Hirschsprung disease is a developmental disorder of the enteric nervous system causing intestinal obstruction. It results from the absence of ganglion cells in the submucosal and myenteric plexuses of the colon. Classical symptoms in infants include abdominal distension, failure to pass meconium, and bilious vomiting. Diagnosis involves imaging studies and rectal biopsy confirming aganglionosis. Surgical treatment involves resecting the aganglionic segment and pulling the normal bowel through to the anus or rectum, such as in the Swenson, Duhamel or Soave procedures. Postoperative complications can include anastomotic leak, enterocolitis and strictures.

1. HIRSCHSPRUNG DISEASE
BY Dr. SHIVRAJ SHARMA
2ND YEAR MS RESIDENT
DEPT OF GENERAL SURGERY
2017. 11.10
DEPARTARMENT OF SURGERY

2. • Developmental disorder characterised by an absence of ganglionic cells in
the myenteric (Auerbach’s) and submucosal (Meissner) plexus.
• Neurogenic form of intestinal obstruction
• Failure in relaxation of the affected bowel
• Upstream bowel becomes dilated secondary to functional obstruction
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3. • Dr Orvar Swenson describes this condition as “ Congenital megacolon is
caused by malformation in the pelvic parasympathetic system which
results in the absence of ganglion cells in Auerbach’s plexus of a
segment of distal colon. Not only is there an absence of ganglion cells
,but the nerve fibers are large and excessive in number ,indicating that
the anomaly may me more extensive than the absence of ganglion
cells”
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4. History
• 1886- Harald Hirschsprung ,first described HD
• 1992- genetic discovery of the disease
• 1948- Orvar Swenson, pull-through surgery
• 1933- Baird ,resection followed by reanastomosis without a colostomy
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5. Epidemiology
• 1 in 5000 live births
• Boys > Girls : 4 times
• 3-5% of pts have Down’s syndrome
• Definite family history
• >95% cases are full term babies
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10. Embryology and Etiology
• Neuroenteric cells migrate from neural crest to upper end of alimentary
tract and proceed in distal direction
• 12th week : migration to distal colon – first into myenteric (Auerbach’s
plexus) then into submucosal plexus
• Embryologic defect
• Under normal condition the neural crest cells migrate into the intestine
from cephalad to caudad. The process is completed by the 12th week of
gestation but the migration from midtransverse colon to anus takes 4
weeks.
• During this latter period,the fetus is most vulnerable to defects in migration
of neural crest cells.
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11. • Immunologic mechanism: increased expression of class II antigens in the
mucosa and submucosa causes fetus to mount an immunologic response
against the neuroblast
• Genetic factors: May affect more than one family member in 3-7% of cases
• Deletion in the RET gene chromosome 10q11 and EDNRB gene located on
13q22 and EDN 3 gene (major role in the development of the enteric
nervous system)
• Recent studies shows increased frequency of mutations in several genes ,
including GDNF,its receptor Ret, or its coreceptor Gfra-1. Mutations in
these genes lead to aganglionic megacolon in mice.
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12. Pathogenesis
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13. • Proximal ganglionic intestine hypertrophies and becomes thicker and
longer than normal
• Taenae disappear and longitudinal muscle layer completely surrounds
colon
• Distal intestine: absence of ganglion cells in the submucosal
(Meissner’s) plexus and myenteric (Auerbach’s) plexus
• Marked increase in nerve fibers which extend into the submucosa
(seen with acetylcholinesterase stain)
• Aganglionosis extends to rectosigmoid region in 80% of cases
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14. Types of Hirschsprung disease:
• In 80% of individuals, aganglionosis is restricted to the rectosigmoid colon
( short-segment disease).
• In approximately 15%-20%, the aganglionosis extends proximal to the mid
transverse colon ( long-segment disease).
• In approximately 5% of individuals, aganglionosis affects the entire large
intestine ( total colonic aganglionosis).
• Rarely, the aganglionosis extends into the small bowel or even more
proximally to encompass the entire bowel ( near total intestinal
aganglionosis)
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15. Clinical Presentation
• In newborn period, the symptoms are abdominal distention,failure to pass
meconium and bilious emesis.
• Any infant who doesn’t pass meconium beyound 48 hrs of life must be
investigated.
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16. • Occasionally ,infants presents with dramatic complications of HD called
ENTEROCOLITIS.
• This pattern is chr. by abd distention and tenderness and a/w
manifestations of systemic toxicity that include fever,failure to thrive and
lethargy.
• Infants are often dehydrated and demonstrate a leukocytosis or increase at
circulating bands forms on hematological evaluation.
• Approx 20% cases diagnosis made beyound newborn period , these
children have severe constipation which has usually been treated with
laxatives and enemas.
• Abd distention and failure to thrive are uasully present at diagnosis.
• In older children, large fecal mass palpable in left lower quadrant while the
rectum is empty.
• Stool Character: small pellets, ribbon-like, fluid consistency.
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17. Associated Anomalies
• Down’s Syndrome
• Wardenberg- Shah Syndrome
• Multiple Endocrine Neoplasia Type II
• Congenital Central hypoventilation Syndrome
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18. Diagnosis
• Abdominal Straight X-rays: Air fluid levels in colon and distended loops
of intestine.
• Barium contrast enema: narrow distal constricted aganglionic segment
and dilated proximal ganglionic intestine; funnel shaped transition zone
between these 2 segments (diagnostic accuracy 80-90%)
• Significant barium remaining in colon in 24-hr delayed film helpful in
determining level of Aganglionosis.
• It is very useful in excluding other causes of distal intestinal obstruction
like small left colon syndrome ( infants of diabetic mothers) colonic atresia,
meconium plug syndrome, meconium ileus.
• Barium enema in total colonic aganglionosis shows a markedly shortened
colon.
• RECTOSIGMOID INDEX <1
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21. • Rectal biopsy: definitive diagnosis
• Samples of mucosa and submucosa are obtained at 1 to 1.5 cm from the
dentate line.
• Could be performed at bedside
• Suction biopsy
• Full thickness rectal biopsy
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Hirschsprung disease: Rectal mucosa (a) showing hypertrophic nerve bundle in the
submucosa, increasein Acetylcholinesterase activity (b) of pattern A and negative
staining with calretinin (c) note the negative staining of hypertrophic nerve fibre
(arrow) with calretinin

