Download MBBS (Bachelor of Medicine, Bachelor of Surgery) 1st Year, 2nd Year, 3rd Year and Final year Pediatric Surgery 12 Hirschsprungdisease PPT-Powerpoint Presentations and lecture notes
HIRSCHSPRUNG'S
DISEASE
Introduction
Incidence and spectrum of disease
Etiology and genetic basis of disease
Clinical Presentation and diagnosis
Pre-operative preparation
Surgical management
Post-operative management
Long term outcomes
Also known as congenital megacolon.
Characterised by absence of ganglion
Introduction
cells in the myenteric (Auerbach) and
submucosal (Meissner)plexus of the
intestine.
In 1887, Harald Hirschsprung, a
paediatrician from Copenhagen,
described two cases of the condition
that ultimately bore his name.
Occurs in approx. 1 in 5000 live
births.
Most commonly extent of
Incidence and
involvement is rectosigmoid- 80%
spectrum of
disease
Proximal colon involvement- 10%
Total colon involvement with part
of distal ileal involvement- 5-10%
Male to female ratio=
4:1
For total colonic
aganglionosis, male to
female ratio= 1:1
Ganglion cells are derived from the
neural crest.
Etiology and
By 13 weeks post-conception, the
genetic basis
neural crest cells have migrated from
proximal to distal through the
of disease
gastrointestinal tract
Differentiation into mature ganglion
cells.
Two theories
Early maturation of neural
Inhospitable micro-
crest cells before reaching
environment for neural
distal part of colon and
crest cells in the distal
rectum.
bowel leading failure of
survival of neural crest cells.
? Most common gene involved is RET proto-
oncogene. (Probably early cell death)
? Other genes are:
Genetics
? SOX-10 genes (probably early maturation)
? S1P1
? Phox 2B
? Hedgehog notch complex.
Trisomy 21
Associated
Opitz syndrome
syndromes
Congenital central hypoventilation
and
syndrome
conditions
Neurofibromatosis
Neuroblastoma
Prenatal diagnosis is rare.
Most affected patients present in the
CLINICAL
neonatal period
PRESENTATION
? Abdominal distension
AND
? Bilious vomiting
? Feeding intolerance
DIAGNOSIS
? Delayed passage of meconium beyond the first
24hours (90%)
? Prolonged passage of meconium
Occasional caecal or appendiceal
perforation.
Radiology
? Plain abdominal X-rays- Dilated loops of bowel
and absence of air in the pelvic region.
? Contrast enema or Barium enema-
? Presence of transition zone between normal
and aganglionic bowel
? Retention of the contrast beyond 24hours
Rectal biopsy using suction
technique and histopathology
showing absence of the
ganglion cel s is pathognomic.
Most patients wil also have
evidence of hypertrophied
nerve trunks
Chronic constipation with presence of meconium
history
Usual y on and off constipation is present til the
child is on breast feeds but, it becomes profound
Presentation
once weaning is started.
in late infancy
Failure to thrive
Dependence on laxatives and enemas for
constipation
Distended bowel loops
X-rays
abdomen
Reversal of rectosigmoid
ratio and retention of
contrast on a 24hours post
evacuation film.
Anorectal manometry
The recto-anal inhibitory reflex (RAIR) is defined as reflex
relaxation of the internal anal sphincter in response to
rectal distension and is present in normal children but
absent in children with Hirschsprung disease.
The RAIR can be documented using anorectal manometry
by inflating a bal oon in the rectum while simultaneously
measuring the internal sphincter pressure.
A- Normal child
B- Hirschsprung's disease
Older children
In older children, the suction
rectal biopsy may be less
reliable because of a higher
risk of sampling error.
Full-thickness biopsies,
usually under general
anesthesia, may be
necessary in these patients.
Approximately 10% of neonates present with fever,
abdominal distention, and diarrhea due to Hirschsprung
-associated enterocolitis (HAEC)- can be life-threatening.
Hirschsprung-
Since HD characteristically causes constipation rather
than diarrhea, this presentation may be confusing and
associated
the diagnosis may not be considered.
enterocolitis
A careful history, including a history of delayed passage
of meconium and intermittent stooling, should lead to
(HAEC)
an investigation for HD.
Aggressive treatment with IV fluids and IV antibiotics is
done.
