The Turkish Journal of Pediatrics 2013 , Vol 55 , Num 5
Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report
Divisions of 1Pediatric Neurology and 2Pediatric Cardiology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey. E-mail: 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. Keywords : ring chromosome 14 syndrome, microcephaly, intractable epilepsy, developmental delay, children.
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