Update Course Rewind 2025: Hirschsprung + ARM: Rare but Real

The rate of Hirschsprung disease and anorectal malformation occurring together is less than 2%

The co-occurrence of Hirschsprung disease and ARM is something to keep in mind for patients with trisomy 21

Ganglion cells were found in 91% of rectal fistula specimens

Hypo or absent ganglion cells were found in the remaining rectal fistula specimens

Absent ganglion cells in fistula tissue does not necessarily mean the patient has Hirschsprung disease

Three patients (4% of the study cohort) had both Hirschsprung disease and anorectal malformation

Two of the three patients with both conditions had trisomy 21

Complex anorectal malformation patients with chromosomal anomalies who do not respond to laxatives or enemas should be worked up for Hirschsprung disease