Hirschsprung's disease is a congenital disorder caused by the absence of ganglion cells in parts of the colon, which prevents normal nerve function. It most commonly involves the rectum and sigmoid colon. Affected infants experience constipation or intestinal obstruction after birth. Diagnosis involves rectal biopsy and imaging tests. Treatment involves surgically removing the affected part of the colon and reconnecting the healthy ends, which often cures the condition. Complications can include infection, leakage at the connection site, or ongoing constipation issues.

1. Hirschsprung's disease
BY
RAMKUMAR

2. • Hirschsprung’s disease is the most common cause of lower
intestinal obstruction in neonates.
• Hirschsprung’s disease (aganglionic megacolon) is a
congenital anomaly caused by migratory failure of neural
crest cells leading to abnormal innervations of the bowel.
• The defect begins in the internal anal sphincter and
extends proximally for a variable length of gut
INTRODUCTION

3.  INCIDENCE: 15000 live birth newborn
 70-80% is boys. (M / F. 4: 1 )
 Less common in blacks.
EPIDEMIOLOGY

4.  The fundamental pathology in HD is the absence of ganglion
cells in the submucosal and intermuscular nerve plexuses and is
associated with an increase in the nerve fibers in the affected
segment .
 That aganglionic segment usually involves the terminal intestine,
i.e. the rectum or rectosigmoid. The aganglionic segment may,
however, include the entire large bowel and even small bowel..
PATHOPHYSIOLOGY

5.  The colon proximal to the aganglionic segment, in an effort
to overcome the partial obstruction, becomes distended
and its wall markedly thickened because of muscle
hypertrophy
 The degree of hypertrophy and dilatation depends upon
the duration and degree of obstruction and thus, indirectly
to the age of the patient.
PATHOPHYSIOLOGY

6. 1. Congenital : This type is the commonest one .
 Etiology of the disease is still unknown.but Genetic factors are now
identified.
 10% of cases have familial history, especially those with long
segment disease.
2. Acquired :
Degeneration of the ganglions may occur due to:
-Vascular causes like after pullthrough procedure due to
ischemia & tension.
- Non vascular causes like
Trypanosoma (chaga's disease).
Vit B1 def.
Chronic infection ( TB.).
TYPES

7.  HD is usually a solitary anomaly in a full term, otherwise healthy infant
 Associated anomalies do occur in nearly 20% of cases
 urogenital system (11%)
 cardiovascular system (6%)
 gastrointestinal system (6%),
 with 8% having various other malformations
 Prematurity is reported in as many as 10% of those children with HD
 Trisomy 21 occurs in approximately 5% of cases
ASSOCIATED ANOMALY

8. 1. Failure to pass meconium in the
1st 24h of life
98% of neonates pass meconium in the first 24 hours of
age.. Any newborn who fails to pass meconium in the first
24-48 hours of life should be evaluated for possible
Hirschsprung's disease.
2. Neonatal Intestinal obstruction
symptoms include bilious vomiting, abdominal distension
and refusal to feed.
3. Recurrent Enterocolitis
mainly in the 1st three months of life.
CLINICAL FEATURES

9. 4. TOXIC MEGACOLON :
Fever.
Abdominal distension.
Bile stained vomitous.
Explosive diarrhoea.
Dehydration.
Shock.
5. Spontanous perforation occurs in 3%,specially if
long segment aganglionosis.
6. Chronic constipation patients may have chronic
constipation in response to changes in feeding.
And may have Growth retardation. Multiple fecal
masses on abdominal examination.
CLINICAL FEATURES

10. History
failure to pass meconium, painless abdomenal
distension & constipation)
Physical examinations
Distended abdomen with Multiple fecal
masses on abdominal examination
on DRE characteristically there is
 Anal sphincter is hypertonic
 Rectum is typically empty.
 Hard fecal mass.
DIAGNOSIS

11. Radiology
1. Plain x-rays of the abdomen :Erect & supine
2. Contrast Enema.
Shows narrow distal segment,funnel-shaped dilatation at
level of transition zone with marked dilatation of the
proximal colon.
24-hrs delayed films is important in diagnosis; it shows
poor emptying with barium throughout the colon, as
opposed to the child with psychogenic stool holding
in whom the barium generally collects in the distal
rectosigmoid.
DIAGNOSIS

14. Rectal biopsy :
 Rectal biopsy is the definitive diagnostic
test and demonstrates absence of
ganglion cells, nerve hypertrophy and
stains indicating increased
acetylcholinesterase activity.
 suction mucosal biopsy (at different
levels ). Can be done without anesthesia
 full thickness biopsy is done under general
anesthesia.
DIAGNOSIS

15. Electromanometry :
 not useful in neonate
 excellent screening tool in infant &
children .
 The classic finding is the absence of
the recto anal inhibitory reflex when
the rectum is distended.
 A balloon is inflated in the rectum to
measure pressure in the area
UltraSonography: for associated anomalies
DIAGNOSIS

16. Treatment:
 Decompression: introduce a rectal tube and irrigation
 Colostomy
 Definitive procedures
 Closing of the stoma

17.  Chronic constipation :
 laxative
 saline enema.
 Work up to establish the diagnosis
 then the definitive treatment will be planned
Open surgery :
There are many surgical options for Pull-through
operation. All aiming at resection of aganglionic segment
and anastomosing the two normal ganglionic ends. They
give excellent result in 90%.
a.swenson.
b.soave.
c.Rehbein.
d. Duhamel.
e. Boley's

18. Treatment
Transanal Endorectal Pull-Trough
 It can be performed safely in infant as well
 Generally one-stage surgery
 No abdominal phase
 The anastomosis is happening in a „safe” place at the
pectinate line
Hirschsprung’s disease

19. Hirschsprung’s disease

20. 1. anastomotic leak.
2. stricture .
3. retraction of the colon.
4. fecal incontinence (soiling or encopresis ).
5. persistant constipation
COMPLICATION

21. Distinguishing features between childhood functional
constipation and Hirschsprung’s disease
Hirschsprung’s DiseaseFunctionalConstipationFeature
At birth2-3 yearsOnset
CommonRareDelayed passage of meconium
CommonRareObstructive symptoms
RareCommonWithholding behavior
RareCommonFear of defecation
RareCommonFear of incontinence
Small, ribbon-likeVery largeStool size
CommonRarePoor growth
PossibleNeverEnterocolitis
NarrowedEnlargedRectal ampulla
RareCommonStool in ampulla
Transitional zone, delayed
emptying
Lg amount of stools,
no transitional zone
Barium enema
Absent rectosphincteric refl exNormalAnorectal manometry
No ganglion cells, nerve hypertrophy
and increase acetylcholinesterase
activity
NormalRectal biopsy

22.  http://www.cincinnatichildrens.org/health/h/hirschsprung/
 https://www.nlm.nih.gov/medlineplus/ency/article/001
140.htm
 http://www.mayoclinic.org/diseases-
conditions/hirschsprungs-
disease/basics/definition/con-20027602
 https://en.wikipedia.org/wiki/Hirschsprung%27s_disea
se
 http://emedicine.medscape.com/article/178493-
overview
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