Published in
Springer (part of Springer Nature), Child's Nervous System, 12(29), p. 2151-2155
DOI: 10.1007/s00381-013-2283-5
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Mowat-Wilson syndrome: The first report of an association with central nervous system tumors
,
Valera Et,
Sabrine Teixeira Ferraz,
Ferraz St,
María Sol Brassesco ,
Antonio Carlos dos Santos,
Brassesco Ms,
Xiumei Zhen,
Yiping Shen,
dos Santos Ac,
Antonio Carlos dos Santos,
Luciano Neder,
Oliveira Rs,
Ricardo Santos Oliveira,
Scrideli Ca
and other authors.
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Abstract
Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child.