Distal Rectal Skip-Segment Hirschsprung Disease and the Potential for False-Negative Diagnosis

作者：Coe Alexander; Avansino Jeffrey R; Kapur Raj P

来源：Pediatric and Developmental Pathology, 2016, 19(2): 123-131.

DOI：10.2350/15-08-1686-OA.1

• aganglionosis
• calretinin
• Hirschsprung disease
• skip area
• skip segment
• zonal

In skip-segment Hirschsprung disease (SS-HSCR), an aganglionic segment of bowel, which extends proximally from the distal rectum, is interrupted by a ganglionated "skip segment." Skip segments are usually located far proximal to the rectum where they do not interfere with initial diagnosis, although the possibility of distal SS-HSCR should be considered during interpretation of intraoperative biopsies or patients with atypical postoperative courses. We report 2 cases of SS-HSCR with skip areas in the distal rectum, 1 of which led to a false-negative diagnosis by suction rectal biopsy. These 2 cases of SS-HSCR, along with others in the literature, highlight the point that ganglionic skip segments can confuse clinicians and lead to inadequate bowel resection, diagnostic delay, or a false-negative diagnosis. The pathogenesis of SS-HSCR is discussed in light of recent discoveries regarding transmesenteric migration of vagal neural crest cells and the role of sacral neural crest cells in hindgut neurodevelopment.

• 出版日期2016-4