Hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal intestine, resulting in functional obstruction. It is caused by a defect in the migration of neural crest cells during development. This leaves the distal intestine unable to relax and pass stool. Symptoms include delayed passage of meconium in newborns and chronic constipation in older children. Diagnosis is made through rectal biopsy showing lack of ganglion cells. Treatment involves surgically removing the aganglionic segment and reconnecting the bowel.

1. Rajiv Lal
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Hirschsprung Disease

2.  Hirschsprung disease is a developmental disorder
characterized by absence of ganglia in the distal
intestine, resulting in a functional obstruction
 Most common cause of lower intestinal obstruction in
neonates.

3. Pathophysiology
 Defect in the craniocaudal migration of neural crest
cells (precursors of enteric ganglion cells)
 Absence of ganglion cells in the myenteric and
submucosal plexus
 Motor disorder of the gut
 Aganglionic segment of colon becomes nonfunctional.
 Proximal bowel segment becomes dilated (congenital
aganglionic megacolon)

5. The aganglionosis usually starts at the internal anal
sphincter and then extends proximally to
 Rectosigmoid area in about 80% (short segment
disease)
 Beyond sigmoid colon in 15-20%( long segment
disease)
 Whole colon 5% (total colonic aganglionosis)

6. Epidemiology
 Approximately 1/5000 live births
 Male to female ratio of 4:1 (SSD)
1:1(TCA)
 3% recurrence risk for siblings (SSD)
 Inc length of aganglionic segment….. RR to
siblings also inc and is almost 20% for TCA
 Association with genetic syndromes: downs
syndrome (10%), multiple endocrine neoplasia
type 2A, shah-waardenburg, santos, haddad.

7. Clinical features
Majority are diagnosed in the neonatal period
 Delayed passage of meconium greater than 48hrs of life
 Abdominal distension
 Bilious vomiting
 Constipation
 Poor feeding
 Squirt sign or blast sign- explosive expulsion of gas and stool after DRE
In older Infants or childhood
 Chronic constipation
 Abdominal distension
 Wasting
 Failure to thrive

8. If complicated by Enterocolitis
 Fever; vomiting; abdominal distension;
dehydration; peritonitis; explosive, foul-smelling
and sometimes bloody stool.

9. Diagnosis
Suction Rectal biopsy (gold standard)
 Full thickness biopsy
 2cm above the dentate line
 Dx- absence of ganglion cell.
 Supportive findings – hypertrophic nerve fibers,
elevated Acetlycholinesterase activity

10.  Distended loops of
bowel , decreased
or absent air in the
rectum

11. Barium enema
 Transition zone – change from the aganglionic segment
to the proximal dilated colon, is pathognomic of HD.

12. Anorectal manometry
 Lack of relaxation of the internal anal sphincter
with balloon rectal distension is suggestive of HD.
 PPV of 75-95%
 Less accurate in infants younger than 1/12.

13. Treatment
 Resuscitation
 NBM
 IV LINE
 NG TUBE
 HYDRATION, ELECTROLYTE IMBALANCE
 URETHRAL CATHETER
 Antibiotics – ampicillin, gentamycin, flagly
Surgery- mainstay of treatment. Goal are to resect
the aganglionic segment, bring the normal bowel
close to the anus and anastomose, and preserve
internal anal sphincter function.

14. complications
 Intra-op
 Anaesthetic complications
 Hemmorage
 Post-op
 Fecal incontinence
 Constipation (stricture, inc internal anal sphincter
tone)
 Enterocolitis
 Anastomotic leak,

15. Differentials
 Meconium ileus
 Meconium plug syndrome
 Atresias of the distal ileum and proximal colon
 Necrotising enterocolitis
 Hypothyroidism