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Hirschsprung’s disease in children with Mowat–Wilson syndrome

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Abstract

Background

Hirschsprung’s disease (HSCR) is cited as a classical component in the constellation of features found in children with Mowat–Wilson syndrome (MWS), which is caused by a mutation of the ZEB2 gene. The prevalence and phenotype of HSCR in those with MWS has yet to be determined. Similarly, it is not known if children with MWS who undergo a curative pull-through operation experience similar functional outcomes. We aimed to delineate the clinical features of those with MWS and HSCR and to determine if these patients experience unfavourable outcomes following pull-through surgery.

Methods

A systematic review of the literature using the key search term “Mowat Wilson” was performed using three online databases. Clinical data were collected on all patients with a diagnosis of MWS confirmed by ZEB2 analysis. Data regarding bowel function in children with biopsy-proven HSCR were recorded where available. Statistical analysis was performed using SPSS (v. 20.0).

Results

Fifty-two articles were reviewed in the final analysis, incorporating data on 256 patients with a diagnosis of MWS. HSCR was diagnosed in 111 patients (43.4 %). Males with HSCR had a slightly increased risk of genital tract anomalies (e.g. hypospadias) compared to those without HSCR (RR 1.79, p = 0.05). Data pertaining to disease phenotype and functional outcome were only available on 42 and 13 patients, respectively. Rectosigmoid aganglionosis was the most common sub-type of HSCR, being described 26 patients (66.7 %), albeit accounting for a lower proportion than would normally be expected in an HSCR population. Only two patients (15.4 %) were described as having normal bowel function at follow-up with the remainder having terminal stomas, or experiencing troublesome persistent bowel symptoms and recurrent enterocolitis.

Conclusion

Hirschsprung’s disease is present in approximately 45 % of patients diagnosed with MWS. Although there is a relative lack of data available on the clinical phenotype of HSCR in this group and their functional outcome following pull-through operation, our data suggest an increased prevalence of long-segment aganglionosis and an increased risk of clinically significant persistent bowel symptoms following pull-through surgery, in many cases necessitating terminal stoma formation.

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We wish to acknowledge the contribution of the staff of the Library and Information Service in Our Lady’s Children’s Hospital in retrieving all available articles for review.

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    David Coyle & Prem Puri

  2. Temple Street Children’s University Hospital, Dublin 1, Ireland

    David Coyle

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Coyle, D., Puri, P. Hirschsprung’s disease in children with Mowat–Wilson syndrome. Pediatr Surg Int 31, 711–717 (2015). https://doi.org/10.1007/s00383-015-3732-x

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