48,XXYY syndrome revealed by epileptic seizures

Abstract

  48,XXYY aneuploidy is a rare sex chromosome variation, and 15% of the affected individuals present with seizures. This study included a 14-year-old boy with 48,XXYY karyotype revealed by seizures. The child initially developed a generalized seizure during sleep at the age of 3. The seizures were well managed with the administration of sodium valproate until the age of 12 when the generalized tonic-clonic seizure occurred. His electroencephalogram revealed frequent absence seizures and continuous spikes and waves during sleep. A 48,XXYY karyotype was identified using G-banding. The seizures were resolved with the administration of ethosuximide and sodium valproate.