1 型神经纤维瘤病中的癫痫发作与颅内肿瘤有关，但与神经纤维瘤病亮影无关。
Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects.
机构信息
Department of Neurology, Chang-Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan.
出版信息
Seizure. 2011 Oct;20(8):606-11. doi: 10.1016/j.seizure.2011.04.016. Epub 2011 May 28.
OBJECTIVE
To investigate the relationship between intracranial lesions and epileptic seizures in neurofibromatosis type 1 (NF1) patients.
BACKGROUND
NF1 is one of the most common autosomal dominant neurocutaneous disorders, and epilepsy is more prevalent in NF1 patients than in the general population. Epileptic seizures were found to be related to various types of intracranial lesions in NF1 patients.
METHODS
The clinical characteristics of NF1 (1986-2006 in Chung-Gung Memorial Hospital), diagnosed on the basis of the criteria of the National Institutes of Health Consensus Conference (1988), were reviewed by 2 neurologists. We diagnosed epileptic seizures of NF1 patients on the basis of clinical appearances and a history of antiepileptic drugs. Magnetic resonance images were also evaluated by 2 neuroradiologists to confirm the locations of brain tumors or neurofibromatosis bright objects (NBOs). The locations of NBOs were classified into 4 categories: cortex and hippocampus, subcortical white matter, basal ganglia, and infratentorial area. The association between the location of the lesions and the occurrence of seizure in NF1 patients was analyzed statistically.
RESULTS
The medical records of 630 NF1 patients were reviewed. In this cohort, 37 (5.87%) NF1 patients had epileptic seizures. The patients include 22 males (59.5%) and 15 females (40.5%). The mean seizure onset age was 14.8 years (2 months to 72 years). The most common seizure pattern was partial onset seizures, 3 simple partial seizures, and 14 complex partial seizures. Other seizure types found include 15 primary generalized seizures (2 absence seizures and 13 generalized tonic-clonic seizures), 2 infantile spasms, and 3 unclassified. A total of 172 (23 with epilepsy and 149 without epilepsy) NF1 patients underwent MRI examinations. NBOs were identified in 16 (69.6%) epilepsy patients and in 108 (72.5%) patients without epilepsy. The location or the number of these intracranial lesions does not show significant correlation with the occurrence of epilepsy in our cohort. Among 11 NF1 patients with intracranial tumors, 4 patients had seizures (36.36%), vs. 19 out of 161 NF1 patients (11.80%) without tumors.
CONCLUSION
The occurrence of epileptic seizures in NF1 patients is related to intracranial tumors but not to NBOs.
目的
探讨神经纤维瘤病 1 型（NF1）患者颅内病变与癫痫发作的关系。
背景
NF1 是最常见的常染色体显性神经皮肤疾病之一，NF1 患者的癫痫发病率高于普通人群。研究发现 NF1 患者的癫痫发作与各种类型的颅内病变有关。
方法
由 2 位神经科医生对 1986 年至 2006 年在中坜荣民总医院就诊的 NF1 患者（依据 1988 年美国国立卫生研究院共识会议的标准诊断）的临床特征进行回顾性分析。我们根据临床表现和抗癫痫药物治疗史诊断 NF1 患者的癫痫发作。另外，还由 2 位神经放射科医生对磁共振成像进行评估，以确定脑肿瘤或神经纤维瘤病亮区（NBO）的位置。将 NBO 的位置分为 4 类：皮质和海马、皮质下白质、基底节和小脑幕下区。对 NF1 患者病变部位与癫痫发作发生的关系进行统计学分析。
结果
对 630 例 NF1 患者的病历进行了回顾性分析。在该队列中，有 37 例（5.87%）NF1 患者出现癫痫发作。患者包括 22 例男性（59.5%）和 15 例女性（40.5%）。平均发病年龄为 14.8 岁（2 个月至 72 岁）。最常见的发作类型为部分性发作，包括 3 例单纯部分性发作和 14 例复杂部分性发作。其他发作类型包括 15 例原发性全面性发作（2 例失神发作和 13 例全面强直阵挛发作）、2 例婴儿痉挛症和 3 例未分类发作。共有 172 例（23 例伴癫痫发作和 149 例无癫痫发作）NF1 患者接受了 MRI 检查。在伴癫痫发作的 16 例患者和无癫痫发作的 108 例患者中，均发现了 NBO。颅内病变的位置或数量与本队列中癫痫的发生无显著相关性。在 11 例颅内肿瘤患者中，有 4 例（36.36%）发生癫痫发作，而在 161 例无肿瘤的 NF1 患者中，有 19 例（11.80%）发生癫痫发作。
结论
NF1 患者癫痫发作的发生与颅内肿瘤有关，而与 NBO 无关。
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