Ribacoba Montero R, Salas Puig J, Fernández Toral J, Fernández Martínez J M, Moral Rato M
Servicio de Neurología, Hospital Alvarez Buylla, Mieres.
Neurologia. 1995 Feb;10(2):70-5.
Fragile X syndrome is the most frequent cause of genetically related mental retardation. Epilepsy, occurring in 20 to 40% of cases, is considered a minor sign. Age- and sex-dependent EEG patterns analogous to partial idiopathic epilepsy with rolandic paroxysms have been described. We analyze the clinical and electrical manifestations in a series of 10 patients between 4 and 60 years old; 3 suffered partial seizures developing into generalized seizures and 2 asymptomatic patients had EEG signs. In the remaining patients only slow background activity was observed. The EEG pattern and epileptic seizures were seen only in males. We believe that the association of sharp waves preceding rolandic paroxysm is a differential trait suggesting a structural alteration.
脆性X综合征是遗传性智力迟钝最常见的病因。癫痫在20%至40%的病例中出现，被认为是一个次要症状。已描述了与具有中央颞区棘波的部分特发性癫痫类似的年龄和性别依赖性脑电图模式。我们分析了10例年龄在4至60岁之间患者的临床和电生理表现；3例患者出现部分性发作发展为全身性发作，2例无症状患者有脑电图异常体征。在其余患者中仅观察到背景活动减慢。脑电图模式和癫痫发作仅在男性中出现。我们认为，中央颞区棘波前尖波的关联是一种提示结构改变的鉴别特征。
