of life

for most children with Hirschsprung disease, and most pediatric
surgeons recommend a pull-through procedure

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 CASE ANALYSIS

In a further long-term evaluation :

bowel function was normal in 68%, whereas 10,3% had soiling

and 21,7% required laxatives or enemas for resistant constipation

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 CASE ANALYSIS

Msomi MS et al:
a retrospective audit of all contrast enemas and rectal biopsies performed on patients
aged 0-12 years for the clinical suspicion of HD. A total of 54 such patients were
identified. Diagnostic accuracy levels were calculated by comparing radiological
results with histology results, which is the gold standard. Diagnostic accuracy of
contrast enema was 78%, sensitivity was 94,4%, specificity 68,8%, and positive
predictive values 63%. In terms of radiological features, the presence of Reversed
recto-sigmoid ratio and a transitional zone each significantly increased the chances of
testing positive for the disease (OR 3.4, 95% CI 0.6-18.4 for RRSR and OR 4.5, 95%
CI 0.9-22.3)

Level of evidence 2B, recommendation B

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 CASE ANALYSIS

Alehossein M et al:
in a cross-sectional study, from 55 patients, 36 (65,4%) cases had HD and 19 (34,6%)
were without HD. In HD of each contrast enema findings, the most common is
Transitional zone with sensitivity 94,4%, specificity 68,4%, accuracy 85,4%, positive
predictive value 85%, and negative predictive value 86,7% .

Level of evidence 2B, recommendation B

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 CASE ANALYSIS

Peyvasteh M et al:
cross sectional study from 60 patients in one year. Transitional zone, delay in Barium
evacuation after 24 h, rectosigmoid index (maximum width of the rectum divided by
maximum width of the sigmoid; abnormal if <1), and irregularity of mucosa
(jejunization) were evaluated in barium enema. Frequency of Transitional zone
findings on Barium enema in subjects with HD is 27(90%). The most sensitive finding
was transitional zone with specificity 80% (95% CI 61.42%-92.24%) and sensitivity
90% (95% CI 73.44%-97.77%).

Level of evidence 2B, recommendation B

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 CASE ANALYSIS

Singh CD and Baruah RR:

a prospective observational study from February 2014 to January 2016. 54 case were
included in study, 44 patients were HD and 81,5% were detected by radiological
examination Barium enema. The radiographic transition zone and the histologic
transition zone generally coincide in the classic rectosigmoid HD and the surgeon who
solely depends on the contrast enema for deciding the level of colostomy/pull through
without a histopathological intraoperative levelling will still be correct in his
management in the majority

Level of evidence 2B, recommendation B

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