Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes
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ORIGINAL ARTICLE
Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes Claire Dagorno1 · Luca Pio1,2 · Yline Capri3 · Liza Ali1 · Irina Giurgea9 · Livia Qoshe8 · Guillaume Morcrette4 · Florence Julien‑Marsollier5,6 · Julie Sommet7 · Maryline Chomton7 · Dominique Berrebi2,4 · Arnaud Bonnard1,2 Accepted: 16 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Aim of the study Mowat Wilson syndrome (MWS) is a complex genetic disorder due to mutation or deletion of the ZEB2 gene (ZFHX1B), including multiple clinical features. Hirschsprung disease is associated with this syndrome with a prevalence between 43 and 57%. The aim of this study was to demonstrate the severe outcomes and the high complication rates in children with MWS, focusing on their complicated follow-up. Methods A retrospective comparative study was conducted on patients referred to Robert-Debré Children’s Hospital for MWS from 2003 to 2018. Multidisciplinary follow-up was carried out by surgeons, geneticists, gastroenterologists, and neurologists. Data regarding patient characteristics, surgical management, postoperative complications, and functional outcomes were collected. Results Over this period of 15 years, 23 patients were diagnosed with MWS. Hirschsprung disease was associated with 10 of them (43%). Of these cases, two patients had recto-sigmoïd aganglionosis (20%), three had aganglionic segment extension to the left colic angle (30%), two to the right colic angle (20%), and three to the whole colon (30%). The median follow-up was 8.5 years (2 months–15 years). All patients had seizures and intellectual disability. Six children (60%) presented with cardiac defects. At the last follow-up, three patients still had a stoma diversion and 7 (70%) were fed orally. One patient died during the first months. Eight (80%) of these children required a second surgery due to complications. At the last follow-up, three patients reported episodes of abdominal bloating (42%), one recurrent treated constipation (14.3%), and one soiling (14.3%). Genetic analysis identified three patients with heterozygous deletions, three with codon mutations, and three with frameshift mutations. Conclusions MWS associated with Hirschsprung disease has a high rate of immediate surgical complications but some patients may achieve bowel function comparable with non-syndromic HD patients. A multidisciplinary follow-up is required for these patients. Level of evidence Retrospective observational single cohort study, Level 3.
* Luca Pio [email protected] 1
Department of Pediatric Surgery and Urology, Robert Debré Children University Hospital, APHP, 48 boulevard Sérurier, 75019 Paris, France
2
Paris University, Paris, France
3
Department of Genetics, Robert-Debré Children University Hospital, APHP, Paris, France
4
Department of Pediatric Pathology, Robert-Debré Children University Hospital, APHP, Paris, France
5
Department of Pediatric Anesthesiology, Intensive care and Pain Management, Robe
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