23. • Rectal manometry
• Absent rectoanal inhibitory reflex
• Lack of internal anal sphincter relaxation in response to rectal stretch
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24. Treatment
• The classical surgical approach : multi staged procedure, included a
colostomy in new born period followed by definitive pull through operation
after the child was over 10 kg.
• Currently three viable options for definative pull through procedure that are
currently used.
• For each of operation performed ,the principle of treatment includes
confirming the location in bowel where the transitional zone between
ganglionic and aganglionic bowel exits ,resecting the aganglionic segment
of bowel and performing an anastomosis of ganglionated bowel to either
the anus or a cuff of rectal mucosa.
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25. • It is now well established that primary pull through procedure can be
performed safely ,even in newborn period.
• In childrens with significant colonic distention ,it is important to allow for a
period of decompression using a rectal tube if a single staged pull through
is to be performed
• In older children with very distented ,hypertrophied colon,it may be
prudent to perform a colostomy to allow the bowel to decompress,prior to
performing a pull through procedure.
• There is no upper age limit for performing a primary pull through.
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26. Surgical Options
• Swenson Procedure (1948)
• Duhamel Procedure (1960)
• Soave Procedure (1963)
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27. 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 anus via a perineal approach
• Completely removes defective aganglionic
colon.
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28. The 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
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29. The 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
• Advantage: rectal intramural dissection
ensures no damage to pelvic neural structures
• Higher rate enterocolitis, diarrhea
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30. Overall Mortality
• Swenson procedure: 1-5%
• Duhamel procedure: 6%
• Soave procedure: 4-5%
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32. Operative complications
• Leak at anastamosis: 5-7%
• Postop Enterocolitis: 19-27%
• Constipation
• Stricture Formation
• Incontinence
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33. Case study
• A 3 day old first born term male infant ,uneventfull perinatal course and
dischrged at 12 hrs of age . His mother notes the he initially feed well but
has been vomiting for past 24 hrs .The vomiting initially consisted of milk
but now is lightly green tinged.his mother feel his abdomen is firm .He
passed a small amount of meconium for the first time today. He has had no
fever and has been alert and active. O/E vitals signs are normal, abdomen
markedly distented without masses ,non tender to deep palpation .rectal
examination reveals a normally located anus with normal sphincter location
size and tone. Digital examination is normal and followed by passage of a
large amount of meconium. Lab study : CBC,platelets and electrolytes are
normal. Xray abdomen reveals multiple moderately dilated loops of
intestine with air fluid levels.
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34. ? The history ,physical examination and radiograph are most suggestive of :
A . Malrotion with midgut volvulus
B. Ileal atresia
C. Low intestinal obstruction
D. Necrotising enterocolitis
E.Constipation due to milk intolerance
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35. ? Proper management includes
a. Immediate exploratory laparatomy for relief of obstruction
b. Exp. Lap. Following fliud resuscitation and antibiotics
c. Change to formula milk
d. Lower gastrointestinal contrast study
e. upper gastrointestinal contrast study
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36. ? A barium enema is done which shows transitional zone in the sigmoid colon
.the next step in management is
a.Decending colostomy
b. One stage pull through procedure
c. Rectal biopsy at bedside
d. Full thickness rectal biopsy in operating room with frozen section
examination
e. A or B
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37. ? When the diagnosis is confirmed , management may include
a. Decending colostomy
b. Ileostomy
c. Immediate one stage pull through procedure
d. daily rectal irrigation followed by delayed surgical correction
e. a,c or d
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38. • ? The aganglionic bowel in this disease must
be
a. Resected
b. bypassed
c. Resected or bypassed
d. Preserved
e. Stripped of its muscular layer
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