1. Hirschsprung disease is a developmental disorder caused by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine. 2. It presents in neonates as intestinal obstruction due to functional obstruction at the level of aganglionosis. 3. Diagnosis involves clinical features like failure to pass meconium, imaging studies to identify transition zone, and rectal biopsy to show absence of ganglion cells. 4. Surgical treatment involves pull-through procedures like Swenson, Duhamel or Soave to resect aganglionic segment and join normal bowel above.

1. HIRSCHSPRUNG DISEASE
DR. PRANAYA

2. • developmental disorder
• Intrinsic component of ENS involved.
( EXTRINSIC consist of afferent efferent nerves to bowel)
• Absence of ganglion cells in the myenteric and
submucosal plexuses of the distal intestine.
• functional intestinal obstruction at the level of
aganglionosis .

4. • Aganglionosis involves the rectum or rectosigmoid,
but it can extend for varying lengths.
• 5-10%cases - total aganglionsis of gut.
• 1887 - Harald Hirschsprung- a pathologist at Queen
Louise Children’s Hospital in Copenhagen described 2
cases and ultimately his name.

5. Etiology
• Ganglion cells are derived from the neural crest.
• 13 weeks post-conception, neural crest cells have
undergone a process of migration through the
gastrointestinal tract from proximal to distal, after
which they differentiate into mature ganglion cells.
• ENS is derived from crest cells that originate from two
specific regions of the neuraxis – the vagal (defined as
post-otic hindbrain adjacent to somites 1-7) and sacral
(caudal to somite 24 in humans)

7. Two theories as to why this occurs
• The most prevalent is that the neural crest cells never
reach the distal intestine because they either mature or
differentiate into ganglion cells earlier than they
should .
• The second theory is that the ganglion cells do reach
their destination but fail to survive or proliferate .
• RET, Endothelin 3, Endothelin B

8. DIAGNOSIS
• CLINICAL PRESENTATION-
Neonatal Obstruction
• Abdominal distension, bilious vomiting, and feeding
intolerance.
• Delayed passage of meconium beyond the first 24
hours is characteristic- In 90% cases.
• cecal or appendiceal perforation.

9. Differentials
• Meconium ileus is the only variety of neonatal intestinal
obstruction that produces abdominal distention at birth
before the neonate swallows air. History of Cystic fibrosis.
• Finger pressure over a firm loop of bowel may hold the
indentation - PUTTY SIGN.
• Rectal examination are unremarkable, but
characteristically on withdrawal of the examining finger a
spontaneous expulsion of meconium does not follow.

10. • Palpable abdominal mass, discoloration of the abdominal
wall, and signs of peritoneal irritation – in cases of in utero
perforation and cyst formation.
• (1) great disparity in the size of the intestinal loops
because of the configuration of different segments of the
bowel.
• (2) no or few air-fluid levels on the erect film because
swallowed air cannot layer above the thickened
inspissated meconium .
• (3) a granular “soap bubble” or “ground-glass”
appearance seen frequently in the right half of the
abdomen, a finding that requires swallowed air bubbles to
intermix within the sticky meconium .

11. dilated small bowel loops of
disparate size, few air-fluid
levels.
“ground-glass” or “soap-
bubble” appearance in the
right lower quadrant.

12. • A contrast enema (Gastrografin) or any water-soluble
contrast agent will outline a normally positioned colon
of appropriate length but of small caliber.
• It will be empty or will contain pellets of inspissated
meconium. The colon will be the typical “unused”
colon or “microcolon”.

13. DIFFERENTIAL
• Meconium plug syndrome - confirmed by a contrast enema with the
finding of “plugs” or “casts” of meconium in the sigmoid or
descending colon .
• Spontaneously pass after withdrawal of the enema catheter with
expulsion of the enema.
• Association of meconium plug syndrome with other gastrointestinal
anomalies, and up to 14% of neonates with CF will be seen to have
meconium plug syndrome.
• The pathogenesis is poorly understood - bowel hypomotility.
• Meconium plug syndrome has also been associated with
prematurity, hypotonia, hypermagnesemia, respiratory distress,
sepsis, hypothyroidism, diabetes, and Hirschsprung disease.

14. Chronic Constipation
• m/c among breast-fed infants, develop constipation
around the time of weaning.
• Diagnostic points in favour of HD :-
 failure to pass meconium in the first 48 hours of life,
failure to thrive, gross abdominal distention, and
dependence on enemas without significant encopresis.

15. Enterocolitis
• 10% - Hirschsprung-associated enterocolitis (HAEC)
• fever, abdominal distention, and diarrhea.
• presentation with diarrhea may be confusing.
 H/O failure to pass meconium.
 intermittent obstructive episodes.

