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 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

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

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

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