Hirschprung's Disease
last authored: Oct 2009, Dave LaPierre
Introduction
Hirschprung's disease, or congenital aganglionic megacolon, is a developmental failure of normal innervation of the distal colon by mesenteric plexus ganglionic cells. Denervation begins at the anus and extends to a varying degree proximal.
As a result, the colon remains contracted and constipation results from functional obstruction.
It occurs in 1:5000 births, with a M:F of 3:1.
The Case of...
Causes and Risk Factors
Autosomal dominant with variable penetrance.
Pathophysiology
Aganglionosis
Signs and Symptoms
- history
- physical exam
History
No meconium is passed within the first 24 hours of life.
Constipation, abdominal distension, vomiting, intermitent diarrhea, and failure to thrive can result.
Physical Exam
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Rectal biopsy is the definitive diagnosis, showing an absence of ganglion cells.
Diagnostic Imaging
Diagnosis is made by barium enema, showing proximal dilation and an empty rectum.
Differential Diagnosis
Treatments
Surgery is not required if the agangionic segment is short, and fibre, fluids, and mineral oil may suffice.
If surgery is indicated, temporary colostomy, followed by re-anastamosis, is performed.
Consequences and Course
Enterocolitis has a peak incidence of 2-3 months of age and can be fatal.
Toxic megacolon and perforation are also possible.
Resources and References
Topic Development
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