Rectal Biopsy for the Diagnosis of Hirschsprung’s Disease

Abstract

The diagnosis of Hirschsprung’s disease (HSCR) can be difficult as it relies on histological confirmation of complete absence of enteric ganglion cells in the myenteric and submucosal plexuses of the distal rectum, which extends proximally for varying distances. Today, rectal suction biopsy (RSB) is widely considered to be the gold standard in the diagnostic work-up of patients with suspected HSCR, allowing specimens to be taken safely without general anesthesia on the ward or as an outpatient procedure. However, some histopathologists remain reluctant to confirm the presence or absence of enteric ganglion cells merely on the basis of RSBs, as it necessitates a thick specimen with enough submucosal tissue to be considered as adequate. Consequently, insufficient tissue samples are not uncommon and often result in a diagnostic delay with need for repeat RSB or open rectal biopsy, causing considerable parental anxiety, prolonged hospital stay, and increased costs. Although very rare, serious complications such as rectal bleeding, bowel perforation, and pelvic sepsis have been reported, which in turn add a further risk to the patient. Nevertheless, RSB is a simple, safe, and accurate method for the diagnosis of HSCR.