Per rectal endoscopic myotomy for the treatment of adult Hirschsprung's disease: First human case (with video)

Abstract

Hirschsprung's disease (HD) is a congenital disorder characterized by the absence of intrinsic ganglion cells in submucosal and myenteric plexuses of the hindgut; and presents with constipation, intestinal obstruction and/or megacolon. HD commonly involves the rectosigmoid region (short segment HD), although shorter and longer variants of the disease are described. Standard treatment involves pull-through surgery for short segment HD or posterior anorectal myotomy in selected ultrashort segment candidates. Third space endoscopy has evolved during the past few years. Per oral endoscopic myotomy and per oral pyloromyotomy are described for treatment of achalasia cardia and refractory gastroparesis, respectively. Using the same philosophy of muscle/sphincter disruption for spastic bowel segments, per rectal endoscopic myotomy could be considered as a treatment option for short segment HD. A 24-year-old male patient presented with refractory constipation since childhood, and habituated to high-dose laxative combinations. Diagnosis was confirmed as adult short segment HD by barium enema, colonoscopic deep suction mucosal biopsies and anorectal manometry. Histopathology confirmed aganglionosis in the distal 15 cm. By implementing principles of third space endoscopy, per rectal endoscopic myotomy 20 cm in length was successfully carried out. At 24-week follow up, the patient reported significant relief of constipation and associated symptoms. Sigmoidoscopy, anorectal manometry and barium enema confirm improved rectal distensibility and reduced rectal pressures. The present case report describes the first human experience of per rectal endoscopic myotomy for successful treatment of adult short segment HD.

Per-rectal endoscopic myotomy (PREM) for pediatric Hirschsprung’s disease

“…3). A full-thickness posterior myotomy was performed, starting inside the anorectal junction and extending 10 cm proximally, using the technique described in our earlier report [3] (▶ Fig. 4; ▶ Video 1).…”

“…Standard treatment includes single-or multi-stage pull-through surgery [2]. We have previously reported per-rectal endoscopic myotomy (PREM) for adult Hirschsprung's disease [3]. The rationale of this is to disrupt the spastic bowel segments, like those in achalasia or pylorospasm are disrupted by peroral endoscopic myotomy (POEM) or pyloromyotomy (G-POEM) [4,5].…”

“An Odyssey of Third Space Endoscopy”—from Entry into the Tunnel to Entry into the Peritoneal Cavity

“…6 Subsequently in 2016, Bapaye et al introduced per rectal endoscopic myotomy (PREM) for Hirschsrung's disease. 7 J Digest Endosc 2019;10:142-149 Wagh and Draganov introduced per oral endoscopic tunneling for restoration of esophagus (POETRE) for complete esophageal strictures 8 and Li et al performed submucosal endoscopic septal division for Zenker's diverticulum. 9 However, the real game changer and true potential of TSE was explored by Inoue et al in 2019 when they performed pure NOTES (natural orifice transluminal endoscopic surgery) by entering the peritoneal cavity through the myotomy site of achalasia and performing fundoplication.…”

“…Although exciting, only 2 case reports are available. 7,34 The lack of enthusiasm may be due to the risk of injuring the external anal sphincter leading to incontinence.…”

Third-space endoscopy – can we see light at the end of the tunnel?

“…Endoscopic submucosal pyloromyotomy was conceptualized in porcine models by Kawai et al in 2012 [6], and this was followed by the first hu-man pyloromyotomy (G-POEM) for refractory gastroparesis, which was reported by Khashab et al in 2013 [7]. The same principle has also been reported for endoscopic submucosal septotomy for Zenker's diverticulum (STESD) [8] and for endoscopic myotomy of the spastic rectosigmoid aganglionic segment in Hirschsprung's disease (per-rectal endoscopic myotomy [PREM]) [9]. In addition, subepithelial lesions are being resected by submucosal tunnelling endoscopic resection (STER) [10].…”