Abstract
In this study, we report the cases of five unrelated patients with Klinefelter's syndrome and seizures or EEG epileptiform abnomalities; the karyotype was 47,XXY in four, and 47,XXY/46,XX in one. They were aged 13–25 years and followed up both clinically and by means of EEG. Two of the patients had epilepsy, one had only one isolated generalized tonic-clonic seizure, one had febrile convulsions and one presented focal epileptiform EEG abnormalities without seizures. In two of the patients, it was possible to classify the epilepsy (childhood epilepsy with occipital paroxysms and cryptogenic or symptomatic generalized epilepsy). Although the electroclinical patterns appeared to be rather heterogeneous in our patients, it is possible to infer the relative good evolution of seizures in Klinefelter's syndrome.
Sommario
In questo studio sono riportati 5 pazienti con sindrome di Klinefelter e crisi epilettiche o anomalie parossistiche all'EEG. In 4 soggetti il cariotipo era 47,XXY mentre in uno esso era 47,XXY/46,XX. L'età dei pazienti era compresa tra 13 e 25 anni; tutti sono stati seguiti nel tempo da un punto di vista clinico ed EEGrafico. Due pazienti erano affetti da epilessia, uno aveva presentato una crisi generalizzata tonico-clonica isolata, uno aveva presentato convulsioni febbrili e uno mostrava solo anomalie parossistiche focali all'EEG senza aver mai apparentemente presentato crisi. In due pazienti è stato possibile classificare l'epilessia (epilessia dell'infanzia a parossismi occipitali ed epilessia generalizzata criptogenetica o sintomatica). Sebbene il pattern elettroclinico nei nostri pazienti sembri piuttosto eterogeneo, è possibile inferire una certa benignità del quadro epilettologico nella sindrome di Klinefelter.
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Elia, M., Musumeci, S.A., Ferri, R. et al. Seizures in Klinefelter's syndrome: A clinical and EEG study of five patients. Ital J Neuro Sci 16, 231–238 (1995). https://doi.org/10.1007/BF02282994
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DOI: https://doi.org/10.1007/BF02282994