pathophysiology and management of hirschsprung's disease

1. HIRSCHSPRUNG’S
DISEASE
DR. MOCHAMAD SYAHRONI
FARDIANSYAH

2. Introduction
 1887 – description on postmortem by
Hirschsprung
 1901 – histologic absence of ganglionic cells
described
 1896 – surgery for left colectomy and pull-
through
 1940’s – Swenson developed pull-through
technique

3. Definitions
 Congenital Megacolon
 Absence of myenteric (Auerbach’s) and
submucosal (Meissner’s) parasympathetic
ganglion cells = aganglionic segment
 Distal alimentary tract (Colorectal Region)
Extends continuously for a variable distance
proximal to the internal anal sphincter
 Decreased motility in the affected bowel
segment

4. Pathophysiology
 Ganglion cells derived from neuroblasts from neural crest
 Ganglion cells, which are derived from the neural crest, start
from pharing migrate caudally with the vagal nerve fibers
along the intestine.
 Seen in Auerbach’s plexus
 Afterwards seen in Henle’s and Meissner’s plexus
 Then neuroblasts mature into ganglion cells
 ganglion cells arrive in the proximal colon by 8 weeks of
gestational age and in the rectum by 12 weeks of
gestational age.
 Arrest in migration leads to an aganglionic segment.

5. Normal VS Hirschsprung’s

6. Pathophysiology
 Maturation from cephalad to caudad and from Auerbach’s to
Meissner’s plexus
 Maturation process not complete at birth
 Halting of migration or local microenvironment doesn’t allow
maturation
 Not known how pelvic neuroblasts migrate
 Other possible etiologies
 Abnormal maturation of neuroblasts
 Immunologic destruction of ganglion cells
 Abnormal function of aganglionic bowel
 Etiology largely unknown
 Absence of progression of peristalsis
 Inability of internal sphincter to relax with rectal distention

7. Hirschsprung’s disease

8. Hirschsprung’s disease
Frequency
 Hirschsprung’s disease is the most common cause of lower
intestinal obstruction in neonates.
 approximately 1 per 5000 live births.
 Sex: 4 times more common in males than females.
 Age:
 Nearly all children with Hirschsprung disease are diagnosed during the first
2 years of life.
 one half are diagnosed before they are aged 1 year.
 Minority not recognized until later in childhood or adulthood.
 Mortality/Morbidity:
 The overall mortality of Hirschsprung enterocolitis is 25-30%, which
accounts for almost all of the mortality from Hirschsprung disease.

9. Associated Anomalies
 HD is usually a solitary anomaly in a full term, otherwise healthy infant
 Associated anomalies do occur in nearly 20% of cases
 urogenital system (11%)
 cardiovascular system (6%)
 gastrointestinal system (6%),
 with 8% having various other malformations
 Prematurity is reported in as many as 10% of those children with HD
 Trisomy 21 occurs in approximately 5% of cases

10. Associated Anomalies
Syndromic anomalies
 Shah-Waardenburg (regional hyperpigmentation, white
forelock, bicolored irides, sensorineural deafness)
 Movat-Wilson (characteristic facies, microcephaly,
mental retardation)
 Smith-Lemli-Opitz (anteverted nostrils, ptosis of eyelids,
syndactyly of 2nd and 3rd toes, hypospadias and
cryptorchidism)
 Congenital central hypoventilation
 Syndromes with limb abnormalities (metaphyseal
dysplasia, McKusick-type—mild bowing of legs, irregular
metaphyses, fine sparse hair)
 MEN II (medullary thyroid cancer, pheochromocytoma,
parathyroid hyperplasia)
 Piebaldism (hypopigmentation of skin and hair)

11. Type of Aganglionic Megacolon
1. Congenital : This type is the commonest one .
 Etiology of the disease is still unknown.but Genetic factors are now
identified.
 10
% of cases have familial history, especially those with long
segment disease.
2. Acquired :
Degeneration of the ganglions may occur due to:
-Vascular causes like after pullthrough procedure due to
ischemia & tension.
- Non vascular causes like
Trypanosoma (chaga's disease).
Vit B1 def.
Chronic infection ( TB.).

