Abstract
A girl with myolonic absence epilepsy (MAE), confirmed with repetitive provocations of absences by hyperventilations (HV), was reported. She first exhibited absence seizures (AS) at age 3, and visited to our clinic at age 6. An AS was provoked by HV, but myoclonic jerk of the neck or the shoulders was not observed at that time. As generalized 3 Hz spike-waves were present on EEG, valproic acid (VPA) was initiated with a diagnosis of childhood absence epilepsy. However, AS was not decreased instead of high serum VPA concentration (99 μg/ml). At age 8, a Video-EEG during HV was evaluated. Although, rhythmical myoclonic jerks of the neck and the shoulders did not develop in the first AS, they developed after the second AS, consistent with MAE. AS ceased with high dose VPA (138 μg/ml). Following results are recommended in this study; to observe AS or Video-EEG with repeated AS provocations by HV is necessary in patients with intractable AS to confirm MAE.
