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, cilt.55, ss.549-551, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 55 Konu: 5
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.549-551

Özet

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.