definition, clinical manifestation, diagnostic evaluation, medical and surgical management , nursing interventions

1. CARE OF CLIENT
WITH
HIRSCHSPRUNG’S DISEASE
AMRITA A.S
ASSISTANT PROFESSOR

2. Introduction
 Hirschsprung disease, congenital
aganglionic megacolon is a developmental
disorder of the enteric nervous system and is
characterized by an absence of ganglion cells
in the distal colon resulting in a functional
obstruction.
 Enlargement of the colon, caused by bowel
obstruction that starts at the anus and
progresses upwards.

3. Introduction
 Described by Ruysch in 1691
 Popularized by Hirschsprung in 1886,
 Pathophysiology, Whitehouse & Kernohan,
the aganglionosis of the distal intestine as the
cause of obstruction, the middle of the 20th
century.

4. Related Anatomy
 Ascending colon
 On the right side of the abdomen, 25 cm.
 Cecum to the hepatic flexure.
 Parasympathetic fibers of Vagus nerve (CN X),
 Ileocolic artery and right colic artery, both branches of the
Superior Mesenteric Artery.
 Transverse colon
 Part of the colon from the hepatic flexure to the splenic
flexure.
 The proximal two-thirds :-the middle colic artery, branch of
superior mesenteric artery,
 the latter third:- branches of inferior mesenteric artery.

5. Related Anatomy
 Descending colon
 Splenic flexure to the beginning of the sigmoid colon.
 Store matter that will be emptied into the rectum.
 The left colic artery.
 Sigmoid colon
 After the descending colon and before the rectum.
 S-shaped.
 Muscular, and contract to increase the pressure inside the
colon, causing the stool to move into the rectum.
 Sigmoid arteries, a branch of the Inferior Mesenteric Artery.

6. Pathophysiology
 Enteric ganglion cells are derived from the neural
crest.
 During normal development, neuroblasts will be
found in the small intestine by the 7th week of
gestation and will reach the colon by the 12th week
of gestation.

7. Pathophysiology
 Three neuronal plexus
 The sub mucosal (ie, Meissner) plexus,
 The intermuscular (ie, Auerbach) plexus,
 The smaller mucosal plexus.
 Normal motility is primarily under the control of
intrinsic neurons.
 Control both contraction and relaxation of smooth
muscle.
 Extrinsic control is mainly through the cholinergic
and adrenergic fibers. The cholinergic fibers cause
contraction, and the adrenergic fibers mainly cause
inhibition.

8. Pathophysiology
Defect in the
migration of
neuroblasts to
the distal
intestine
.
Failure of
neuroblasts to
survive,
proliferate, or
differentiate.
Smooth muscle
cells of
aganglionic
colon are
electrically
inactive Abnormalities in
pacemaker cells
connecting enteric
nerves & intestinal
smooth muscle

9. Pathophysiology
 Aganglionosis begins with the anus, which is
always involved, and continues proximally for
a variable distance.
 Myenteric (Auerbach) plexus & submucosal
(Meissner) plexus are absent, reduced bowel
peristalsis & function.

10. Pathophysiology
Imbalance of smooth muscle contractility, uncoordinated peristalsis, and
a functional obstruction
The adrenergic system predominate over the cholinergic system, an
increase in smooth muscle tone.
Innervation of both (cholinergic system & adrenergic system) is 2-3
times of normal innervation.
Marked increase in extrinsic intestinal innervation.
Ganglion cells are absent

12. Frequency
 1 case per 1500 newborns to 1 case per 7000
newborns.

13. Frequency
 Sex
 M>F; M:F=4:1.
 However, with long-segment disease, the incidence
increases in females.
 Age
 Uncommon in premature infants.
 Approximately 90% of patients with Hirschsprung
disease are diagnosed in the newborn period.

14. Mortality/Morbidity
 Approximately 20% of infants have one or more
associated abnormality (neurological,
cardiovascular, urological, or gastrointestinal
system).
 Hirschsprung disease has been found to be
associated with Down syndrome
 Untreated aganglionic megacolon in infancy may
result in a mortality rate of as much as 80%.
 In cases of treated Hirschsprung disease, the
mortality rate may be as high as 30% as a result of
enterocolitis.

15. Clinical presentation
 Newborn with delayed passage of meconium
 Any child with a history of
chronic constipation since birth with
 Ribbon like stool
 Foul smelly stool.
 Bowel obstruction with bilious vomiting,
 Abdominal distention,
 Poor feeding
 Failure to thrive.
 About 10% diarrhea caused by enterocolitis
 Colonic perforation,
 Sepsis
 vomiting.

