Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients
Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients
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DOI：
10.1093/brain/awl133
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发表时间：
2006-07-01
期刊：
影响因子：
14.5
通讯作者：
Schulze-Bonhage, Andreas
中科院分区：
文献类型：
--
作者：
Fauser, Susanne;Huppertz, Hans-Juergen;Schulze-Bonhage, Andreas
局灶性皮质发育不良（FCDs）越来越多地被诊断为儿童和成人患者症状性局灶性癫痫的原因。然而，对这些患者癫痫的临床特征知之甚少。为了阐明癫痫的临床特点，回顾性研究了120例经组织学证实为FCD的儿童和成人耐药患者。分析总组癫痫发作年龄，并比较不同部位和不同组织学亚型FCD亚组间的差异。研究了热性惊厥在双重病理中的作用。重点分析癫痫发作符号学，分析癫痫发作类型及病程中癫痫发作符号学的变化。最后，研究了抗癫痫药物治疗的短暂性反应。在大多数患者中，癫痫开始于生命的前5年。然而，癫痫发作也可能发生在第二个或第三个十年，直到60岁。癫痫发作年龄在FCD的颞、颞外和多叶定位之间无显著差异。与有细胞结构异常（Palmini认为FCD 1b、2a和2b）的患者相比，无细胞结构异常的患者（轻度皮质发育畸形，Palmini认为FCD 1a）癫痫发作明显晚于有细胞结构异常的患者（P= 0.001）。在附加海马硬化（双重病理）患者中，热性癫痫发作的报告频率明显高于无双重病理的患者（P = 0.02）。此外，与无热性惊厥的双重病理患者相比，双重病理患者出现严重海马硬化（Wyler分级3-4）的频率显著高于无热性惊厥的双重病理患者（P = 0.03）。首次观察到的癫痫发作主要为强直性或全身性强直-阵挛性。发作符号学的变化似乎是年龄依赖性的，发生在10岁至14岁之间。约15.8%的患者在病程中出现癫痫持续状态。约17%的患者在初始治疗后（50%）或癫痫病程后期（50%）对抗癫痫药物治疗表现出短暂性反应（>= 1年无发作）。FCD患者是一个异质性的群体。在大约17%的患者中，不同的癫痫发病年龄和对抗癫痫药物的短暂性反应可能反映了潜在FCD的不同致痫动力学。双重病理可能与有和无热性惊厥患者的不同病理机制有关。
Focal cortical dysplasias (FCDs) are increasingly diagnosed as a cause of symptomatic focal epilepsy in paediatric and adult patients. However, little is known about the clinical characteristics of epilepsy in these patients. In order to elucidate the clinical characteristics of their epilepsy, 120 pharmacoresistant patients including children and adults with histologically proven FCD were studied retrospectively. Age at seizure onset was analysed in the total group and compared between subgroups with different localization and different histological subtypes of FCD. The role of febrile seizures with respect to dual pathology was investigated. Seizure semiology was analysed focusing on initial seizure type and change of seizure semiology during the course of disease. Finally, transient responsiveness to antiepileptic drug therapy was studied. In the majority of patients, epilepsy began in the first 5 years of life. However, onset of epilepsy could also occur in the second or third decade until the age of 60. Age at epilepsy onset was not significantly different between temporal, extratemporal and multilobar localization of FCD. Patients without cytoarchitectural abnormalities (mild malformations of cortical development, FCD 1a according to Palmini) had significantly later epilepsy onset (P= 0.001) compared with patients with cytoarchitectural abnormalities (FCD 1b, 2a and 2b according to Palmini). In patients with additional hippocampal sclerosis (dual pathology) febrile seizures were significantly more frequently reported (P = 0.02) than in patients without dual pathology. Moreover, patients with dual pathology and febrile seizures significantly more frequently presented with severe hippocampal sclerosis (Wyler Grade 3-4) as compared with patients with dual pathology in the absence of febrile seizures (P = 0.03). First observed seizures were mainly tonic or generalized tonic-clonic. A change of seizure semiology seemed to be age-dependent and occurred between the age of > 1 and 14 years. About 15.8% of the patients presented with status epilepticus during the course of disease. About 17% of the patients showed transient responsiveness (>= 1 year seizure freedom) to antiepileptic drug therapy either after initial therapy (50%) or later in the course of epilepsy (50%). Patients with FCD represent a heterogeneous group. Different age at epilepsy onset and transient responsiveness to antiepileptic drugs in similar to 17% of patients may reflect different dynamics in epileptogenicity of the underlying FCD. Dual pathology may be associated with different pathomechanisms in patients with and without febrile seizures.