Diagnosis of Hirschsprung's disease in children: Preliminary evaluation of a novel endoscopic technique for rectal biopsy

Abstract

Background and AimThe diagnosis of Hirschsprung's disease (HD) relies on anorectal manometry and rectal biopsy. The role of endoscopic biopsy is uncertain for the diagnosis of HD in children. In this study, we evaluated the adequacy of biopsies procured by endoscopic mucosal resection (EMR) for the diagnosis of HD.MethodsConsecutive children with suspected HD from January 2013 to January 2018 were enrolled in the study. EMR was performed using the standard band ligation device at a distance of about 3 cm from dentate line in rectum. All samples were assessed macroscopically and microscopically. An adequate sample was defined as those measuring >3 mm and including adequate submucosa.ResultsA total of 132 children underwent evaluation for constipation in the study period. Of these, 10 children (median age, 4.25 years) underwent EMR using the band ligation device for the evaluation of HD. EMR was performed with and without submucosal lifting injection in four and six children, respectively. All the samples were adequate macroscopically (>3 mm). Absence of ganglion cells was noted in six children. Of these, three children underwent full‐thickness rectal biopsy followed by surgery. Three children did not undergo surgery. Ganglion cells were identified in four children, thereby excluding the diagnosis of HD.ConclusionRectal biopsy using EMR with a band ligation device is feasible, safe, and provides adequate sample for the evaluation of HD in children.

Submucosal endoscopy: the present and future

“…The technique of endoscopic biopsy has previously been described by the authors of this review. 82 , 83 The subsequent steps are similar to esophageal POEM and include mucosal incision and submucosal tunneling until the predetermined extension of the aganglionic segment followed by myotomy and closure of the mucosal incision with endoclips ( Fig. 7 ).…”

Third-Space Endoscopy: Recent Updates

“…65 The first and foremost step involves mapping of aganglionic segment by analyzing serial biopsies obtained using the technique of band assisted endoscopic mucosal resection (EMR) described by Nabi and colleagues. 68,69 Although band EMR can be performed along different orientations along the rectosigmoid colon, posterior site should be avoided to circumvent submucosal fibrosis during posterior myotomy. The actual procedure is performed under general anesthesia with the patient in a semi-jackknife position.…”

Pediatric Endoscopy, Update 2020

“…Another indication is Hirschsprung disease. For confirmation of the disease, a new technique of endoscopic full thickness resection could be used [83,84]. Polyps can be seen in 6.1% of all colonoscopies in children and 12% of children with rectal hemorrhage [35,85,86].…”

“…The FTRD-system (full-thickness resection device) is able to resect tissue containing all rectal or colonic wall layers with simultaneous closure of the perforation of the bowel. This novel endoscopic procedure, which uses an over-the-scope-clip system, can replace surgery for that purpose [83,84]. The size of the instrument and its passage through the sigmoid are still problematic.…”