16. Physical presentation
 Distended abdomen
 Inability to release flatus
 An empty rectum on digital rectal examination
 Rectal impaction
 Rapid expulsion of feces after rectal
examination

17. Diagnosis:-
 H/o failure to pass meconium within 24-48 hours after
birth.
 Plain abdominal radiographs may show distended
bowel loops with a paucity of air in the rectum.
 Barium enema
 The catheter is placed just inside the anus
 Contrast injected into the anus
 Radiographs are taken immediately after hand injection of
contrast and again 24 hours later.
 A narrowed distal colon with proximal dilation is the classic
finding of Hirschsprung disease after a barium enema.
 Retention of contrast for longer than 24 hours after the
barium enema has been performed.

18. Barium enema

19. Diagnosis:-
 Anorectal manometry
 Anorectal manometry detects the relaxation reflex of
the internal sphincter after distension of the rectal
lumen. This normal inhibitory reflex is thought to be
absent.
 Rectal biopsy
 The definitive diagnosis of Hirschsprung disease is
confirmed by rectal biopsy, i.e., findings that indicate an
absence of ganglion cells.
 Hypertrophied nerves in that area.
 Full-thickness rectal biopsy.
 The specimen must be obtained at least 1.5 cm above
the dentate line because aganglionosis may normally
be present below this level.
 Bleeding and scarring and need for GA.

20. Diagnosis:-
 Simple suction rectal biopsy
 Rectal mucosa and submucosa are sucked into the
suction device, and a self-contained cylindrical knife
cuts off the tissue.
 Can be easily performed at the bedside.
 Laboratory Studies
 Chemistry panel: dehydration(diarrhea).
 CBC count: preoperative hematocrit and platelet
count.
 Coagulation studies: clotting disorders are
corrected before surgery.
 Because cardiac malformation (2-5%) and Trisomy
21 (5-15%) are associated with congenital
aganglionosis, cardiac evaluation and genetic
testing may be warranted.

21. Differential Diagnoses:-
 Constipation,
 Hypothyroidism,
 Irritable Bowel Syndrome,
 Anorectal malformations
 Intestinal atresias or stenosis
 Intestinal malrotation
 Meconium blockage syndrome
 Neuronal intestinal dysplasia
 Prematurity
 Small left colon syndrome
 Micro colon
 Sepsis
 Cystic fibrosis

22. TREATMENT

23. Medical Care
 The general goals of medical care are 3-fold
1. To treat the complications of unrecognized or
untreated Hirschsprung disease,
2. To institute temporary measures until definitive
reconstructive surgery can take place,
3. To manage bowel function after reconstructive
surgery.

24. Medical Care
 Management of complications
 Reestablishing normal fluid and electrolyte balance,
 Preventing bowel over distension,
 Managing sepsis.
 Intravenous hydration, nasogastric
decompression, administration of intravenous
antibiotics remain the cornerstones of initial
medical management.
 Colonic lavage, consisting of mechanical irrigation
with a large-bore rectal tube and large volumes of
irrigant, may be required.
 Balanced salt solutions may help prevent electrolyte
imbalances.

25. Medical Care
 Nasogastric decompression, intravenous
fluids, antibiotics, and colonic lavage may also
need to be used in postoperative patients who
develop enterocolitis as a complication.
 Sodium cromoglycate
 Routine colonic irrigation and prophylactic
antibiotic therapy
 Injecting the non relaxing internal sphincter
mechanism with botulinum toxin has been
shown to induce more normal patterns of
bowel movements in postoperative patients
with enterocolitis.

26. Medical Care
 Medications
SNo Drug Dosage
Adult Pediatric
1 Ampicillin 1-2 g IV q6h 25 mg/kg IV q6h
2 Gentamicin 5-7 mg/kg/d IV 2.5 mg/kg IV q8h
3 Metronidazole 500 mg PO/IV q6-8h 7.5 mg/kg IV q6h

27. Medical Care
 Toxins
 Induce more normal patterns of bowel movements in
postoperative patients with enterocolitis.
 Botulinum toxin type A: - Binds to receptor sites
on motor nerve terminals and inhibits release of
acetylcholine, which in turn inhibits transmission of
impulses in neuromuscular tissue.
 Adult
 1.25-2.5 U IM; may repeat after 3-4month
 Pediatric
 >12 years: Administer as in adults
<12 years: 0.25-1 U IM; may repeat after 3-4month

28. Surgical Care
1. Diverting colostomy at the time of diagnosis
2. Once the child grows and weighs more than 10
kg, the definitive repair is performed.
 In 1949, Swenson described the first consistent
definitive procedure for Hirschsprung disease,
rectosigmoidectomy with coloanal
anastomosis. Since then, other operations have
been described, including the Duhamel and Soave
techniques.

