Mowat–Wilson syndrome – case study

1 Student Study Group at the Department of Paediatrics, Preventive Cardiology and Immunology of Developmental Age, Medical University of Lodz, Łódź, Poland
2 Department of Paediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital – Research Institute, Łódź, Poland
3 Department of Paediatric Didactics, Medical University of Lodz, Łódź, Poland
Correspondence: Małgorzata Stańczyk, MD, PhD, Department of Paediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital – Research Institute, Rzgowska 281/289, 93-338 Łódź, Poland, tel.: +48 42 271 13 94, fax: +48 42 271 13 90, e-mail: mbstanczyk@gmail.com

Pediatr Med Rodz 2016, 12 (2), p. 201–208
DOI: 10.15557/PiMR.2016.0020
ABSTRACT

Mowat–Wilson syndrome is a rare genetic condition characterised by a number of congenital anomalies, including facial dysmorphia, heart and kidney anomalies, Hirschsprung’s disease, intellectual disability and abnormalities of reproductive organs. In the paper, we present a case of a girl who was admitted to the Department of Paediatrics, Immunology and Nephrology at the age of 3 months, with a suspicion of tubulointerstitial nephritis. The patient had facial dysmorphia, congenital malformations of the nervous system and Hirschsprung’s disease. During hospitalisation, congenital urinary anomalies (bilateral vesicoureteral reflux) and heart defects were diagnosed. On the basis of the clinical picture, the diagnostics was expanded to genetic tests for Mowat–Wilson syndrome, which revealed an 857_858delAG pathogenic mutation in one of the ZEB2 gene alleles (exon 7) – one of the rarer causes of Mowat–Wilson syndrome. At present, the girl is 13 months old. Her development is delayed. Currently, the girl is under multidisciplinary care and she is undergoing intensive rehabilitation. The knowledge of the syndrome’s clinical features allows a faster diagnosis to be made and multispecialty care to be provided to the child.

Keywords: Mowat–Wilson syndrome, Hirschsprung’s disease, mental retardation, congenital defects