Ultrashort-segment Hirschsprung's disease complicated by megarectum: A case report

Abstract

Ultrashort-segment Hirschsprung's disease (USHD) is a rare variant of HD that is controversial in terms of diagnostic criteria and acceptable therapy. Idiopathic megarectum, also known as an intractable idiopathic constipation, is a functional disorder, which ordinarily is not surgically treated. Reported herein is a case of USHD complicated by a megarectum. The patient was an 8-year old male who presented with long history of constipation and abdominal distension. Contrast enema revealed massive dilatation of rectum, with no discernible transition zone. Absence of ganglion cells in a full-thickness rectal biopsy taken 2 cm proximal to the dentate line confirmed a diagnosis of USHD. The entire length of dilated bowel (delineated on preoperative contrast enema) was resected, using a Soave type transanal approach, with pull-through of ganglionated normal-caliber colon. In instances of USHD where megarectum prohibits use of technically less rigorous procedures (i.e., Duhamel pull-through or internal sphincter myectomy), a Soave type transanal pull-through may be a reasonable alternative. • Reported herein is a case of ultrashort-segment HD (USHD) complicated by megarectum. • Rectal full-thickness biopsy confirmed the diagnosis of USHD. • Transanal endorectal pull-through procedure was elected. • Complete resection of the megarectum, pull-through of normal caliber colon is the key.