Hirschsprungs sisease overview

1. Moderator: Dr. Chalapathi.G
MS; MCh Paed surg
presenter: Dr.K.Meena Reddy
2nd yr pg,
Dept. of general surgery

2.  Synonyms : Congenital Megacolon,
Congenital Aganglionosis
 Surgical cause of constipation in children
 Hirschsprung’s disease is a developmental
disorder of enteric nervous system and is
characterised by an absence of ganglion cells
in the distal colon resulting in a functional
obstruction
 First described in 1886 by a Danish physician
Harald Hirschsprung

3.  One in 5000 live births
 Male-to-female ratio of 4:1
 1-6 % are familial
 10%-30% have associated anomalies
 Long segment disease & familial disease
occur more commonly in females

4.  Down syndrome(5%)
Waardenburg shah syndrome
Cartilage-hair hypoplasia
Congenital hypoventilation (Ondine curse)
Urogenital or cardiovascular abnormalities
Neuroblastoma
Haddad syndrome
Multiple endocrine neoplasia type II
 Hirschsprung disease also associated with
microcephaly, mental retardation, and abnormal
facies; with autism,cleft palate, hydrocephalus,
and micrognathia

5.  Sporadic,dominant and recessive patterns of
inheritance have been demonstrated in family
groups.
 Genetic defects have been identified in multiple
genes that encode proteins of the RET
signaling pathway (RET, GDNF, and NTN) and
that are involved in the endothelin (EDN) type B
receptor pathway (EDNRB, EDN3, and EVE-1).
 Syndromic forms of Hirschsprung disease have
been associated with the L1CAM, SOX10, and
SIP1 genes.

6.  The precursors of the ganglion cells are
neural crest cells that migrate into the
intestine from cephalad to caudad.
 Failure of this migration in the intra embryonic
life results in aganglionosis

7.  The process is completed by the twelfth week
of embryonic life, but the migration from
midtransverse colon to anus takes 4 weeks.
This increases the time period of vulnerability
for failure of migration and accounts for the
fact that most cases of aganglionosis involve
the rectum and rectosigmoid – the classical or
rectosigmoid HD
 If the migration stops more proximally long
segment HD or total colonic aganglionosis
occurs

8.  The aganglionic segment is limited to the
rectosigmoid in 75% of patients; in 10% the
entire colon lacks ganglion cells. Total bowel
aganglionosis is rare.
 Absence of Meissner and Auerbach plexus
leads to marked increase in extrinsic intestinal
innervations-hypertrophied nerve bundles with
high concentrations of acetylcholinesterase
between the muscular layers and in the
submucosa

9.  Enzyme histochemistry showing aberrant
acetyl choline esterase fibres (brown) in the
lamina propria

10.  Rectosigmoid in 75%
 Short segment (rectum)
 Ultra short segment (internal sphincter
achalasia)
 Long segment
 Total aganglionosis (large intestine,
sometimes a part of small intestine) up to
10%

11.  Transitional zone proximal to aganglionic
bowel have hypoganglionosis vary from 1-5 cm
 Normal bowel proximal to transitional segment
becomes gradually dilated and hypertrophied
 Aganglionic segment is normal sized
 Mucosa is chronically inflamed and ulcerated
 Pelvic mesocolon is elongated and thickened
with large and prominent blood vessels

13.  Birth (most common)
 Infancy
 Childhood
 Adults (rare)

14.  Nearly 80% cases are detected in neonatal
period in the current era
 Failure to pass meconium within 24 – 48
hrs should make one suspicious of HD
 Progressive abdominal distension, vomiting,
poor feeding
 P/R examination reveals a tight anus,empty
rectum and explosive escape of gas or
feces on withdrawl of finger
 Atypical presentation may include frank
small bowel obstruction,neonatal colonic
perforation and neonatal appendicitis

15.  Progressive constipation since early infancy
 H/o delayed passage of meconium
 Need for suppositories to pass meconium in
the first week
 No straining and no perianal soiling
 Abdomen is bloated
 Appetite is poor

16. Functional
constipation
Hirschsprung’s
disease
1. Onset At weaning time Since birth
2. Straining Yes No
3. Perineal soiling Yes No
4. P/R examination Rectum loaded with
stools till the verge
Fecal loading felt
above the rectum

17.  Progressive constipation
 Chronic abdominal distension
 Growth failure
 Nutritional deficiencies
 Hypoproteinemia
 Neglected HD may go on to adulthood
 Malnourished due to chronic fecal retention
 Anemia and hypoprotenemia

18. HD associated enterocolitis
 Diarrhea,fever,abdominal distention
 may become rapidly fatal
 incidence is 15-30%
 more common with long segment disease and
HD associated with down’s syndrome

19.  Plain X – Ray Abdomen
dilated bowel loops with
absent rectal gas shadow
 Lateral cross table beam fim
in prone position is a good way
To remark on absence of rectal gas

20.  Contrast enema
Containdications:
suspected bowel perforation
coexisting enterocolitis

21.  Anorectal manometry – absent recto anal
inhibitory reflex(RAIR) is 85-100% accurate in
neonates and 100% in older children in
diagnosing HD
 Only method to diagnose ultra short segment
HD ( internal sphincter achalasia)

22. Rectal Biopsy
Gold standard for diagnosing HD

24.  Once the diagnosis is confirmed , the baby is
put on daily rectal washouts to help
decompress bowel.
 Allow oral feeds and document weight gain
 Plan for definitive procedure at 4-6 wks age
 If rectal washouts fail, a staged approach is
followed i.e. a colostomy followed by definitive
pull through

26.  In an older child degree of dilatation and
surgeon’s preferences govern the strategy
 Most surgeons prefer colostomy followed by
definitive pull through few months later

27.  Staged Duhamel procedure is preferred
 Premature pull through is expected to meet
with bowel dysfuntion and failure

28. 1. Laparoscopic Assisted Trans Anal Pull
Through
2. Laparoscopic Assisted Duhamel Pull
Through : retro rectal pull through
classical Duhamel
Martin modification
3. Swenson operation
4. Soave operation / endorectal pull through
Boley’s modification

29. 1. Transition zone colostomy
2. Hartman procedure with end colostomy
3. Right transverse colostomy

31.  Preferred technique
 Preop bowel preparation with peglec
 Open cannulation at umbilicus for optical port
 2-3 working ports of size 3-5mm
 Frozen section biopsy
 Rectum is mobilized staying
close to its wall down to within
2 cm of anal verge

32.  Proximal pull through colon mobilized saving
marginal artery
 Then dissection performed in transanal part in
submucosal space, and mobilized proximal
bowel is retrieved and anastomosed to anal
canal about a cm above the dentate line

34.  Involves creating a retro rectal space and the
ganglionated bowel is pulled through in this
space and anastomosed with posterior
aganglionic wall of the bowel,Septum
between them is devided with linear cutting
stapler
 Anterior segment ensures normal ano rectal
reflex, posterior segment ensures motility
 retains rectum,Rectal sensation,Storage,
Better bowel function

35.  Also known as Endo-rectal pull through
 Avoid injury to extra rectal structuress
 Results in internal layer for propulsion and an
external muscle coat with proprioception

36.  Aim is to resect aganglionic segment and
perform a colo anal anastomosis
 low anterior resection, eviscerating the rectal
stump to complete the anastomosis outside
the anus

37.  Infection
 Bleeding/hematoma formation
 Small bowel obstruction
 Stomal problems
 Stricture formation
 Fecal retention
 Fecal incontinence
 Hirschsprung’s enterocolitis
 Anastomotic leakage
 Paralytic ileus