This document discusses the case of a newborn male patient presenting with symptoms of Hirschsprung's disease including abdominal distention and failure to pass meconium. Diagnostic testing revealed the absence of ganglion cells in the colon consistent with Hirschsprung's disease. The patient underwent an end colostomy and biopsy which confirmed the diagnosis. He recovered well and was discharged with plans for a future pull through surgery.

1. Hirschsprung’s Disease
R.K.Bagdi
Senior Consultant
Apollo Children;s Hospital

2. Patient S.C.
• Newborn male
• Full-term, uncomplicated vaginal
delivery
• Normal birth weight: 3115 g
• Apgars 91, 95
• Mother: 36 yo, G1P0, healthy

3. Patient S.C.
• Started breast feeding DOL 1
• DOL 2-3 noted to have increasing
abdominal distention
• No meconium passed in first 24 hrs of
life
• 1 episode Non-bilious emesis

4. Patient S.C.

5. Patient S.C.
• Pediatric Surgical Consult
• Rectal Exam
– Empty rectal ampulla
– Tight anal sphincter
– Large amount of stool and air upon
withdrawal of finger

6. Patient S.C.

7. Patient S.C.
• Rectal mucosal biopsy
– No ganglia identified

8. Patient S.C.

9. Patient S.C.
• Pt taken to OR for end colostomy and
Hartmann’s pouch
• Dilated descending and sigmoid colon
• Prominent colonic blood vessels
• Site of colostomy, frozen section of
colonic muscularis propria revealed
ganglion cells

10. Patient S.C.

11. Patient S.C.
• Postoperative course uneventful
• Stool from colostomy POD 1
• Tolerated breast feeding
• Discharged POD 6
• 2nd stage pull through procedure
planned in several weeks

12. Hirschsprung’s Disease
R.K.Bagdi
Apollo Children’s Hospital

13. Hirschsprung’s Disease
• Neurogenic form of intestinal obstruction
• Absence of ganglion cells in the myenteric
and submucosal plexus
• Failure in relaxation of the internal anal
sphincter and affected bowel
• Upstream bowel becomes dilated
secondary to functional obstruction

14. History
• 1691 Ruysch latin texts
• 1886 Harald Hirschsprung – autopsy
• 1901 Tittel – histologic findings
• 1949 Swenson – pathophysiology and
definitive operative treatment

15. Epidemiology
• Prevalence: 1/5000 births
• 3-5% of pts have Down’s syndrome
• Definite family history
• 80% affected are boys
• Total colonic aganglionosis, 35% girls
• >95% cases are full term babies

16. Pathogenesis

17. Pathogenesis
• Failure of neural crest cells to migrate caudally
• Aganglionosis begins at anorectal line
• 80% involve only rectosigmoid area
• 10% extend proximal to splenic flexure
• 10% involves the entire colon and part of small
bowel
• Rarely involves entire gastrointestinal tract

18. Pathogenesis—genetics
• 10th chromosome
• RET-protooncogene
• Endothelin B gene

19. Presentation

20. Presentation
• Severe abdominal distention
• 95% - failure to pass meconium in first 24
hours life
• Bilious vomiting
• Older children - constipation, failure to thrive
• 10-15% - severe diarrhea alternating w/
constipation—enterocolitis of Hirschsprung’s
disease

21. Diagnosis
• Abdominal plain X-rays
• Barium Enema
• Rectal Biopsies
• Anal manometry

22. Abdominal X-ray

23. Barium Enema

24. 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

25. Rectal biopsy
• Submucosal suction biopsy
– Meissner’s submucosal plexus
• Full thickness rectal biopsy
– Auerbach’s myenteric plexus
• Acetylcholinesterase staining
– increased staining of neurofibrils

26. Anorectal manometry
• Absent rectoanal inhibitory reflex
• Lack of internal anal sphincter
relaxation in response to rectal
stretch

27. Surgical Options
• Swenson Procedure (1948)
• Duhamel Procedure (1960)
• Soave Procedure (1963)

28. 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

29. Swenson Procedure

30. 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

31. Duhamel Procedure

32. 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

33. Soave Procedure

34. Soave Procedure
• Advantage: rectal intramural
dissection ensures no damage to
pelvic neural structures
• Higher rate enterocolitis, diarrhea
• Problems w/ cuff abscesses, often
requires repeated dilations

35. Overall Mortality
• Swenson procedure: 1-5%
• Duhamel procedure: 6%
• Soave procedure: 4-5%

36. Operative complications
• Leak at anastamosis: 5-7%
• Postop Enterocolitis: 19-27%
• Constipation
• Stricture Formation
• Incontinence

37. One vs Two Stage procedure
• Historically, two stage procedure
performed: preliminary colostomy, then
completion pull through
• Delicate muscular sphincters of newborn
may be injured
• 1980s, 1 stage procedures became more
popular

38. 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%)

39. Laparoscopic techniques
• Small studies of laparoscopic pull through
procedures
• Excised aganglionic tissues removed through
anal canal, no abdominal incision
• Better results in terms of pain, return of bowel
function, hospital stay
• Similar incidence of leaks, pelvic abscesses,
enterocolitis, postop bowel function