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

Research output: Contribution to journalArticlepeer-review

17 Citations (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.

Original languageEnglish
Pages (from-to)1411-1419
Number of pages9
JournalJournal of Pediatric Surgery
Issue number9
Publication statusPublished - 09-2005
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Surgery
  • Pediatrics, Perinatology, and Child Health


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