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

• Published in: Journal of pediatric surgery 2005-09, Vol.40 (9), p.1411-1419
• Main Authors: Ishihara, Naoko, Shimada, Atsuyoshi, Kato, Junji, Niimi, Norihiro, Tanaka, Shuichi, Miura, Kiyokuni, Suzuki, Tatsuya, Wakamatsu, Nobuaki, Nagaya, Masahiro
• Format: Article
• Language: English
• Subjects: Anthropometry; Child, Preschool; Colon, Sigmoid - innervation; Colon, Sigmoid - pathology; Female; Hirschsprung Disease - pathology; Homeodomain Proteins - genetics; Humans; Male; Mutation; Rectum - innervation; Rectum - pathology; Repressor Proteins - genetics; Zinc Finger E-box Binding Homeobox 2
• ISSN: 0022-3468; 1531-5037
• DOI: 10.1016/j.jpedsurg.2005.05.040

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. 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. 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. The variations in myenteric plexus pathologies in MWS appear to be caused by both variations in ZFHX1B abnormalities and epigenetic factors.