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

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 hist...

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Bibliographic Details
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
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Summary: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.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2005.05.040