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Pediatric Reports
Volume 10
Issue 2
10.4081/pr.2018.7500
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Case Report

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

by
Shun Watanabe
1,*,
Shotaro Matsudera
1,
Takeshi Yamaguchi
1,
Yukiko Tani
1,
Kei Ogino
1,
Masanobu Nakajima
1,
Satoru Yamaguchi
1,
Kinro Sasaki
1,
Hiroshi Suzumura
2 and
Takashi Tsuchioka
1
1
First Department of Surgery, Japan
2
Department of Pediatrics, Dokkyo Medical University, Japan
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2018, 10(2), 7500; https://doi.org/10.4081/pr.2018.7500
Submission received: 17 November 2017 / Revised: 13 March 2018 / Accepted: 21 March 2018 / Published: 24 May 2018

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.
Keywords: Waardenburg syndrome; Hirschsprung disease; Eosinophilic ganglionitis; Pathology Waardenburg syndrome; Hirschsprung disease; Eosinophilic ganglionitis; Pathology

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MDPI and ACS Style

Watanabe, S.; Matsudera, S.; Yamaguchi, T.; Tani, Y.; Ogino, K.; Nakajima, M.; Yamaguchi, S.; Sasaki, K.; Suzumura, H.; Tsuchioka, T. Waardenburg Syndrome with Isolated Deficiency of Myenteric Ganglion Cells at the Sigmoid Colon and Rectum. Pediatr. Rep. 2018, 10, 7500. https://doi.org/10.4081/pr.2018.7500

AMA Style

Watanabe S, Matsudera S, Yamaguchi T, Tani Y, Ogino K, Nakajima M, Yamaguchi S, Sasaki K, Suzumura H, Tsuchioka T. Waardenburg Syndrome with Isolated Deficiency of Myenteric Ganglion Cells at the Sigmoid Colon and Rectum. Pediatric Reports. 2018; 10(2):7500. https://doi.org/10.4081/pr.2018.7500

Chicago/Turabian Style

Watanabe, Shun, Shotaro Matsudera, Takeshi Yamaguchi, Yukiko Tani, Kei Ogino, Masanobu Nakajima, Satoru Yamaguchi, Kinro Sasaki, Hiroshi Suzumura, and Takashi Tsuchioka. 2018. "Waardenburg Syndrome with Isolated Deficiency of Myenteric Ganglion Cells at the Sigmoid Colon and Rectum" Pediatric Reports 10, no. 2: 7500. https://doi.org/10.4081/pr.2018.7500

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