Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13
Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13
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DOI：
10.1001/archneur.63.1.122
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发表时间：
2006-01-01
影响因子：
--
通讯作者：
Marques-Dias, MJ
中科院分区：
文献类型：
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作者：
Valente, KD;Koiffmann, CP;Marques-Dias, MJ
背景：Angelman综合征(AS)是一种神经遗传性疾病，以严重的智力低下、言语障碍、刻板印象的干性运动和特殊的行为特征为特征，性格开朗，经常爆发笑声。目的：研究由缺失确定的AS患者的癫痫发作和治疗反应。设计：父母和照顾者访谈和病历回顾。地点：圣保罗大学癫痫中心。患者：19例由15q11-13号染色体缺失确定的AS患者。主要观察指标：癫痫严重程度、癫痫演变和抗癫痫药物治疗的反应。结果：本组患者全部为全身性癫痫，10例(53%)还伴有部分性癫痫。发作类型以不典型失神、肌阵挛和强直-阵挛发作为主。平均发病年龄1岁1个月。发烧加重癫痫10例(53%)，癫痫持续状态16例(84%)。18例(95%)患者既往或现在有日常发作史，其中14例(%)有致残性癫痫发作。13例(53%)出现多种发作类型。报告难治性癫痫病史16例(84%)。父母报告的改善，特征是癫痫发作频率或癫痫控制的减少，平均年龄为5.3岁。因此，这些患者中的大多数都有一段时间的难治性癫痫；然而，改善发生在儿童后期和青春期。丙戊酸单独使用或与苯巴比妥或氯硝西潘联合治疗效果最好。卡马西平、奥卡西平和长春花碱可加重癫痫发作。结论：缺失强直性脊柱炎患者癫痫起病早，癫痫发作类型、严重程度及对抗癫痫药物治疗的反应有定型的电临床特征。AS的另一个特征是年龄相关的改善，即使是在难治性病例中，在儿童后期和青春期。这些特征并不是这种综合征所特有的，但在适当的临床背景下，可以预测诊断。我们认为，AS应该被认为是发育迟缓婴儿严重的、全身性的、隐源性癫痫的鉴别诊断；然而，每个遗传组的适当的电临床描述是强制性的。
Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter. Most patients with AS present with epilepsy and suggestive electroencephalographic patterns, which may be used as diagnostic criteria.Objective: To study epilepsy and response to treatment in a series of patients with AS determined by deletion.Design: Parent and caregiver interview and medical record review.Setting: Epilepsy Center at the University of Sao Paulo.Patients: Nineteen patients with AS determined by deletion of chromosome 15q11-13.Main Outcome Measures: Epilepsy severity, epilepsy evolution, and response to antiepileptic drug treatment.Results: All patients with AS in this group had generalized epilepsy, and 10 (53%) also had partial epilepsy. Main seizure types were atypical absences and myoclonic and tonic-clonic seizures. Mean age at onset 1 year 1 month. Epilepsy aggravated by fever in 10 patients (53%) and status epilepticus in 16 (84%). Eighteen patients (95%) had previous or current history of daily seizures, of which 14 (64%) had disabling seizures. Multiple seizure types were observed in 13 patients (53%). History of refractory epilepsy was reported in 16 patients (84%). Parents reported improvement, characterized by decrease in seizure frequency or seizure control, at the mean age of 5.3 years. Therefore, most of these patients had a period of refractory epilepsy; however, improvement occurred during late childhood and puberty. The best therapeutic response was obtained with valproic acid alone or in association with phenobarbital or clonazepam. Epilepsy was aggravated by carbamazepine, oxcarbazepine, and vigabatrin.Conclusions: Patients with AS with deletion have epilepsy with early onset and stereotyped electroclinical profile regarding seizure type, severity, and response to antiepileptic drug treatment. Another feature of AS is the age-related improvement, even in refractory cases, during late childhood and puberty. These characteristics are not specific to this syndrome but, when inserted in the proper clinical context, may anticipate diagnosis. We believe that AS should be considered a differential diagnosis in developmentally delayed infants with severe, generalized, cryptogenic epilepsy; however, a proper electroclinical delineation of each genetic group is mandatory.