16. • Stasis leads to bacterial overgrowth with secondary
infection.
 Clostridium difficile
 Rotavirus
• Alterations in intestinal mucin production and Ig
which results in loss of intestinal barrier function and
allows bacterial invasion.

17. Associated Conditions
• Down syndrome (trisomy 21)
• Neurocristopathy syndromes
 Waardenberg-Shah syndrome.
 Smith-Lemli-Opitz syndrome.
 Congenital central hypoventilation syndrome (Ondine
curse)
Congenital heart disease
Malrotation
Urinary tract anomalies

18. eyes of two different colors (complete heterochromia)
 forelock of white hair (poliosis)
 profound hearing loss
white skin pigmentation,
 Hirschsprung disease.

19. Mi croce pha ly , Bi t e mpora l
Na rrowing (Re duce d
Di st a nce Be t we e n
Te mpl e s) , Pt osi s , A Short
And Upt urne d
Nose , Mi crogna thi a , Epi ca nt
ha l Folds, And Ca pilla ry
He ma ngi oma Of The Nose

21. RADIOLOGIC EVALUATION
• Pathognomonic on contrast enema is a transition zone
between the normal and aganglionic bowel – 90%
cases.
• Ideal - water-soluble enema- definitive treatment for
meconium ileus and meconium plug syndrome.
(neonates)
• Most important view- lateral projection, in which a
rectal transition zone will be most evident.

22. RECTO-SIGMOID INDEX- RATIO
OF RECTAL DIAMETER (R) TO
SIGMOID DIAMETER (S) IS LESS
THAN 1.0
RETENTION OF CONTRAST ON A
24-HOUR POSTEVACUATION
FILM.

25. ANORECTAL MANOMETRY
• RECTO-ANAL INHIBITORY REFLEX (RAIR)-- reflex
relaxation of the internal anal sphincter in response to
rectal distension, present in normal children.
• absent in children with HD
• Inflating a balloon in the rectum while simultaneously
measuring the internal sphincter pressure.
• Useful in older children with chronic constipation which
can avoid rectal biopsy.
• Artifacts- movement, crying, contraction of ext. sphincter

26. RECTAL BIOPSY
• Rectal biopsy- gold standard diagnostic technique.
• Absence of ganglion cells in the submucosal and
myenteric plexuses.
• Evidence of hypertrophied nerve trunks.
• Physiological paucity of ganglion cells in the area 0.5
to 1 cm above the dentate line- so biopsy should be
taken at least 1 to 1.5 cm above it.
• Suction biopsy technique-low risk of perforation or
bleeding.
• Routine hematoxylin and eosin staining is
supplemented by staining for acetylcholinesterase,
which has a characteristic pattern in the submucosa
and mucosa in children with hirschsprung disease.

27. AChe staining

28. HD
H
D
Calretinin
IHC

29. • Most accurate - Calcitonin, almost always absent in
patients with Hirschsprung disease.
• Early Rectal biopsy in premature infant with distal
intestinal obstruction is not recommended due to
immaturity of ganglion cells and tissue inadequacy.
• Highly recommended to wait with conservative
mangement till term.

30. Pre operative
• The first priority is resuscitation, particularly in
neonates & enterocolitis--- iv fluids and broad
spectrum antibiotics
• Decompression of the colon using digital rectal
stimulation, irrigations, or occasionally an emergency
stoma.

31. Rectal biopsy
• Suction biopsy mainly in infants
• Rectal suction biopsy (RSB) is not advised in children
after three years of age, as it is less likely to provide
adequate submucosa for identification of ganglion
cells.
• Painless - At least 2.5 cm above the anal verge in the
neonate and 3.5 cm in the older child.

33. • Lubricated instrument
• Inserted into the anus
• Side hole positioned at 3 cm from the anal verge
(minimum distance and avoids the normal
hypoganglionic zone)
• Side hole facing the posterior or lateral walls of the
rectum.
• Avoids increased risk of perforation into the
rectovesical or rectovaginal pouch of the peritoneal
cavity if the biopsy is full thickness and anterior.
• Apply a gentle pressure on to the rectal wall in order
to obtain an adequate sample.

34. • Suction by withdrawing the syringe to 3–5 ml (~150
cm H2o).
• After 2–3 seconds, the knife is triggered.
• Critical submucosa can be recognized as a definite
whitish layer.
• Repeated at 3.5 and 4 cm above the anal verge with
between two and four specimens obtained.
• The biopsy material on wet gauze- avoid drying out
during transport

36. Complications
• Inadequate specimen retrieval.
• Perforation.
• Bleeding.
• Pelvic sepsis.

37. Open rectal biopsy
• Child is older
• RSB instrument is inadequate.
• STEPS –
Anal orifice is digitally dilated.
Assistant holding two small Langenbeck’s retractors.
A stay suture is placed on the midline in the posterior rectal
wall at least 2 cm above the dentate line
Operator places a further stay suture 2 cm higher, which is
tied and the needle left intact.
Used to repair the defect once the specimen has been taken.

