摘要
目的研究青春期前脆性Ｘ染色体综合征临床和ＥＥＧ表现特点。方法对３０例该综合征患儿的临床表现、脑电图及其与脆性Ｘ细胞表达率的关系进行研究。结果智力低下、语言障碍及行为异常十分常见，但特殊面容和巨睾出现率低。４６．７％的患儿有癫痫发作，且发作有无与脆性Ｘ表达率相关。ＥＥＧ有癫痫放电者９／２１，但仅１例局限于双颞区。结论特殊面容及巨睾不应作为青春期前脆性Ｘ染色体综合征患儿筛选和诊断的依据。癫痫的发生可能与脆性Ｘ位点有关。
Objective To study the clinical and EEG characteristics of fragile X syndrome in pre puberty.Method The clinical manifestations and EEG changes, as well as their correlations with cytogenetics were studied in 30 patients (23 males and 7 females, aged 2～16 years ) with fragile X syndrome. The EEGs (including 6 sleep EEGs) were performed in 21 of the 30 patients. Results Mental retardation was found in all the patients, while behavioral abnormalities and speech delay were seen quite frequently (86.7%). But only a few children had long jaws (20.0%), large ears (10.0%) and macro orchidism (10.0%). The afebrile epileptic seizures occurred in 26.7% of the patients. The seizure type was generalized in 7 and partial in 1. In most cases the onset ages of the seizures were at the ages of 3￣5 years, except one who began to have seizures at the age of 4 months. The frequencies of the seizures were usually low and remitted spontaneously or responded well to valproic acid (VPA). In only one patient the seizures were not controlled with phenytoin (PHT)+phenybarbital (PB). However, 6 (20.0%) other patients had 1 to 3 febrile seizures, which had not been reported before. In addition, the result showed a significant rank correlation between seizures (both febrile and afebrile) and the percentage of fragility in cytogenetic testing (χ 2=6.957, P <0.05). The EEG background activity was normal in 5 (23.8%) patients and slow in 16 (76.2%). The epileptic discharges were recorded in 9 patients (1 febrile, 6 afebrile and 2 non epileptic). The temporal lobe discharges were recorded in only one case with seizures. Conclusion The facial traits and macro orchidism could not serve as a clinical screening and diagnostic feature in pre puberty. Though the seizures had some benign characteristics, we failed to find definite clinical EEG signs similar to a special benign epileptic syndrome like BECCT. The high incidence of seizures and their close relationship with the percentage of fragility suggested that fragile X gene migh
出处
《中华神经科杂志》
CAS
CSCD
1997年第5期297-300,共4页
Chinese Journal of Neurology
关键词
脆性X染色体
脑电力图
X综合征
Fragile X Syndrome Epilepsy Electroencephalography
