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: fincecik@yahoo.com
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.