29. Surgical Care
 For neonates who are first treated with a diverting
colostomy, the transition zone is identified and the
colostomy is placed proximal to this area. The
presence of ganglion cells at the colostomy site
confirmed by a frozen-section biopsy.
 The 3 most commonly performed definitive repairs
are the Swenson, Duhamel, and Soave procedures
(The Pull-through Procedure).

31. Pull Through

32. Swenson’s operation

33. Surgical Care
 Swenson procedure
 The Swenson procedure was the original pull-
through procedure used to treat Hirschsprung
disease.
 The aganglionic segment is resected down to
the sigmoid colon and the remaining rectum,
and an oblique anastomosis is performed
between the normal colon and the low rectum.

34. Duhamel’s operation

35. Duhamel’s operation

36. Surgical Care
 Duhamel procedure
 The Duhamel procedure was first described in 1956
as a modification to the Swenson procedure.
 Key points are that a retrorectal approach is used
and a significant portion of aganglionic rectum is
retained.
 The aganglionic bowel is resected down to the
rectum, and the rectum is over sewn. The proximal
bowel is then brought through the retrorectal space
(between the rectum and sacrum), and an end-to-
side anastomosis is performed on the remaining
rectum.

37. Soave’s operation

38. Surgical Care
 Soave (endorectal) procedure
 The Soave procedure was introduced in the 1960s
and consists of removing the mucosa and
submucosa of the rectum and pulling the ganglionic
bowel through the aganglionic muscular cuff of the
rectum.
 The original operation did not include a formal
anastomosis, relying on scar tissue formation
between the pull-through segment and the
surrounding aganglionic bowel. The procedure has
since been modified by Boley to include a primary
anastomosis at the anus.

39. Surgical Care
 Anorectal myomectomy
 For children (and occasionally adults) with ultra
short-segment Hirschsprung disease, removing a
strip of posterior midline rectal wall is an alternative
surgical option.
 The procedure removes a 1-cm wide strip of extra
mucosal rectal wall beginning immediately proximal
to the dentate line and extending to the normal
ganglionic rectum proximally.
 The mucosa and submucosa are preserved and
closed.

40. Complications
 Postoperative enterocolitis with the Swenson
procedure,
 Constipation following the Duhamel repair,
 Diarrhea and incontinence with the Soave pull-
through procedure.
 Anastomosis leakage and stricture formation (5-
15%),
 Intestinal obstruction (5%),
 Pelvic abscess (5%),
 Wound infection (10%),
 Wound dehiscence and incomplete resection
requiring re-operation (5%).

41. Complications
 Stomal complications, such as prolapse or stricture.
 Rectovesical fistulas
 Mechanical obstruction
 Persistent aganglionosis
 Motility disorders
 Internal sphincter achalasia may result in persistent
obstruction. This can be treated with internal
sphincterotomy, intrasphincteric botulinum toxin, or
nitroglycerin paste. Most cases will resolve by the age
of 5 years.

42. Complications
 Functional megacolon may be present due
to stool-holding behavior.
 Incontinence may be the result of abnormal
sphincter function, decreased sensation, or
overflow incontinence secondary to
constipation.

43. Prognosis
 As expected, patients with associated trisomy 21
tend to have poorer clinical outcomes.
 In general, more than 90% of patients with
Hirschsprung disease have satisfactory outcomes
 Although many patients may have disturbances of
bowel function for several years before developing
normal continence.

44. NURSING
MANAGEMENT

45. Assessment:-
History:-
 Family history
 General
 Feeding habits (poor)
 Fussiness
 Irritability
 Distended abdomen
 Signs of under nutrition (pallor, muscle weakness, fatigue)
 Bowel habits of the neonate or child
 Frequency of the bowel movement
 Character of stool
 Onset of constipation (ribbon like, foul smelly)
 Medical history
 Clinical presentation

46. NURSING DIAGNOSIS
 Fluid electrolyte imbalance
 Altered bowel pattern
 Potential to develop complications related to the
disease condition & surgery
 Altered nutritional pattern
 Altered self body image related to the colostomy
 Knowledge deficit of the parent related to the
disease condition
 Feeding modifications related to GI surgery
 Abdominal distension related to obstruction

47. NURSING INTERVENTIONS
Preoperative preparation
 Informed consent
 Consent to be taken from the parents of the infant or
the legal guardians
 Nutritional status:-
 A child who is malnourished may not be able to
withstand the surgery until the physical status
improves.
 Low-fiber, high-calories & high protein diet is given
 In severe cases of malnutrition, total parental nutrition
can be given

48. NURSING INTERVENTIONS
Psychological preparation
 Explain the disease properly to the parents
 Use charts, diagrams & models to explain the problem
in the working of the bowel
 Demonstrate pictorially the surgical procedure
 Older child is to be prepared emotionally for a
colostomy
 Because the colostomy represents a change in the body
function, the nurse should investigate the care giver’s
previous knowledge of the procedure
 Family members may have misconceptions regarding
the colostomy.
 Temporary colostomy also indicates that a future
surgery will be done to close it. So the capabilities of the
parent to afford it at that time need to be seen.