38. • Using sharp-pointed scissors, a specimen comprising
mucosa/submucosa or full thickness of the rectal wall
is taken between the stay sutures.
• Suture the defect with a running locking suture from
above.

39. Pull-through Procedure for
Hirschsprung Disease
• Swenson
• Duhamel
• Soave
• Rebhein and State
• all are acceptable alternatives and that the best
operation for an individual patient is the one that the
surgeon has been trained to do and does frequently.

40. SWENSON PROCEDURE
• Swenson’s goal was removal of the entire aganglionic
colon, with an end-to-end anastomosis above the anal
sphincter.
• Original operation was laparotomy with anastomosis
following eversion of aganglionic rectum.
• Dissection tightly on the rectal wall, in order to avoid
injury to deep pelvic nerves, vessels, and structures
such as vagina, prostate, vas deferens & seminal
vesicles.

42. SOAVE PROCEDURE
• Designed to avoid the risks of injury to pelvic
structures inherent in the Swenson procedure by
doing a submucosal endorectal dissection and placing
the pull-through bowel within a “cuff” consisting of
aganglionic muscle.
• Initially pulled segment was left hanging and second
stage anastomosis was done after weeks.
• Boley modified to a single stage procedure.

43. • Controversy-
1. how long the cuff should be ?
2. whether it should be split or a segment excised ?
• Long-term issues with constipation due to incomplete
excision of the aganglionic rectum

44. DUHAMEL PROCEDURE
• Use of bloodless plane between the rectum and the
sacrum and joining the two walls to create a new
lumen, which was aganglionic anteriorly and
normally innervated posteriorly.
• In the initial description, two Kocher clamps were
used to join the walls and were left in for a week.
Now, surgical staplers used.
 easier and safer
 less pelvic dissection
 presence of a “reservoir”

45. Role of Colostomy
• Indication of stoma :-
1. severe enterocolitis
2. perforation , malnutrition
3. massively dilated proximal bowel
4. inadequate pathology support to reliably identify the
transition zone on frozen section
• one-stage operations- increasingly popular
 Avoids morbidity of stomas.
 cost-effective.

46. LAPAROSCOPIC PULL-THROUGH
• Georgeson in 1995
Laparoscopic biopsy to identify the transition zone
Laparoscopic mobilization of the rectum below the
peritoneal reflection
Short mucosal dissection through a perineal approach
Rectum is then prolapsed through the anus, and the
anastomosis is done from below
Shorter hospital time.

47. TRANSANAL (PERINEAL) PULL-
THROUGH
• Transanal pull-through procedure uses the same
mucosal dissection from below as the Georgeson
operation, but without laparoscopic mobilization of
the rectum.
• The mucosal incision is made 0.5 to 1 cm above the
dentate line
• The rectal muscle is then incised circumferentially,
and the dissection is continued on the rectal wall,
dividing the vessels as they enter the rectum.
• The entire rectum and part of the sigmoid colon can be
delivered through the anus.

48. • the anastomosis is done from below after transitional
zone resection.
• Drawbacks :-
1. No definition of transitional zone – better to do
biopsy by umbilical approach.
2. Prone or supine position- more used to prone
position but supine for peritoneal access, Bx or
stoma pull through.
3. Length of the rectal cuff- initially long cuff, with a
submucosal dissection extending into the peritoneal
cavity.

49. • most advocate division of the cuff to prevent
narrowing.
• Short cuff have less chance of obstruction,
enterocolitis.

50. Long-segment Hirschsprung disease
• transition zone that is proximal to the mid transverse
colon.
• most common is total colonic aganglionosis includes
some of the distal ileum.
• Contrast enema typically shows a shortened, relatively
narrow colon (“question mark colon”).

51. • Traditionally, appendectomy, assuming lack of
ganglion cells in the appendix would be diagnostic of
total colonic disease.

52. Surgical Approach to Long-
Segment Hirschsprung Disease.
• Straight pull-through- bringing the normal innervated
ileum to just above the anal sphincter, using any one
of the standard techniques (Swenson, Duhamel, or
Soave
• J-pouch construction.

53. COLON PATCH.
• side-to-side anastomosis between normally innervated
small bowel and aganglionic colon, using the small
bowel for motility and the colon as a reservoir for
storage of stool and absorption of water.
• Martin procedure consists of a Duhamel construction
that extends proximally to involve the entire left colon