Hirschsprung's disease by dr abhinav kesarwani

1. HIRSCHSPRUNG'S
DISEASE
By:
Dr Abhinav Kesarwani

2. It was first described in 1888 by Harald
Hirschsprung (1830-1916): paediatrician, Denmark

3.  INTRODUCTION
 Hirschsprung's disease (HD) is a congenital disease in
which there is a lack of intrinsic nerves (ganglion cells) in
the distal segments of the intestinal tract.
 These abnormal segments produce mechanical obstruction
because of failure to relax during peristalsis.
 Hirschsprung's disease always starts in the anal verge, but
the length of the segment without ganglion cells
(aganglionic) varies: it is limited to the rectum and sigmoid
in 75% of patients; involves the whole colon in 8%; and
rarely involves the small bowel.
 The incidence of Hirschsprung's disease varies from 1 in
5,000 to 1 in 10,000 live births.
 The diagnosis is established in 15% within the first month
of life, in 40-50% in the first 3 months, in 60% at the end
of the first year of age, and in 85% by 4 years.

5. During normal fetal development cells from neural crest migrate
into the large intestine to form the network of nerves called
Auerbach’s plexus (Muscularis externa) and
Meissner’s plexus ( submucosa)
-Occurs in the end of first trimester
-Lack of these nerves causes failure of relaxation of the
involved part of the colon.
-Also supplied by sympathetic nerves, and intrinsic
component (enteric nervous system)
Embryology

6. HD, due to failure of neural crest cells to migrate
caudally
Aganglionosis begins at anorectal line
(internal anal sphincter)

7. Types
1. Congenital :
Commonest
 Etiology of the disease is still unknown but Genetic factors are
now identified(10th chromosome, RET-protooncogene,
Endothelin B gene)
 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).

8. Presentation
In newborns
-95% Failure to pass meconium in first 24hrs life
-Abdomen distension
-Vomiting (bilious)
-Constipation or gas
-Diarrhoea
In older children
-Chronic constipation
-Abdomen distention
-Failure to thrive
-10-15% - severe diarrhea alternating with constipation—
enterocolitis of Hirschsprung’s disease

9. Associated disorders
Associated anomalies do occur in nearly 20% of cases
Down’s Syndrome(5-15%)
Urogenital Abnormalities
Cardiovascular Abnormalities
Congenital deafness
Malrotation, Gastric diverticulum or Intestinal atresia
Waardeberg Syndrome

10. Waardeberg syndrome
An inherited auotosomal dominant disorder
-hearing loss
-Pigmented anomalies affecting the eyes, hair, skin and various
defects of neural crest derived tissues

11. Diagnosis
History:
failure to pass meconium, painless abdomen distension
& constipation)
Physical examinations:
Distended abdomen with Multiple fecal masses on
abdominal examination
On Rectal Examination characteristically there is
Hypertonic Anal sphincter
Rectum is typically empty.
Hard fecal mass.

12. 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.

14. Barium Enema
-Less sensitive for detecting short lesions, total
colon aganglionosis, and disease of the newborn
-Many newborns do NOT show definitive transition
zone
-Delayed evacuation of contrast

17. Electromanometry:
-The classic finding is the absence of the recto anal inhibitory
reflex when the rectum is distended.
(Lack of internal anal sphincter relaxation in response to rectal
stretch), ballooning
-not useful in neonate
-excellent screening tool in infant & children
Rectal biopsy :
-Definitive diagnostic test
-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.
UltraSonography: for associated anomalies.

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

20. Management
Acute I.O.
-NGT ,
-IVF ,
-Antibiotics ,
-Rectal tube irrigations .
-The initial treatment requires performing a colostomy.
( multiple seromuscular biopsies)
Note: The colostomy is placed above the transition zone.
Placement in an area of aganglionosis will lead to persistent
obstruction.
Definitive treatment will be planned.
Chronic constipation :
-Laxative
-Saline enema.
-Work up to establish the diagnosis
-Definitive treatment will be planned

21. Definitive Procecdures
By the age of 6-12 months; 9kg or more), a formal pull-
through procedure is done
1) Open surgery :
There are many surgical options for Pull-through
operation.
All aiming at resection of aganglionic segment
They give excellent result in 90%.
a. Swenson
b. Soave
c. Rehbein
d. Duhamel
e. Boley's

22. 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
anal canal
-Completely removes
defective aganglionic colon

23. Duhamel Procedure
-Posterior portion of defective
colon segment resected
-Side to side anastamosis to
left over portion of rectum
-Constipation a major problem
due to remaining aganglionic
tissue.
-Simpler operation, less
dissection.

24. 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,
diarrhoea, often requires repeated
dilations

25. Overall Mortality:
-Swenson procedure: 1-5%
-Duhamel procedure: 6%
-Soave procedure: 4-5%
Operative Complications
-Leak at anastamosis: 5-7%
-Postop Enterocolitis: 19-27%
-Constipation
-Stricture Formation
-Incontinence

26. 2) LAPAROSCOPY:
Transanal endorectal pullthrough
-Excised aganglionic tissues removed through anal canal
-no abdominal incision
-Better results in terms of pain, return of bowel function, shortens
hospital stay
-Similar incidence of leaks, pelvic abscesses, enterocolitis.

29. One vs Two Stage procedure
Early complications: No difference in incidence of anastomotic
leak, pelvic infection, prolonged ileus, wound infection, wound
dehiscence
Late complications: No difference in incidence of anastomonic
stricture, late obstruction, constipation, incontinence, urgency
Postoperative enterocolitis higher in 1 stage (42% vs 22%)

31. Thank you