Mowat-Wilson syndrome associated with Hirschsprung disease

Abstract

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by mutations in the zinc finger E-box binding homeobox 2 (ZEB2) gene. The syndrome is associated with Hirschsprung disease (HSCR). To investigate and report the clinical characteristics of MWS associated with HSCR and the treatment outcome of patients after radical operation for HSCR. The clinical features and gene mutation results of a patient with MWS and HSCR diagnosed by ZEB2 genetic analysis were literature review. The patient was female and presented abdominal distension, constipation, patent ductus arteriosus and a distinctive facial appearance, including ocular hypertelorism, prominent forehead and nasal tip, low-set ears, and uplifted earlobes. The patient was pathologically diagnosed with HSCR after undergoing laparoscopic Soave procedure at 9 months old. After surgical treatment, the defecation function returned to normal until the follow-up to 1 year and 10 months of age. A heterozygous mutation in the ZEB2 gene on chromosome 2 of the patient results in amino acid change c.244G > T (p.E82X), which is an unreported new mutation. Gene examination should be performed in children with HSCR combined with appearance changes. c.244G > T (p.E82X) may be a new disease-related locus.