Hirschsprung's disease and Mowat-Wilson syndrome: should a pull-through be performed?

BACKGROUND

Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells. Five percent of cases are associated with syndromic conditions, one of which is Mowat-Wilson syndrome (MWS), with an incidence rate of 50%. HSCR may be the first feature of this syndrome to be diagnosed. MWS is an autosomal dominant genetic disorder caused by a variant in the ZEB2 gene (ZFHX1B). OMIM #235730. It involves severe clinical manifestations such as ocular hypertelorism, intellectual disability, congenital heart defects, epilepsy, and HSCR. The association between MWS and HSCR is regarded as a serious condition with unpredictable post-operative outcomes, and many reported complications related to motility disorders are noted.

METHODS

We conducted a retrospective study and reviewed the medical records of patients with MWS treated at our center. We examined the relationship among HSCR, clinical features, molecular characteristics, surgical complications, and pre-operative and post-operative enterocolitis events.

RESULTS

The study included four patients with MWS. Three (75%) were found to be associated with HSCR. Rectal biopsy confirmed HSCR in all patients. Two patients underwent a transanal pull-through Swenson procedure, and both experienced surgical complications. Both cases encountered multiple episodes of enterocolitis, and one of them required a permanent stoma. The third patient has not undergone surgical correction but has responded well to medical treatment (laxatives).

CONCLUSIONS

The association between MWS and HSCR presents a severe condition with high morbidity. The outcome after the pull-through procedure is unpredictable. Further studies are necessary to gain a deeper understanding of this condition. We recommend evaluating these patients in a multidisciplinary consensus based on the existing literature and our findings. Those without recurrent enterocolitis or chronic motility disorders are suitable candidates for conservative management.