Waardenburg Syndrome with Isolated Deficiency of Myenteric Ganglion Cells at the Sigmoid Colon and Rectum

Overview

Journal Pediatr Rep

Publisher MDPI

Specialty Pediatrics

Date 2018 Aug 3

PMID 30069293

Authors

Shun Watanabe

Shotaro Matsudera

Takeshi Yamaguchi

Yukiko Tani

Kei Ogino

Masanobu Nakajima

Satoru Yamaguchi

Kinro Sasaki

Hiroshi Suzumura

Takashi Tsuchioka

Affiliations

Soon will be listed here.

Abstract

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. We report a case of WS which did not have myenteric ganglion cells in the sigmoid colon and rectum. Whether to diagnosis this case as type 1 or 4 WS is controversial. Moreover, this is the third report which has peristalsis failure caused by abnormal myenteric plexus. In all three cases, the eosinophils had aggregated in the myenteric layer of the transition zone. During embryonic life, enteric ganglion cells migrate to the myenteric layer from the proximal to the distal side sequentially and, subsequently, to the submucosal layer through the circular muscle. Therefore, we hypothesize that myenteric ganglion cells that had already migrated were eliminated by an eosinophil-mediated mechanism in these three cases. We believe this report may be helpful to elucidate the pathogenesis of some types of HD.

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