HIRSCHSPRUNG'S
DISEASE
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Introduction
Incidence and spectrum of disease
Etiology and genetic basis of disease
Clinical Presentation and diagnosis
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Pre-operative preparationSurgical management
Post-operative management
Long term outcomes
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Also known as congenital megacolon.
Characterised by absence of ganglion
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Introductioncells in the myenteric (Auerbach) and
submucosal (Meissner)plexus of the
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intestine.
In 1887, Harald Hirschsprung, a
paediatrician from Copenhagen,
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described two cases of the condition
that ultimately bore his name.
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Occurs in approx. 1 in 5000 live
births.
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Most commonly extent ofIncidence and
involvement is rectosigmoid- 80%
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spectrum of
disease
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Proximal colon involvement- 10%Total colon involvement with part
of distal ileal involvement- 5-10%
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Male to female ratio=4:1
For total colonic
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aganglionosis, male to
female ratio= 1:1
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Ganglion cells are derived from theneural crest.
Etiology and
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By 13 weeks post-conception, the
genetic basis
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neural crest cells have migrated fromproximal to distal through the
of disease
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gastrointestinal tract
Differentiation into mature ganglion
cells.
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Two theoriesEarly maturation of neural
Inhospitable micro-
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crest cells before reaching
environment for neural
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distal part of colon andcrest cells in the distal
rectum.
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bowel leading failure of
survival of neural crest cells.
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? Most common gene involved is RET proto-oncogene. (Probably early cell death)
? Other genes are:
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Genetics
? SOX-10 genes (probably early maturation)
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? S1P1? Phox 2B
? Hedgehog notch complex.
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Trisomy 21
Associated
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Opitz syndrome
syndromes
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Congenital central hypoventilationand
syndrome
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conditions
Neurofibromatosis
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NeuroblastomaPrenatal diagnosis is rare.
Most affected patients present in the
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CLINICAL
neonatal period
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PRESENTATION? Abdominal distension
AND
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? Bilious vomiting
? Feeding intolerance
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DIAGNOSIS? Delayed passage of meconium beyond the first
24hours (90%)
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? Prolonged passage of meconium
Occasional caecal or appendiceal
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perforation.Radiology
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? Plain abdominal X-rays- Dilated loops of boweland absence of air in the pelvic region.
? Contrast enema or Barium enema-
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? Presence of transition zone between normal
and aganglionic bowel
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? Retention of the contrast beyond 24hours--- Content provided by FirstRanker.com ---
Rectal biopsy using suction
technique and histopathology
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showing absence of theganglion cel s is pathognomic.
Most patients wil also have
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evidence of hypertrophied
nerve trunks
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Chronic constipation with presence of meconiumhistory
Usual y on and off constipation is present til the
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child is on breast feeds but, it becomes profound
Presentation
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once weaning is started.in late infancy
Failure to thrive
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Dependence on laxatives and enemas for
constipation
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Distended bowel loops
X-rays
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abdomenReversal of rectosigmoid
ratio and retention of
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contrast on a 24hours post
evacuation film.
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Anorectal manometry
The recto-anal inhibitory reflex (RAIR) is defined as reflex
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relaxation of the internal anal sphincter in response torectal distension and is present in normal children but
absent in children with Hirschsprung disease.
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The RAIR can be documented using anorectal manometryby inflating a bal oon in the rectum while simultaneously
measuring the internal sphincter pressure.
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A- Normal child
B- Hirschsprung's disease
Older children
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In older children, the suction
rectal biopsy may be less
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reliable because of a higherrisk of sampling error.
Full-thickness biopsies,
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usually under general
anesthesia, may be
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necessary in these patients.Approximately 10% of neonates present with fever,
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abdominal distention, and diarrhea due to Hirschsprung-associated enterocolitis (HAEC)- can be life-threatening.
Hirschsprung-
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Since HD characteristically causes constipation rather
than diarrhea, this presentation may be confusing and
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associatedthe diagnosis may not be considered.
enterocolitis
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A careful history, including a history of delayed passage
of meconium and intermittent stooling, should lead to
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(HAEC)an investigation for HD.
Aggressive treatment with IV fluids and IV antibiotics is
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done.
Rectal irrigations do not help.
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Long segmentNeeds a diverting colostomy or
involvement
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ileostomy to relieve obstruction.
