Abstract

Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis. We performed endoscopic full-thickness resection (eFTR) using a full-thickness-resection device (FTRD) under moderate propofol sedation in four patients with suspected severe neuromuscular gut disorders including CIPO. The mean age of the four patients was 43y (range 19-56y). Technical and histological success providing large colonic full-thickness tissue samples of excellent quality was achieved in all four patients (success rate 100%). The mean procedure time was 12min (range 5-20min). The mean diameter of the resected specimen was 21mm (range 20-22mm). No adverse events connected to the procedure itself occurred. Histology ranged from aganglionosis such as Hirschsprung's disease (HD) to hypoganglionosis and eosinophilic leiomyositis combined with lymphocytic ganglionitis in a third patient. Histology was unspecific in one patient. EFTR allows safe and minimal invasive harvesting of ample full-thickness tissue samples for accurate histological analysis in patients with suspicion of neuromuscular gut disorders.

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