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

A single-center study examined rectal fistula specimens obtained during posterior sagittal anorectoplasty (PSARP) procedures

Rectal fistula tissue is not physiologic tissue

Ganglion cells were found in 91% of rectal fistula specimens

Hypo or absent ganglion cells were found in the remaining specimens (9%)

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

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

Two of the three patients with both conditions also had trisomy 21

Patients who have both Hirschsprung disease and ARM tend to have chromosomal anomalies

Chromosomal anomalies associated with both conditions include trisomy 21, Pallister-Killian syndrome, and others

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