Barium enema shows- Question
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Mark sign.--- Content provided by FirstRanker.com ---
Questionmark sign
Hematoxylin and eosin
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Stains for Acetylcholinesterase
Immunological staining with calretinin
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HistopathologyThe gold standard for the diagnosis is the absence of
ganglion cel s in the submucosal and myenteric
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plexuses on histological examination.
Most patients wil also have evidence of
hypertrophied nerve trunks.
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PREOPERATIVE PREPARATION? Once the diagnosis of HD is made, the child should be
? appropriately resuscitated with intravenous fluids
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? treated with broad-spectrum antibiotics
? Nasogastric drainage
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? rectal decompression using rectal stimulation and/or irrigation.Once the infant or child has been resuscitated and
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stabilized, the operation can be done semi-
electively.
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While waiting, many infants can be dischargedhome on breast milk or an elemental formula, in
combination with rectal stimulations or irrigations.
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In the older child with an extremely dilated colon, pull-throughshould be delayed until the diameter of the colon has decreased
sufficiently to perform a safe procedure.
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Weeks or months of irrigations may occasionally be needed.Some of these children may need an initial colostomy to adequately
decompress the dilated colon.
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Goals:? Remove the aganglionic bowel
? Reconstruct the intestinal tract by bringing the
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normal y innervated bowel down to the anus
? Preserve normal sphincter function.
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SURGICALMANAGEMENT
Name of surgery: Pul through procedure
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Stages:
? Single stage
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? Three stages: Level ing colostomy+ Pul throughprocedure + Colostomy closure
Swenson
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? The goal of the Swenson pull-through is to
remove the entire aganglionic colon, with an
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Procedureend-to-end anastomosis above the anal
sphincter.
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? Designed to avoid the risk of injury to
Soave
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important pelvic structures by performing a
Procedure
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submucosal endorectal dissection andpositioning the pull-through bowel within an
aganglionic muscular `cuff'
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? Involves bringing the normal colon down
Duhamel
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through the bloodless plane between the
rectum and sacrum, and joining the two
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Procedurewalls with a linear stapler to create a new
lumen which is aganglionic anteriorly and
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normally innervated posteriorly.
Other
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? Transanal pull through
approaches
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? Laparoscopic pull throughComplications
? Anastomotic leaks are the most common early complication of the Duhamel and
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Swenson techniques, at a rate of up to 11 per cent for the Swenson technique.? The management of a leak is usually to form an enterostomy and then allow
the anastomosis to heal.
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? Depending on the degree of anastomotic disruption, and subsequent
stricturing, redo pull-through ultimately may be required.
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? Cuff abscess or retraction of the proximal bowel may occur with the Soave
technique and increase the chance of long-term stricturing.
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? Voiding dysfunction may occur postoperatively with any of these operations.? Bladder innervation may be disrupted partly at the time of surgery, rather
than it being a congenital problem.
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? This is more common in older children and with the extensive pelvic
dissection of the Swenson technique
? Long-term complications include
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Long term
? anastomotic stricture
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complications? recurrent enterocolitis
? constipation
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? faecal incontinence
? Anal dilatation may be required in Soave's
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procedure and Swenson's procedure post-operatively for avoiding anastomotic stricture
Anastomotic
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? Stricture is very rare after the Duhamel
operation, where, alternatively, a rectal spur or
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stricturediverticulum may be left or may develop with
time.
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? Presents as recurrent enterocolitis,
constipation.
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? Division of the spur is required- Usuallydone endoanal approach.
Enterocolitis may occur at any time.
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Infectious agents such as Clostridium dificile orrotavirus have been postulated as being causative.
Enterocolitis
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The incidence does decrease with age.
Maturation of the gut mucosal immune defences
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may account for this decrease.Needs aggressive treatment.
? Constipations occurs most commonly because of
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? disordered motility in the residual colon or smal
bowel- Use of laxatives and prokinetic agents
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Constipation? internal sphincter achalasia- Internal
sphincterotomy, local application of botulinum
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toxin or nitroglycerine application
? functional megacolon caused by stool-holding
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behaviour- Bowel management by behaviourmodification
? Abnormal sphincter function may be due to
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sphincter injury during the pull-through.? There are two forms of abnormal sensation.
Faecal soiling/
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? The first is lack of sensation of a full rectum.
incontinence
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? Inability to detect the difference betweengas and stool
? Biofeedback training, dietary modifications are
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used for preventing faecal soiling.
? Overall survival has improved.
? Late deaths are due to:
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? Recurrent enterocolitis
? Associated comorbidities
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