In Hirchsprung's disease, Absence of ganglion cells in the myenteric and submucosal plexus Upstream bowel becomes dilated secondary to functional obstruction.

1. HIRCHSPRUNG’S DISEASE
aka
Congenital Aganglionic
Megacolon
By
Dr. Afuye Olubunmi Olusola
MB;MS (Ilorin)
25th February, 2016

2. HIRSCHSPRUNG’S DISEASE
•Neurogenic form of intestinal obstruction
•Absence of ganglion cells in the myenteric
and submucosal plexus
•Failure in relaxation of the internal anal
sphincter and affected bowel
•Upstream bowel becomes dilated secondary
to functional obstruction

3. HISTORY
•1691 Ruysch latin texts
•1886 Harald Hirschsprung – autopsy
•1901 Tittel – histologic findings
•1949 Swenson – pathophysiology and
definitive operative treatment

4. EPIDEMIOLOGY
• 15000 live birth newborn
• 70-80% is boys.
• (M / F. 4: 1 )
• Total colonic aganglionosis, 35% girls
• 3-5% have Down’s sydrome
• Less common in blacks.
• >95% cases are full term babies
• Prematurity is reported in as many as 10% of those children
with HD
• Familial tendency (Dominant pattern of inheritance)

5. EMBRYOLOGY
During normal fetal development cells from neural crest
migrate into the large intestine to form the network of
nerves called Auerbach’s plexus (Muscularis externa)
and Meissner’s plexus ( submucosa)
-Occurs in the end of first trimester
-Lack of these nerves causes failure of relaxation of the
involved part of the colon.
-Also supplied by sympathetic nerves, and intrinsic
component (enteric nervous system)

6. PATHOGENESIS
1. HD, due to failure of neural crest cells to migrate
caudally
Aganglionosis begins at anorectal line
(internal anal sphincter)
80% extend only up to rectosigmoid junction
(Short segment)
10% extend proximal to splenic flexure
10% involves the entire colon and part of small bowel
Rarely involves entire gastrointestinal tract

7. 2. Alteration of the colonic microenvironment
•Genetic, vascular, and infectious factors are
invoked to explain these alterations . Normal
migration may occur with a failure of
neuroblasts to survive, proliferate or
differentiate in the distal aganglionic segment.

8. CAUSES
-No clear cause identified
-Due to mutations in one of several genes
RET proto-oncogene locus10q11.2 (most
common)
EDNRB, locus 13q22 >endothelin receptor type B
EDN3, locus 20q13.2-q13.3 >endothelin 3

9. RET gene
-Provides instructions for producing a protein that
is involved in signaling within cells, essential for
the normal development of several kinds of nerve
cells (cells of the neural crest)
-Ass with thyroid cancer and neuroblastoma
EDNRB, EDN3 > coded proteins helps to connect
the nerve cells to the digestive tract
Other: Nueregulin 3(NRG3) > formation of enteric
nervous system

10. TYPES
1. Congenital :
Commonest
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.).

11. • Depending on the extent and location of the aganglionic
segment, several forms of the disease have been
recognized:
1 Classic form: The aganglionic segment begins
in the distal colorectum and extends for a
considerable distance in the adjoining proximal
dilated bowel.
2 Short-segment form: The aganglionic segment
involves the rectum and rectosigmoid for a
distance of only a few centimeters.

12. 3 Ultra-short segment form: In this variant, the
aganglionic segment is so short that the diagnosis can be
missed if the biopsy is taken too high.
4 Long-segment form (total colonic aganglionosis):
Here the abnormality is more extensive, involving most
or all of the large bowel, and occasionally extending even
to the small bowel. These patients present with
symptoms of intestinal obstruction without megacolon.
5 Zonal colonic aganglionosis: Only a short segment
of bowel is involved. In contrast to all other forms,
ganglion cells are present not only above but also below
the aganglionic segment.

13. PATHOPHYSIOLOGY
• The gross pathologic feature of HD is a dilated proximal
intestine with gradual or abrupt transition to normal
calibrated distal intestine .
• The colon proximal to the aganglionic segment, in an effort
to overcome the partial obstruction, becomes distended
and its wall markedly thickened because of muscle
hypertrophy
• The degree of hypertrophy and dilatation depends upon the
duration and degree of obstruction and thus, indirectly to
the age of the patient.

15. 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
Associated sydromes:
Waardenburg-Shah sydrome
Trisomy 21 occurs in approximately 5% of cases
Mowat-Wilson sydrome,
Goldberg-Shpritez megacolon sydrome, and
Congenital central hypoventilation sydrome.
MEN2 (Multiple endocrine neoplasia)

16. PRESENTATION
In newborns
-Delayed passage of meconium{>48hrs}
-Abdominal distension
-Repeated Vomiting (bilious)
-Constipation or gas
-Diarrhoea
Nearly one half of infants with delayed first passage of
meconium have Hirschsprung’s disease

17. In older children
-Chronic constipation
-Abdominal distension
-Failure to thrive

18. COMPLICATIONS {Without management}
Neonatal Intestinal obstruction
-bilious vomiting,
-abdominal distension
-failure to pass muconium
Recurrent Enterocolitis
mainly in the 1st three months of life.
-fever,
-lethargy,
-anorexia,
-vomiting,
-abd distenon and
-diarrhoea
Tx: antibiotics, antpyretics, fluids
Spontanous perforation
occurs in 3%, specially
if long segment
aganglionosis.
Chronic constipation
Growth retardation
Volvulus.

