Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series.

Luigi Ferraro, Alberto Verrotti, Pasquale Striano, Salvatore Savasta, Vincenzo Salpietro, Alessandro Orsini, Francesca Operto, Sara Matricardi, Giulia Iapadre, Piero Pavone, Giuseppe Di Cara, Paolo Prontera, Elisabetta Mencaroni, Giovanni Battista Dell'Isola, Pasquale Parisi, Marco Carotenuto, Paolo Bonanni

Journal: Seizure 2022;102():32-35

PMID: 36183453

Abstract

PURPOSE

Triple X syndrome, is an often undiagnosed chromosomal abnormality with an incidence of 1/1000 females. Main associated disorders are urogenital malformations, premature ovarian failure or primary amenorrhea, gastrointestinal problems, psychiatric disorders and epilepsy. To date, triple X is not related to a specific epileptic syndrome. Therefore, the purpose of this clinical series is to analyze seizure semiology, electroencephalogram features and the long-term outcome of 13 patients with epilepsy and triple X syndrome.

METHODS

We retrospectively evaluated the long-term seizure outcome in patients with triple X syndrome who had been referred to 11 Epilepsy Centers in Italy. A close electroclinical follow-up was made for at least 2 years and outcomes were reported.

RESULTS

Our case series confirms that epilepsy is not an occasional finding but part of the phenotypic spectrum of this syndrome. The seizure semiology shows an higher prevalence of focal seizures in 62% of patients. EEG findings of focal epileptic activity were reported in 85% of patients. Anti-seizure medications were successful in all our patients whom in most cases were responsive to monotherapy.

CONCLUSION

According to our case series most successful drugs were VPA and LEV. Long term prognosis of epilepsy in our case series was good. Our experience suggests that all triple X patients achieve good seizure control and in 69% of cases normalization of the EEG.

Copyright © 2022. Published by Elsevier Ltd.

Address: Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy. Electronic address: [email protected].; Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy.; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy.; Epilepsy Unit, IRCCS Eugenio Medea Scientific Institute, Conegliano, Italy.; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine, Luigi Vanvitelli University, Caserta, Italy.; Department of Pediatrics, University of Aquila, Italy.; Child Neurology and Psychiatry Unit, Ospedali Riuniti Ancona, "G. Salesi" Children's Hospital, Ancona, Italy.; Child Neuropsychiatry Unit, Department of Medicine, Surgery, and Dentistry, University of Salerno, Salerno, Italy.; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy.; Chair of Pediatrics, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Faculty of Medicine & Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Pediatric Unit, Hospital ASST of Crema, Crema, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.

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