aganglionisis, megacolon, HD, rectal biopsy, duhamel, swenson, soave

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