Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome

Naoko Ishihara, Atsuyoshi Shimada, Junji Kato, Norihiro Niimi, Shuichi Tanaka, Kiyokuni Miura, Tatsuya Suzuki, Nobuaki Wakamatsu, Masahiro Nagaya

研究成果: Article査読

16 被引用数 (Scopus)


Background/Purpose: Patients with zinc finger homeo box 1B (ZFHX1B) mutations or deletions develop multiple congenital anomalies including Hirschsprung disease, known as Mowat-Wilson syndrome (MWS). In this study, we investigated variations in the enteric neural plexus abnormalities in MWS using morphometry-based histopathologic analysis. Methods: Seven patients with MWS (3 with mutations in exon 8 of ZFHX1B and 4 with deletions) who had undergone modified Duhamel's operations for Hirschsprung disease were examined. Surgically resected rectosigmoid specimens were analyzed morphometrically. Results: The length of the aganglionic segment was longer than 3 cm in all the patients with deletions. In 3 patients with mutations, the aganglionic region was not detected in the surgically resected specimens; however, the parameters of the ganglions and plexus were significantly smaller than those of controls (cloaca and aproctia), indicative of a transitional zone. Variation in the severity of pathological changes among the 3 patients with mutations was also noted. Conclusions: The variations in myenteric plexus pathologies in MWS appear to be caused by both variations in ZFHX1B abnormalities and epigenetic factors.

ジャーナルJournal of Pediatric Surgery
出版ステータスPublished - 09-2005

All Science Journal Classification (ASJC) codes

  • 外科
  • 小児科学、周産期医学および子どもの健康


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