• Childs Nerv Syst · Dec 2013

    Case Reports

    Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

    • Elvis Terci Valera, Sabrine Teixeira Ferraz, María Sol Brassesco, Xiumei Zhen, Yiping Shen, Antonio Carlos dos Santos, Luciano Neder, Ricardo Santos Oliveira, Carlos Alberto Scrideli, and Luiz Gonzaga Tone.
    • Division of Pediatric Oncology, Department of Pediatrics; Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil, elvisvalera@hotmail.com.
    • Childs Nerv Syst. 2013 Dec 1; 29 (12): 2151-5.

    AbstractMowat-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.

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