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

Turk J Pediatr. 2013 Sep-Oct;55(5):549-51.

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 14
  • Epilepsy / genetics*
  • Female
  • Humans
  • Infant
  • Ring Chromosomes*

Supplementary concepts

  • Ring Chromosome 14 Syndrome