title: Distal Rectal Skip-Segment Hirschsprung Disease and the Potential for False-Negative Diagnosis.
abstract: 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.
authors.affiliation: 1 University of Nevada School of Medicine, Reno, NV, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Coe
authors.affiliation: 2 Department of Surgery, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Avansino
authors.affiliation: 3 Department of Pathology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
authors.forename: Raj P
authors.initials: RP
authors.lastname: Kapur
mesh_terms: D015415:Biomarkers / Q000032:analysis; D001706:Biopsy; D064032:Calbindin 2 / Q000032:analysis; D002675:Child, Preschool; D005188:False Negative Reactions; D005724:Ganglia / Q000737:chemistry / Q000473:pathology*; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000294:innervation*; D008297:Male; D010641:Phenotype; D011237:Predictive Value of Tests; D012007:Rectum / Q000294:innervation*
chemical_list: D015415:Biomarkers; C576764:CALB2 protein, human; D064032:Calbindin 2
keywords: Hirschsprung disease; aganglionosis; calretinin; skip area; skip segment; zonal