49. NURSING INTERVENTIONS
Bowel preparation
 No need to prepare bowel in newborn as the gut
is sterile
 Patient is kept on NG to administer GoLYTELY to
empty the bowel & to administration of systemic
antibiotics & rectal irrigation
 The rule of 8-6-4-2 is followed that is nothing solid
8hr before surgery, no formula 6hr before surgery,
no breastfeeding 4hr before surgery & nothing at
all 2hr before surgery.

50. NURSING INTERVENTIONS
Diet
 The patient should have nothing by mouth
before the operation.
 Institute tube feeding or formula/breast milk
once bowel function resumes.
 High-fiber diets and diets containing fresh
fruits and vegetables may optimize
postoperative bowel function in certain
patients.

51. NURSING INTERVENTIONS
Ongoing management
 Because progressive distension of the
abdomen is a serious sign, abdominal
circumference is measured with a paper tape
measure at the largest diameter, usually at
the level of the umbilicus.
 The point of measurement is marked with pen
to ensure its reliability

52. NURSING INTERVENTIONS
Postoperative management:-
 The infant is given nothing by mouth & have NG tube to
suction.
 Intake & output, including NG tube lose & stool from the
ostomy are measured.
 To prevent contamination of the wound with urine of the baby,
the diaper must be pinned below the dressing or urethral
catheterization can be done.
 IV fluids are given to maintain adequate hydration &
electrolyte balance
 An abdominal assessment, including monitoring of return of
bowel sounds & passage of stool, will indicate when oral
feeding can be started.

53. NURSING INTERVENTIONS
Postoperative management :-
 Regular colostomy care to be done following aseptic guidelines.
 Ongoing education of the older child & care givers regarding
ostomy care begins with preparation for their discharge.
 The nurse should explain the function of each piece of
equipment, stressing features that permit the child to be safely
moved & handled, such as length of tubing, use of arm boards
& IV site & tape to secure NG tube to the nose.
 Parents should be encouraged & assisted in holding &
comforting their child.
 Involve the child & the parents in the dressing change, as this
will increase their confidence & will also help in the acceptance
of the ostomy by the child & parents

54. NURSING INTERVENTIONS
Postoperative management:-
 Explain them about the procedure of skin care & change
of appliance & the frequency of care, control of order, sign
of complications (ribbon like stool, excessive diarrhea,
bleeding, prolapsed, failure to pass flatus or stool)
 If enterostomal therapist is available, then refer the
parents to him for expert assistance in planning home
care
 Sometimes families require financial assistance &
additional psychological support. So refer the parents to
social worker
 A referral to home health care agency for home nursing
visits can meet the need of additional supervision of care,
reinforcement of child & parent’s education & support.

55. NURSING INTERVENTIONS
Activity
 Limit physical activity for about 6 weeks to allow the wound to heal
properly (applies more to older children).
Follow-up
Further Inpatient Care
 If a diverting colostomy is created in a newborn, he or she must
remain in the hospital until the ostomy is functioning and feeding
goals are obtained. Feedings are usually initiated 24-48 hours after
the creation of the colostomy.
 After the definitive pull-through procedure is performed, the patient is
hospitalized until full feedings are possible and evidence of the return
of bowel function is obtained. Patients are to take nothing by mouth,
with intravenous fluid hydration until they pass flatus or have a bowel
movement. Once this occurs, clear liquids may be started, and the
diet may be advanced until feeding goals are obtained. Intravenous
antibiotics are also continued until evidence of proper bowel function
is observed.

56. NURSING INTERVENTIONS
Further Outpatient Care
 After a definitive pull-through procedure is
performed, normal growth and development
should ensue.
 Patients should be monitored for normal bowel
habits. Patients with no other underlying disorders
and no postoperative complications should
develop normal bowel habits. However, such
habits may not develop until the patient is older.

57. Summary
 Introduction to HD
 Anatomy physiology related to HD
 Incidence
 Pathophysiology of HD
 Sign & symptoms of HD
 Diagnosis & differential diagnosis
 Management
 Medical
 Surgical
 Nursing

58. THANK YOU