Rectal irrigations do not help.
Long segment
Needs a diverting colostomy or
involvement
ileostomy to relieve obstruction.
Barium enema shows- Question
Mark sign.
Question
mark sign
Hematoxylin and eosin
Stains for Acetylcholinesterase
Immunological staining with calretinin
Histopathology
The gold standard for the diagnosis is the absence of
ganglion cel s in the submucosal and myenteric
plexuses on histological examination.
Most patients wil also have evidence of
hypertrophied nerve trunks.
PREOPERATIVE PREPARATION
? Once the diagnosis of HD is made, the child should be
? appropriately resuscitated with intravenous fluids
? treated with broad-spectrum antibiotics
? Nasogastric drainage
? rectal decompression using rectal stimulation and/or irrigation.
Once the infant or child has been resuscitated and
stabilized, the operation can be done semi-
electively.
While waiting, many infants can be discharged
home on breast milk or an elemental formula, in
combination with rectal stimulations or irrigations.
In the older child with an extremely dilated colon, pull-through
should be delayed until the diameter of the colon has decreased
sufficiently to perform a safe procedure.
Weeks or months of irrigations may occasionally be needed.
Some of these children may need an initial colostomy to adequately
decompress the dilated colon.
Goals:
? Remove the aganglionic bowel
? Reconstruct the intestinal tract by bringing the
normal y innervated bowel down to the anus
? Preserve normal sphincter function.
SURGICAL
MANAGEMENT
Name of surgery: Pul through procedure
Stages:
? Single stage
? Three stages: Level ing colostomy+ Pul through
procedure + Colostomy closure
Swenson
? The goal of the Swenson pull-through is to
remove the entire aganglionic colon, with an
Procedure
end-to-end anastomosis above the anal
sphincter.
? Designed to avoid the risk of injury to
Soave
important pelvic structures by performing a
Procedure
submucosal endorectal dissection and
positioning the pull-through bowel within an
aganglionic muscular `cuff'
? Involves bringing the normal colon down
Duhamel
through the bloodless plane between the
rectum and sacrum, and joining the two
Procedure
walls with a linear stapler to create a new
lumen which is aganglionic anteriorly and
normally innervated posteriorly.
Other
? Transanal pull through
approaches
? Laparoscopic pull through
Complications
? Anastomotic leaks are the most common early complication of the Duhamel and
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.
? Depending on the degree of anastomotic disruption, and subsequent
stricturing, redo pull-through ultimately may be required.
? Cuff abscess or retraction of the proximal bowel may occur with the Soave
technique and increase the chance of long-term stricturing.
? 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.
? This is more common in older children and with the extensive pelvic
dissection of the Swenson technique
? Long-term complications include
Long term
? anastomotic stricture
complications
? recurrent enterocolitis
? constipation
? faecal incontinence
? Anal dilatation may be required in Soave's
procedure and Swenson's procedure post-
operatively for avoiding anastomotic stricture
Anastomotic
? Stricture is very rare after the Duhamel
operation, where, alternatively, a rectal spur or
stricture
diverticulum may be left or may develop with
time.
? Presents as recurrent enterocolitis,
constipation.
? Division of the spur is required- Usually
done endoanal approach.
Enterocolitis may occur at any time.
Infectious agents such as Clostridium dificile or
rotavirus have been postulated as being causative.
Enterocolitis
The incidence does decrease with age.
Maturation of the gut mucosal immune defences
may account for this decrease.
Needs aggressive treatment.
? Constipations occurs most commonly because of
? disordered motility in the residual colon or smal
bowel- Use of laxatives and prokinetic agents
Constipation
? internal sphincter achalasia- Internal
sphincterotomy, local application of botulinum
toxin or nitroglycerine application
? functional megacolon caused by stool-holding
behaviour- Bowel management by behaviour
modification
? Abnormal sphincter function may be due to
sphincter injury during the pull-through.
? There are two forms of abnormal sensation.
Faecal soiling/
? The first is lack of sensation of a full rectum.
incontinence
? Inability to detect the difference between
gas and stool
? Biofeedback training, dietary modifications are
used for preventing faecal soiling.
? Overall survival has improved.
? Late deaths are due to:
? Recurrent enterocolitis
? Associated comorbidities
This post was last modified on 08 April 2022