EPILESSIA E CRISI EPILETTICHE NELLA SINDROME DEL CROMOSOMA X FRAGILE

Some chromosomal abnormality syndromes carry a higher risk for seizures than is found in the general population, but only very few show a particular electroclinical picture. Close attention to the association between chromosome changes and related seizure and EEG pattern may help to identify specific genes associated with seizure susceptibility. The fragile X syndrome is considered to be the second most frequent chromosomal abnormality causing mental retardation. It features in addition to mental retardation of variable degree, hyperkinetic behavior, a characteristic speech pattern, peculiar facies, hypotonia. The prevalence of epilepsy varies from 9.1% to 45% in the different series. We studied 88 fragile X syndrome patients (79M; 9F) aged 4 to 25 years (mean age 13y6m). Eleven patients (12.5%) had epileptic seizures or epilepsy, always well controlled on AEDs. Contrary to findings reported in literature, we did not find any peculiar seizure of EEG pattern so frequent to be considered as a marker of the syndrome.