Hirschsprung disease is a birth defect where certain nerve cells in the colon are absent, preventing normal bowel function. This causes stool to become trapped, enlarging the colon. Symptoms in newborns include abdominal distension, vomiting, and failure to pass meconium. Diagnosis involves biopsy and testing for nerve cells. Treatment is initially decompression and antibiotics, followed by surgery to remove the affected colon segment. After surgery, most children achieve normal bowel function, though some may have complications like soiling or stricture.

1. Kawther Alsadady
Hirschsprung disease

2. • Definition
• Hirschsprung's disease, also known as
congenital megacolon or aganglionic
megacolon, is an abnormality in which
certain nerve fibers are absent in
segments of the bowel, resulting in
severe bowel obstruction.
•

3. Description
• Hirschsprung's disease is caused when certain nerve cells
(called parasympathetic ganglion cells) in the wall of the large
intestine (colon) do not develop before birth.
• Without these nerves, the affected segment of the colon lacks
the ability to relax and move bowel contents along.
• This causes a constriction and as a result, the bowel above the
constricted area dilates due to stool becoming trapped,
producing megacolon (enlargement of the colon).
• The disease can affect varying lengths of bowel segment, most
often involving the region around the rectum. In up to 10
percent of children, however, the entire colon and part of the
small intestine are involved

6. Pediatric Hirschsprung Disease Clinical
Presentation
• 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.

7. Continue…
• 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.

8. Always remember !

9. Diagnosis work
up
Laboratory Studies
CBC count: Order this test if
enterocolitis is suspected.
Elevation of WBC count or a
bandemia should raise concern
for enterocolitis.

10. • “Bandemia” is the term used to describe too many
white blood cells being released by bone marrow into
the bloodstream. When this occurs, it’s usually an
indication that an infection or some inflammation is
present.
• Measurement of bandemia can help your doctor decide
how to approach certain illnesses.
• Understanding band cell count
• Band cells are an immature form of neutrophils, which
are the most commonly produced white blood cell.
They are essential for fighting disease. That’s why your
body produces them in excess during an infection.
• A normal band cell countTrusted Source is 10 percent
or less. A high band count could provide an early
suggestion that a serious infection is present. People
who have very low band cell counts could be at
increased risk of infections developing.

11. Imaging Studies
• Plain abdominal radiography: Perform this test with
any signs or symptoms of abdominal obstruction.
Abdominal radiograph
demonstrating small bowel
obstruction and megacolon in
infant with Hirschsprung
Disease

12. Barium enema
demonstrating transition
zone. The transition zone
shows the transition from
dilated, normally innervated
bowel to normal caliber,
noninnervated bowel.

13. Other Tests
(Rectal
manometry)
In older children who present with
chronic constipation and an atypical
history for either Hirschsprung disease
or functional constipation, anorectal
manometry can be helpful in making or
excluding the diagnosis.
Children with Hirschsprung disease fail
to demonstrate reflex relaxation of the
internal anal sphincter in response to
inflation of a rectal balloon.

14. Rectal manometry

16. Procedures
• The definitive diagnosis of Hirschsprung disease rests on histological review of
rectal tissue.
• Obtain tissue either by suction rectal biopsy or transanal wedge resection. If a
suction biopsy is performed, take the biopsy 2-2.5 cm above the dentate line on
the posterior wall to minimize the risk of perforation.
• Carefully examine biopsy specimens for the presence or absence of ganglion
cells in the submucous plexus (suction rectal biopsy) or myenteric plexuses
(transanal wedge resection).
• In the hands of an experienced pathologist, the resulting biopsy and absence of
ganglion cells confirm the diagnosis and allow the initiation of treatment. Skip
lesions of aganglionosis have been reported in cases of Hirschsprung disease.
• Acetylcholinesterase staining of the tissue can be performed to assist with the
pathologic assessment. Acetylcholinesterase staining identifies the hypertrophy
of extrinsic nerves trunks. In short-segment Hirschsprung disease, the diagnosis
can be made with a properly placed rectal suction biopsy alone or in
combination with anorectal manometry

18. Histologic Findings

20. Management of Hirschsprung disease
• Medical Care
• If a child with Hirschsprung disease has symptoms and signs of a high-
grade intestinal obstruction, initial therapy should include intravenous
hydration, withholding of enteral intake, and intestinal and gastric
decompression.
• Decompression can be accomplished through placement of a
nasogastric tube and either digital rectal examination or normal saline
rectal irrigations 3-4 times daily.
• Administer broad-spectrum antibiotics to patients with enterocolitis.
• Immediately request surgical consultation for biopsy confirmation and
treatment plan.
• While awaiting surgical intervention in the event of a planned single-
stage pull-through procedure, the baby should receive scheduled
vaccinations

21. Surgical Care• The surgical options vary according to the patient's age, mental
status, ability to perform activities of daily living, length of the
aganglionic segment, degree of colonic dilation, and presence of
enterocolitis.
• Surgical options include leveling colostomy, which is a colostomy at
the level of normal bowel; a staged procedure with placement of a
leveled colostomy followed by a pull-through procedure; or a single-
stage pull-through procedure.
• The single-stage pull-through procedure may be performed with
laparoscopic, open, or transanal techniques. This procedure can be
performed at the time of diagnosis or after the newborn has had
rectal irrigations at home and has passed the physiologic nadir.
• Colostomy followed by pull-through procedure is generally reserved
for those patients who present with sepsis due to enterocolitis,
massive distention of ganglionic bowel prohibiting pull-through
procedure, or are otherwise not medically suitable for the pull-
through procedure

23. Medication Summary
• The goals of pharmacotherapy are to eradicate infection,
to reduce morbidity, and to prevent complications.
• Immediately after the diverting colostomy is created or a
definitive pull-through procedure is performed, patients
often remain on broad-spectrum intravenous antibiotics
(eg, ampicillin, gentamicin, and metronidazole) until
bowel function has returned and feeding goals are
achieved.
• After a definitive pull-through procedure is performed and
normal bowel function is obtained, no additional
medication is required.

24. • Gastrointestinal Tract Infections
• <40 kg: 50 mg/kg/day IV/IM divided q6-8hr
• ≥40 kg: 500 mg IV/IM q6hr;
• larger doses may be necessary in severe or
chronic infection

25. Further Outpatient Care
• Prior to surgical intervention in patients with Hirschsprung
disease, perform close follow-up care to be sure the colon
is adequately decompressed and that signs or symptoms of
enterocolitis do not develop. Teach the family techniques of
decompression and rectal irrigation because these
therapies aid in decreasing colonic dilation in preparation
for surgery.
• Preoperatively, counsel the family as to the available
surgical options. If the child is to undergo a staged
procedure or have a permanent ostomy, provide
preliminary instruction about ostomy care to the family.
• Postoperatively, patients need close follow-up care to
assess healing as well as a screen for potential
complications (eg, stricture formation).

27. •
Complications
• Postoperative complications may include intermittent fecal
soiling and incontinence, anastomotic leak, stricture
formation, intestinal obstruction, and enterocolitis
• Prognosis
• The outcome in infants and children with Hirschsprung
disease is generally quite good. Most children obtain fecal
continence and control. However, children with other
significant comorbidities, such as major genetic
abnormalities, may have lower rates of continence

28. References
• https://emedicine.medscape.com/
• http://www.healthofchildren.com/
• https://www.omicsonline.org/
• http://www.childrenshospital.org/

29. Any Q