19. INVESTIGATIONS
Radiology
1. Plain x-rays of the abdomen :Erect & supine
2. Contrast enema
• contrast enema should be done without preparation of
bowel
• Shows narrow distal segment,
• funnel-shaped dilatation at level of transition zone with
marked dilatation of the proximal colon.
24-hrs delayed films
(child with psychogenic stool holding)

20. Barium Enema
•Less sensitive for detecting short lesions, total
colon aganglionosis, and disease of the
newborn
•Many newborns do NOT show definitive
transition zone
•Delayed evacuation of contrast

23. Electromanometry .
• The classic finding is the absence of the recto anal inhibitory reflex when the
rectum is distended.
(Lack of internal anal sphincter relaxation in response to rectal stretch),
balooning
• not useful in neonate
• excellent screening tool in infant & children
Rectal biopsy :
• Definitive diagnostic test
• demonstrates absence of ganglion cells,
• nerve hypertrophy and
• stains indicating increased acetylcholinesterase activity.
suction mucosal biopsy (at different levels ), can be done without anesthesia
full thickness biopsy is done under general anesthesia.
UltraSonography: for associated anomalies.

24. Gross specimen of Hirschprung’s Disease. The proximally
dilated segment of bowel has been resected.

25. Colonic mucosa stained for acetylcholinesterase from
a patient with Hirschsprung disease. There is a marked
increase in the number of nerve fibers in the lamina
propria.

26. MANAGEMENT :• Acute I.O. ,
• NGT ,
• NPO
• IVF ,
• Antibiotics ,
• Rectal tube irrigations .
• The initial treatment requires performing a colostomy.
( multiple seromuscular biopsies)
Note: The colostomy is placed above the transition zone.
• Placement in an area of aganglionosis will lead to persistent
obstruction
• Definitive treatment will be planned.
Chronic constipation :
• Laxative
• Saline enema.
• Work up to
establish the
diagnosis
• Definitive
treatment will be
planned

27. DEFINITIVE PROCEDURES:
By the age of 6-12 months; (9kg or more), a formal
pull-through procedure is done
1. Open surgery :
There are many surgical options for Pull-through
operation.
All aiming at resection of aganglionic segment
They give excellent result in 90%.
a.swenson. (1948)
b.soave. (1963)
c.Rehbein.
d.Duhamel. (1960)
e. Boley's.

28. SWENSON PROCEDURE
•Sharp extrarectal dissection down to 2 cm
above the anal canal
•Aganglionic colonic segment resected
•End-to-end anastamosis of normal proximal
colon to anal canal
•Completely removes defective aganglionic
colon

29. Swenson Procedure

30. DUHAMEL PROCEDURE
•Posterior portion of defective colon segment
resected
•Side to side anastamosis to left over portion of
rectum
•Constipation a major problem d/t remaining
aganglionic tissue
•Simpler operation, less dissection

31. Duhamel Procedure

32. SOAVE PROCEDURE
•Circumferential cut through muscular coat of
colon at peritoneal reflection
•Mucosa separated from the muscular coat down
to the anal canal
•Proximal normal colon is pulled through retained
muscular sleeve
•Telescoping anastamosis of normal colon to anal
canal

33. Soave Procedure

34. Soave Procedure
•Advantage: rectal intramural dissection
ensures no damage to pelvic neural
structures
•Higher rate enterocolitis, diarrhea
•Problems w/ cuff abscesses, often requires
repeated dilations

35. Overall Mortality
•Swenson procedure: 1-5%
•Duhamel procedure: 6%
•Soave procedure: 4-5%

36. ONE VS TWO STAGE PROCEDURE
Historically,
Two stage procedure performed: preliminary
colostomy, then completion pull through
-Delicate muscular sphincters of newborn may be
injured
1980s, 1 stage procedures became more popular

37. Comparison by complications
Early complications: No difference in incidence of
anastomotic leak, pelvic infection, prolonged ileus,
wound infection, wound dehiscence
Late complications: No difference in incidence of
anastomonic stricture, late obstruction,
constipation, incontinence, urgency
Postoperative enterocolitis higher in 1 stage (42%
vs 22%)

38. 2. LAPAROSCOPY .
Transanal endorectal pullthrough
-Excised aganglionic tissues removed through anal
canal
-no abdominal incision
-Better results in terms of pain, return of bowel
function, shortens hospital stay
-Similar incidence of leaks, pelvic abscesses,
enterocolitis.

39. COMPLICATIONS
1. Anastomotic leak: 5-7%
2. Postop Enterocolitis: 19-27%
3. Stricture formstion
4. Retraction of the colon.
5. Fecal incontinence (soiling/encopresis/paradoxical
diarrhoea ).
6. Persistant constipation.
NOTE:
-Afebrile Dirrhoea soon after pullthrough is expected
-Fluid and observation, Avoid antemetics

40. THANK YOU