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, sa.5, ss.549-551, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 5
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.549-551
  • Çukurova Üniversitesi Adresli: Evet

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.