Bapaye Amol, Wagholikar Gajanan, Jog Sameer, Kothurkar Aditi, Purandare Shefali, Dubale Nachiket, Pujari Rajendra, Mahadik Mahesh, Vyas Viral, Bapaye Jay
Shivanand Desai Center for Digestive Disorders, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Department of Surgery, Deenanath Mangeshkar Hospital and Research Center, Pune, India.
Dig Endosc. 2016 Sep;28(6):680-4. doi: 10.1111/den.12689. Epub 2016 Jul 29.
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.
先天性巨结肠（HD）是一种先天性疾病，其特征是后肠黏膜下和肌间神经丛中缺乏内在神经节细胞；并表现为便秘、肠梗阻和/或巨结肠。HD通常累及直肠乙状结肠区域（短段HD），不过也有该疾病较短和较长变异型的描述。标准治疗方法包括对短段HD进行拖出式手术，或对选定的超短段病例进行后路肛门直肠肌切开术。在过去几年中，第三间隙内镜技术得到了发展。经口内镜肌切开术和经口幽门肌切开术分别用于治疗贲门失弛缓症和难治性胃轻瘫。基于对痉挛性肠段进行肌肉/括约肌松解的相同理念，经直肠内镜肌切开术可被视为短段HD的一种治疗选择。一名24岁男性患者自童年起就患有难治性便秘，习惯使用高剂量泻药组合。通过钡剂灌肠、结肠镜深度抽吸黏膜活检和肛门直肠测压，确诊为成人短段HD。组织病理学证实距肛门缘15厘米处无神经节细胞症。按照第三间隙内镜技术的原则，成功实施了长度为20厘米的经直肠内镜肌切开术。在24周的随访中，患者报告便秘及相关症状明显缓解。乙状结肠镜检查、肛门直肠测压和钡剂灌肠证实直肠扩张性改善，直肠压力降低。本病例报告描述了经直肠内镜肌切开术成功治疗成人短段HD的首例人体经验。
