Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report


İNCECİK F. , HERGUNER M. , MERT G. , ERDEM S., ALTUNBAŞAK Ş.

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.5, pp.549-551, 2013 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 5
  • Publication Date: 2013
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.549-551

Abstract

Ring chromosome 14 syndrome is a rare genetic disorder. Typically, children with this syndrome have distinct facial features, development delay, microcephaly, seizures, ocular abnormalities, and recurrent respiratory infections. Epilepsy associated with ring chromosome 14 generally shows intractable seizures. We describe a six-month-old girl with ring chromosome 14 syndrome who presented with early-onset and drug-resistant seizures.