Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: Report of two cases

نویسندگان

  • Halisson Bastos
  • Paula Fabiana Sobral da Silva
  • Marco Antônio Veloso de Albuquerque
  • Adriana Mattos
  • Rudimar Santos Riesgo
  • Lygia Ohlweiler
  • Maria Isabel Bragatti Winckler
  • José Augusto Bragatti
  • Rodrigo Dias Duarte
  • Denise Isabel Zandoná
چکیده

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.

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عنوان ژورنال:
  • Seizure

دوره 17  شماره 

صفحات  -

تاریخ انتشار 2008