Hirschsprung disease and imperforate anus without fistula in a 5-year-old boy with Trisomy 21

Background Hirschsprung disease (HD) and anorectal malformations (ARM) occur in approximately 1 in 5000 live births. These conditions are associated with Trisomy 21 but their co-existence in a single patient is exceedingly rare. Case report A male infant was born at 36 weeks gestational age with Trisomy 21 and imperforate anus without fistula. He underwent divided colostomy, posterior sagittal anorectoplasty, and colostomy reversal as three …