Endoscopic full-thickness resection for diagnosis of Hirschsprung’s disease
03 July 2018 (eFirst)
Endoscopic full-thickness resection (EFTR) is beneficial for treating a variety of conditions of the lower gastrointestinal tract such as early cancers, polyps, and fistulas  . Whereas the role of EFTR in the therapy for these conditions has been proven to be effective and safe, there is a paucity of data about its potential utility as a diagnostic intervention in patients with gastrointestinal tract dysmotility disorders 
In this report, we present a 19-year-old woman with chronic constipation since childhood, which remained severe, despite the use of multiples laxatives, along with dietary and lifestyle changes. Apart from the severe, recalcitrant constipation, the patient had no significant past medical history. The family history, however, was positive for achalasia in her mother.
The patient underwent several diagnostic interventions. A colonoscopy was unrevealing, except for massive dilatation of the sigmoid and descending colon and stool retention despite aggressive bowel prep and intraprocedural bowel cleansing. Histology obtained using the biopsy-on-biopsy technique was unrevealing. Both anorectal manometry and barium enema were suggestive of Hirschsprung’s disease. To obtain a definitive diagnosis, a full-thickness tissue sample was required. Traditionally, surgery is mandatory to obtain such tissue. However, the advent of the EFTR device (Ovesco, Tübingen, Germany) allows for the retrieval of the entire wall of the gastrointestinal tract. The patient decided to accept the use of this method and consented to undergo FTR using endoscopic means ([Fig. 1]; [Video 1]). The sample obtained was 15-mm wide and included down to the deep submucosal and muscular layers. After performing special immunohistochemical stains (S-100, synaptophysin, calretinin, and neurofilament specific), a diagnosis of hypoganglional disease was reached ([Fig. 2])
Video 1 Endoscopic full-thickness resection using the Ovesco device including a step-by-step description of the technique, which involves marking of the lesion, grasping and retrieval of the target tissue within the cap then fixation, release of the over-the-scope clip (OTSC) with a hand-wheel, closure of the snare and electrical cutting of the target tissue, and finally inspection of the resection site.
As we can see in this case, diagnosis by EFTR appears to be a safe, fast, and feasible option to obtain enough tissue from the deeper layers of the rectum to diagnose Hirschsprung’s disease and other deep-seated disease processes, instead of the typical invasive surgical procedures. Therefore, the advent of the EFTR device has increased our ability to help patients obtain an earlier diagnosis of their chronic, underlying illness. This case adds to the literature on the diagnostic utility of EFTR.
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