Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease.

Document Type

Article

Publication Date

5-29-2020

Publication Title

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Abstract

BACKGROUND: Mowat-Wilson syndrome (MWS) is a multiorgan system disorder caused by

METHOD: Rectal biopsies and rectosigmoidectomy specimens from MWS patients were identified by retrospective reviews of surgical pathology records. Routinely prepared glass slides were examined to determine whether any smooth muscle structural alteration was present. Clinical information was obtained by chart review.

RESULTS: Six MWS patients were identified. A supernumerary smooth muscle coat in the submucosa was present in 3 of them, including 2 of the 4 patients with HSCR.

CONCLUSION: The structural anomaly, termed submucosal supernumerary smooth muscle coat, is not a syndrome-specific pathological feature. However, it appears to be more common than expected in MWS and is consistent with contemporary models for the roles of ZEB2 and related cell signaling pathways in the patterning of intestinal musculature during embryonic development.

Keywords: Hirschsprung disease; Mowat–Wilson syndrome; ZEB2; pseudo-obstruction; smooth muscle; supernumerary muscle.

Department

Pathology & Laboratory Medicine

Department

Surgery

Department

Pediatrics

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