Per rectal endoscopic myotomy for the treatment of adult Hirschsprung's disease: First human case (with video).
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.
Shivanand Desai Center for Digestive Disorders, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Amol
A
Bapaye
Department of Surgery, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Gajanan
G
Wagholikar
Department of Internal Medicine and Intensive Care, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Sameer
S
Jog
Department of Anesthesiology, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Aditi
A
Kothurkar
Department of Pathology, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Shefali
S
Purandare
Shivanand Desai Center for Digestive Disorders, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Nachiket
N
Dubale
Shivanand Desai Center for Digestive Disorders, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Rajendra
R
Pujari
Shivanand Desai Center for Digestive Disorders, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Mahesh
M
Mahadik
Shivanand Desai Center for Digestive Disorders, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Viral
V
Vyas
Smt. Kashibai Navale Medical College, Pune, India.
Jay
J
Bapaye
D000328:Adult; D012809:Colon, Sigmoid; D003248:Constipation; D006627:Hirschsprung Disease / Q000601:surgery*; D006801:Humans; D008297:Male; D000074433:Myotomy; D012007:Rectum; D055815:Young Adult
adult Hirschsprung's disease; per oral endoscopic myotomy; per rectal endoscopic myotomy; refractory constipation; third space endoscopy