Hirschsprung Disease Flashcards
What is Hirschsprung disease?
A congenital condition of the bowel where there is partial/complete colonic functional obstruction
What is the incidence of Hirschsprung disease?
1.65 per 10,000 live births
When are most cases of Hirschsprung disease diagnosed?
In the 1st year of life
What is the male:female ratio of Hirschsprung disease?
2:1
What is the pathophysiology of Hirschsprung disease?
Absence of parasympathetic ganglion cells in the myenteric and submucosal plexus of rectum –> narrow contracted segment of bowel –> extends from rectum and is of variable distance
With what endocrinological syndromes does Hirschsprung disease have an association?
MEN2A
MEN2B
With what chromosomal syndrome does Hirschsprung disease have an association, and what % of children with HD also had it?
Down syndrome
15% of patients with HD
When do most patients with Hirschsprung disease present?
In the neonatal period
What is the presentation of Hirschsprung disease?
Obstruction (abdo distension)
Failure to pass meconium within the 1st 48 hours
Bile-stained vomiting
Enterocolitis
What is the presentation of Hirschsprung disease in older children?
Chronic constipation Overflow incontinence (rare, but distinguishes from functional constipation) Enterocolitis
What is enterocolitis?
Abdo pain Fever Foul smelling ± bloody diarrhoea Vomiting Has a high mortality
What investigations would you do for Hirschsprung disease?
Imaging (AXR, double contrast barium enema)
Rectal biopsy
Anorectal manometry
What would a positive AXR look like for Hirschsprung disease?
Obstruction
What would a double-contrast barium enema show in Hirschsprung disease?
Dilated proximal colonic segment
Narrowed distal colonic segment
What would a rectal biopsy show in Hirschsprung disease?
Absence of ganglion cells in myenteric plexus
Large acetylcholinesterase-positive nerve trunks