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.
's disease is a congenital disorder characterized by the absence of intrinsic ganglion cells in the myenteric plexuses of the hindgut. The majority of patients present during infancy or childhood with constipation, intestinal obstruction, or megacolon [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]. This report describes the technique and outcome of PREM in a pediatric patient with Hirschsprung's disease. An 8-year-old boy had had refractory constipation since the neonatal period that was partially relieved by high-dose laxatives. Barium enema demonstrated a spastic rectum and dilated sigmoid colon, which were classical of Hirschsprung's disease (▶ Fig. 1). Colonoscopy showed a spastic non-distensible empty rectum and dilated sigmoid colon with stool residue. Deep mucosal biopsies demonstrated ganglion cells at 8 cm but these were absent distally (▶ Fig. 2). Manometry demonstrated absent rectoanal inhibitory reflex (RAIR). Given our previous experience, we obtained consent for PREM from the patient's parents. PREM was performed ▶ Fig. 1 Barium enema in an 8-year-old boy showing the characteristic signs of Hirschsprung's disease.
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