A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy

ABSTRACT

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.