Watanabe Shun, Matsudera Shotaro, Yamaguchi Takeshi, Tani Yukiko, Ogino Kei, Nakajima Masanobu, Yamaguchi Satoru, Sasaki Kinro, Suzumura Hiroshi, Tsuchioka Takashi
First Department of Surgery.
Department of Pediatrics, Dokkyo Medical University, Japan.
Pediatr Rep. 2018 May 24;10(2):7500. doi: 10.4081/pr.2018.7500.
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.
瓦登伯革氏综合征（WS）具有由神经嵴细胞胚胎异常引起的特征性临床特征。WS患者有时会出现功能性肠梗阻。当为先天性巨结肠症（HD）时，WS被诊断为4型WS。我们报告一例在乙状结肠和直肠中没有肌间神经节细胞的WS病例。将该病例诊断为1型还是4型WS存在争议。此外，这是第三例因肌间神经丛异常导致蠕动功能衰竭的报告。在所有三例中，嗜酸性粒细胞都聚集在过渡区的肌层。在胚胎期，肠神经节细胞依次从近端向远端迁移至肌层，随后通过环行肌迁移至黏膜下层。因此，我们推测在这三例中，已经迁移的肌间神经节细胞被嗜酸性粒细胞介导的机制清除。我们相信本报告可能有助于阐明某些类型HD的发病机制。
