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Mowat–Wilson syndrome – case study

Kamil Faltin1, Marta Kostrzewa1, Małgorzata Stańczyk2, Marcin Tkaczyk2,3

Affiliacja i adres do korespondencji
Pediatr Med Rodz 2016, 12 (2), p. 201–208
DOI: 10.15557/PiMR.2016.0020
Streszczenie

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.

Słowa kluczowe
Mowat–Wilson syndrome, Hirschsprung’s disease, mental retardation, congenital defects

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