Hirschsprung's disease: a viral etiology?

This study investigates the hypothesis that Hirschsprung's disease (HD), congenital rectal aganglionosis, may be etiologically linked to antenatal cytomegalovirus (CMV) infection. Bowel specimens from 72 HD patients, 144 control I infants (Hirschsprung-like symptoms, normal histology), and 36 control II infants (deaths from nongastrointestinal causes) were analyzed for CMV genomes by polymerase chain reaction. Positive results were obtained in 6 HD patients (8.8%) and none of the controls. Our findings suggest that antenatal CMV infection, a potentially preventable condition, may be one of the etiological factors in HD.