Adults Hirschsprung's disease, a call for awareness. A Case Report and review of the literature

Abstract

Hirschsprung's disease (HD) is an uncommon condition in adulthood; the term adult HD denotes diagnosis after the age of ten. Patients suffer from constipation for many years before the diagnosis is established. They have very characteristic radiologic findings; however, the diagnosis is confirmed with full thickness biopsies. We describe the case of a 19-year-old Caucasian female patient from Southeast Missouri with a history of chronic constipation who was referred to the General Surgery Department by her primary care provider (PCP) due to massive colonic and rectal dilation in an abdominal CT scan. After rectal biopsies were performed the diagnosis of Hirschsprung's disease was confirmed. She was referred to a tertiary center where she underwent a colo-anal pull through procedure. She has been doing well for three years. Diagnosis of this condition can be very challenging, hence the need for clinical suspicion, good quality biopsies and inter-specialty communication among PCPs, gastroenterologists, surgeons and pathologists. Surgery aiming to remove or bypass the aganglionic colonic or rectal segment is the standard of care; quality of life can be significantly improved after surgery.

Keywords: Adult’s Hirschsprung’s disease; Colonic Hypoganglionosis; Constipation.