Hirschsprung Disease is a developmental disorder characterized by the absence of ganglion cells in the distal rectum, leading to functional intestinal obstruction and megacolon. It has an incidence of 1 in 1500-5000 births. The pathophysiology involves absent ganglion cells in the rectum causing overactivity of adrenergic receptors, spasticity of the rectum, failure of relaxation, accumulation of meconium in the proximal colon and progressive dilatation. Diagnosis involves x-rays, contrast enemas, rectal biopsies and manometry showing absent rectoanal inhibitory reflex. Treatment consists of multi-stage surgery including colostomy followed by a pull-through operation such as Swenson

1. Hirschsprung Disease
MAGDI AHMED LOULAH
PROFESSOR OF PEDIATRIC SURGERY, MENOUFIA UNIVERSITY

2. Hirschsprung disease
 HD is a developmental disorder characterized by absence of ganglion cells in the
distal rectum leading to functional intestinal obstruction and megacolon.
 Incidence: 1: 1500-5000

3. Hirschsprung’s
disease
pathophysiology
- Absent ganglion cells in
the distal colon
(Rectum).
- Over activity of the
adrenergic receptors
- Spasticity of the rectum
and failure of relaxation
- Accumulation of
meconium in the
proximal colon and
progressive dilatation
- Enterocolitis

4. Histopathology
Absence of
ganglion
cells.
Hypertrophy
of nerve
terminals
(arrows).
Immunostaini
ng: L-
calretinin
and

5. Clinical features
 Delayed passage of meconium
 Abdominal distention
 Vomiting
 Examination
 Dry anus
 P/R empty rectum with passage of a gush of meconium on extraction of your finger

6. Investigations
 Plain erect X-Ray
 Contrast enema in AP ant Lateral position
 Rectal biopsy
 Anorectal manometry : absent RAIR reflex

8. Treatment
 Multistage surgery
 First stage: colostomy
 Second stage: Pullthrough operation
 Swenson pullthrough
 Duhamel Pullthrough
 Soave pullthrough
 One stage transanal pullthrough operation.
 Soave pullthrough
 Swenson pullthrough