Abstract：
OBJECTIVE: 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.
CONCLUSIONS: 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.
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.
CONCLUSIONS: 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.
摘要：
目标：三X综合征，是一种经常未诊断的染色体异常，发病率为1/1000女性。主要相关疾病是泌尿生殖道畸形，卵巢早衰或原发性闭经，肠胃问题,精神疾病和癫痫。迄今为止,三联X与特定的癫痫综合征无关。因此,这个临床系列的目的是分析癫痫发作的符号学，13例癫痫和三X综合征患者的脑电图特征和长期预后。
方法：我们回顾性评估了在意大利11个癫痫中心转诊的三X综合征患者的长期癫痫发作结局。进行了至少2年的密切电临床随访，并报告了结果。
结果：我们的病例系列证实，癫痫不是偶然发现，而是该综合征表型谱的一部分。癫痫发作符号学显示，62％的患者局灶性癫痫发作的患病率更高。在85％的患者中报告了局灶性癫痫活动的EEG发现。抗癫痫药物在我们所有的患者中都是成功的，他们在大多数情况下对单一疗法有反应。
结论：根据我们的病例系列，最成功的药物是VPA和LEV。在我们的病例系列中，癫痫的长期预后良好。我们的经验表明，所有三重X患者均可实现良好的癫痫发作控制，并且在69％的病例中，EEG正常化。
方法：我们回顾性评估了在意大利11个癫痫中心转诊的三X综合征患者的长期癫痫发作结局。进行了至少2年的密切电临床随访，并报告了结果。
结果：我们的病例系列证实，癫痫不是偶然发现，而是该综合征表型谱的一部分。癫痫发作符号学显示，62％的患者局灶性癫痫发作的患病率更高。在85％的患者中报告了局灶性癫痫活动的EEG发现。抗癫痫药物在我们所有的患者中都是成功的，他们在大多数情况下对单一疗法有反应。
结论：根据我们的病例系列，最成功的药物是VPA和LEV。在我们的病例系列中，癫痫的长期预后良好。我们的经验表明，所有三重X患者均可实现良好的癫痫发作控制，并且在69％的病例中，EEG正常化。
