Hirschsprung's disease is a congenital condition in newborns characterized by the absence of intramural ganglion cells in the anorectum, which can affect varying lengths of the colon. It presents with symptoms such as delayed meconium passage and abdominal distention, primarily in males, and can be associated with genetic disorders. Diagnosis is confirmed through imaging, biopsies, and anorectal manometry, with treatment often requiring colostomy and surgical excision of the aganglionic segment.

1. Hirschsprung’s Disease
Sunil Kumar daha

2.  congenital, familial condition, occuring in newborn due to the
abscence of intramural ganglion cells (Auerbachs’s plexus and
Meissner’s plexus) in anorectum.
 May extend proximally either a part or full length of the colon.
 abscence of ganglionic cells is due to failure of migration of
vagal neural crest cells into the developing gut.
Introduction

3. Types
1. Short segment- aganglionisis restricted to the rectum and
sigmoid colon (in 75% patient)
2. Long segment- involves the proximal colon (in 15% patient)
3. Total colonic- involves entire colon and portion of terminal
ileum. (in 10% patient)

4. Zones
 It has got 3 zones:
1. Aganglionic zone-
- Distal immobile spastic smegment
2.Transitional Zone-
- Proximal, middle, about 1-5cm length with less ,sparse
number of ganglions (Cone).
3.Hypertrohied dilated segment-
- More proximal, normal ganglionic area.

5.  A transition zone exist betweeen dilated,
proximal,normally innervated bowel and the
narrow, distal aganglionic segment

6. Aetiology
 Hirschsprung’s disease may be familial or associated with
Down Syndrome or other genetic disorder.
 Gene mutation have been identified on chromosome 10
(involving RET proto oncogene) and on chromosome 13 in
some patient.
 Typically present in the neonatal period with delayed passage
of Meconium

7. Presentation
- Acute , recurrent, chronic
- Common in male (80 %)
- Incidence is 1 in 5000 birth
- Common in infant and children, occasionally in adult also
- 90 % of cases, symptoms appear in early neonatal period, i.e
with in 3 days of birth.
- Fail to pass meconium, after introducing finger into rectum,
child passes toothpaste like stool

8. Clinical features
 Typically present in the neonatal period with;
1) Delayed pasasge of Meconium
2) Abdominal distention
3) Bilious vomitting
 In children passage of goat pellet like stools associated with
malnutrition and chronic constipation
 Rectal examination shows tight sphincter with empty rectum.
Child passes lot of gas and Meconium.

9. Diagnosis
1) Plain abdominal X-ray- to see intestinal obstruction
2) Biopsy- fom all 3 zones to study ganglions and hypertrophic
nerve terminals in spasmodic segment
3) Barium enema- to look for extent of disease and 3 zones
4) Anorectal manometry- Shows the abscence of recto anal
reflex in Hirschsprung’s disease (Diagnostic)
5) Acetylcholine esterase staining shows hypertrophied nerve
bundles

10. X- RAY
1.

11. Complication
1) Colitis ( intramucosal gas in plain X-ray)
2) Intestinal obstruction
3) Growth retardation
4) Constipation
5) Perforation
6) Peritonitis
7) Septicemia

12. Treatment
 Intially colostomy is done to have normal bowel function.
 Nutritional supplementation
 Definitive procedure is done once the child attains 10 kg of
weight.
1. Excision of Aganglionic segment
2. Maintainance of Continuity by doing colo-anal anastomosis.
3. Closure of Colostomy

13. Common Surgical procedure
1. Duhamel operation
2. Soave’s mucosectomy
3. Colo-anal anastomosis
4. Swenson’s operation
5. Ano-rectal myectomy
The end