Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis
Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis
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DOI：
10.1111/j.1528-1157.2000.tb04608.x
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发表时间：
2000-10-01
期刊：
影响因子：
5.6
通讯作者：
Santavuori, P
中科院分区：
文献类型：
--
作者：
Åberg, LE;Bäckman, M;Santavuori, P
目的：探讨青少年神经性蜡样脂褐质病（JNCL）患者的癫痫特点，确定最适合该患者的抗癫痫药物（AED）治疗方案。方法：研究对象为60例JNCL患者；平均年龄16.5岁（范围5-33岁）。研究了癫痫的发病年龄、发作类型、首次使用AED对癫痫发作的影响、当前发作频率和AED治疗。AEDs的副作用也得到了澄清。结果：60例患者中有50例发生癫痫。患者首次癫痫发作的平均年龄为10.0岁（范围5-16岁），最常见的类型是全面性癫痫发作。第一次使用AED时，丙戊酸钠（VPA）和拉莫三嗪（LTG）似乎同样有效，80%的患者对这些AED有反应。在研究期间，癫痫发作频率中位数为每年4次（范围0-120次），72%的患者癫痫发作控制良好或满意（每年0-6次）。在不同的AED治疗组中，癫痫发作控制良好或满意的患者比例从25%到100%不等。LTG单药或与氯硝西泮（CZP）联用优于其他抗癫痫药或联用，但VPA似乎也有效。在25%的患者中观察到导致AED停药的不良反应，最常见的是服用苯巴比妥（PB）的患者。接受LTG治疗的患者没有因不良反应而停药。结论：应用现有的抗癫痫药物治疗JNCL型癫痫可获得较好的疗效。在芬兰的JNCL患者中，治疗是基于LTG，或者其次是VPA。在联合治疗中，CZP似乎是一种有价值的辅助AED。
Purpose: To survey the characteristics of epilepsy in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and determine the antiepileptic drug (AED) treatment most suitable for these patients.Methods: The study included 60 patients with JNCL; their mean age was 16.5 years (range 5-33). The age at onset of epilepsy, type of seizures, effect of the first AED on seizures, and the current seizure frequency and AED therapy were studied. The side effects of the AEDs were also clarified.Results: Fifty of the 60 patients had epilepsy. Patients' first epileptic seizure occurred at a mean age of 10.0 years (range 5-16), the most common type being generalized seizures. As the first AED tried, valproate (VPA) and lamotrigine (LTG) appeared equally effective, with 80% of the patients responding to these AEDs. During the study year, the median seizure frequency was four seizures a year (range 0-120), and 72% of the patients had good or satisfactory seizure control (0-6 seizures a year). In the different AED therapy groups, the proportion of patients with good or satisfactory seizure control ranged from 25% to 100%. LTG in monotherapy or in combination with clonazepam (CZP) was superior to other AEDs or combinations, but VPA also seemed effective. Adverse effects leading to the discontinuation of an AED were observed in 25% of the patients, most frequently in patients receiving phenobarbital (PB). No patient receiving LTG had to discontinue the drug due to adverse effects.Conclusion: Epilepsy in JNCL can usually be successfully treated with the current AEDs. In Finnish patients with JNCL, treatment is based on LTG, or, secondarily, VPA. In combination therapy, CZP seems a valuable add-on AED.