Clinical and EEG Characteristics of Epilepsy in Rett Syndrome / 대한간질학회지

ABSTRACT

PURPOSE: Rett syndrome (RS) is an X-linked dominant neurodevelopmental disease. The patients with RS have normal early development, however, experience gradual regression of speech and motor development. About 2/3 of the patients develop seizures and usually show characteristic EEG findings. This study was performed to investigate whether there is correlation between clinical staging and EEG features in RS. METHODS: Thirty-five patients diagnosed as having RS from 2003 to 2007 at Seoul National University Children's Hospital were retrospectively evaluated. Diagnosis of RS was made according to consensus diagnostic criteria in 2001. RESULTS: Epileptic seizures were present in 30 patients (85.7%). The seizure onset according to the clinical staging was as follows: 3 patients (10%) in stage I, 9 (30%) in stage II, 18 (60%) in stage III. Twenty-two patients had two or more seizure types. EEG patterns get worse deterioration of background activity and decrease epileptiform discharges by clinical stage evolution. Sixteen patients (53%) achieved seizure freedom with antiepileptic drugs at clinical stage III and IV. CONCLUSIONS: EEG features were neither diagnostic nor pathognomonic in epilepsy due to RS. However, EEG patterns and response to treatment changed according to the clinical staging. Therefore, AED therapy should be decided considering the clinical courses of RS.