12. Classification
 It may extend up to the splenic flexure or even
more proximally, involving the entire colon, as
well as portions of the small intestine (long-
segment Hirschsprung's disease)
 It may be restricted to the rectum and sigmoid
(short-segment Hirschsprung's disease)
 It may involve only a few centimeters proximal
to the dentate line (ultra-short-segment
Hirschsprung's disease)

13. Classification
 Classical HD (75% of cases): Rectosegmoid
 Long segment HD (20% of cases)
 Total colonic aganglionosis (3-12% of cases)
 rare variants include the following:
 Total intestinal aganglionosis
 Ultra-short-segment HD (involving the distal rectum
below the pelvic floor and the anus) --- in adulthood

14. Classification

15. Clinical presentation:
 Depends on extent and age of patient
 Usually presents as incomplete bowel obstruction
 Newborns : trias hirschsprung’s
 (1) Failure to pass meconium within the first 48 hours
 (2) Abdominal distension that is relieved by rectal stimulation
or enemas
 (3) Projectile passing stool with digital stimulation
 Vomiting
 Neonatal enterocolitis
 Symptoms in older children and adults include :
 Severe constipation and infrequent passing stool often have
extensive enema programs or digital stimulation
 Abdominal distension and Bilious vomiting
 Failure to thrive (Malnutrition)

16. DIAGNOSA
 Rho”
 Barium enem tehnik Hirschsprung →´TRIAS KLASIK’
 FPA menyerupai? obstruksi usus letak rendah
 PA
 Biopsi isap rektum → tidak didapatkan sel gangliom meisner,
penebalan serabut saraf
 Biopsi seluruh tebal rektum ......sel ganglion aurbach
 Elektro manometri anorektal

17. Radiology

18. Radiology

19. Radiology

20. Patology anatomy

21. Patology anatomy

22. Patology anatomy

23. Hirschsprung’s Disease
Functional Constipation
Feature
At birth
2-3 years
Onset
Common
Rare
Delayed passage of meconium
Common
Rare
Obstructive symptoms
Rare
Common
Withholding behavior
Rare
Common
Fear of defecation
Rare
Common
Fear of incontinence
Small, ribbon-like
Very large
Stool size
Common
Rare
Poor growth
Possible
Never
Enterocolitis
Narrowed
Enlarged
Rectal ampulla
Rare
Common
Stool in ampulla
Transitional zone, delayed
emptying
Lg amount of stools,
no transitional zone
Barium enema
Absent rectosphincteric reflex
Normal
Anorectal manometry
No ganglion cells, nerve hypertrophy
and increase acetylcholinesterase
activity
Normal
Rectal biopsy
Childhood Functional Constipation
and Hirschsprung’s disease

24. Remember
 No correlation between length of aganglionsis and age of
presentation
 Usually diagnosed in neonatal period
 DRE important to rule out anorectal malformations
 Delayed meconium passage
 95% of normal children pass meconium within 24
hours
 10% of children with Hirschsprung’s pass meconium
within 24 hours

25. MANAGEMENT
 INTERMITENT COLON WASHOUT (DURING
WAITING PERFORM STOMA) PREVENTING
NECROTIZING ENTEROCOLITIS
 STAGED OPERATION
 STOMA (SIGMOIDOSTOMY, TRANVERSOSTOMY
BASE ON LENGTH OF THE AGANGLIONIC
SEGMENT)
 DEFINITIF PROCEDURE SUCH AS
 DUHAMEL PROCEDURE
 SOAVE PROCEDURE
 SWENSON PROCEDURE
 REHBEINPROCEDURE

26. DUHAMEL PROCEDURE

27. COMPLICATION
1. LEACKAGE
2. STENOSIS
3. INCONTINENCE
4. OBSTIPATION

28. THANK’S