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1、中华神经科杂志1997年10月第30卷第5期·297·脆性X染色体综合征临床与脑电图的研究易咏红陆雪芬廖卫平陈争郑萱杨淑霞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
2、脆性X位点有关。关键词脆性X染色体综合征癫痫脑电描记术AclinicalandEEGstudyoffragileXsyndromeYiYonghong*,LuXuefen,LiaoWeiping,etal.*ResearchInstituteofNeuroscience,GuangzhouMedicalCollege,Guangzhou510260ObjectiveTostudytheclinicalandEEGcharacteristicsoffragileXsyndromeinpre-puberty.MethodT
3、heclinicalmanifestationsandEEGchanges,aswellastheircorrelationswithcytogeneticswerestudiedin30patients(23malesand7females,aged2～16years)withfragileXsyndrome.TheEEGs(including6sleepEEGs)wereperformedin21ofthe30patients.ResultsMentalretar-dationwasfoundinallthepat
4、ients,whilebehavioralabnormalitiesandspeechdelaywereseenquitefrequently(86.7%).Butonlyafewchildrenhadlongjaws(20.0%),largeears(10.0%)andmacro-orchidism(10.0%).Theafebrileepilepticseizuresoccurredin26.7%ofthepatients.Theseizuretypewasgeneralizedin7andpartialin1.I
5、nmostcasestheonsetagesoftheseizureswereattheagesof3～5years,exceptonewhobegantohaveseizuresattheageof4months.Thefrequen-ciesoftheseizureswereusuallylowandremittedspontaneouslyorrespondedwelltovalproicacid(VPA).Inonlyonepatienttheseizureswerenotcontrolledwithpheny
6、toin(PHT)+phenybarbital(PB).However,6(20.0%)otherpatientshad1to3febrileseizures,whichhadnotbeenreportedbefore.Inaddition,theresultshowedasignificantrankcorrelationbetweenseizures(bothfebrile2andafebrile)andthepercentageoffragilityincytogenetictesting(=6.957,P<0
7、.05).TheEEGbackgroundactivitywasnormalin5(23.8%)patientsandslowin16(76.2%).Theepilepticdis-chargeswererecordedin9patients(1febrile,6afebrileand2non-epileptic).Thetemporallobedis-chargeswererecordedinonlyonecasewithseizures.ConclusionThefacialtraitsandmacro-or-ch
8、idismcouldnotserveasaclinicalscreeninganddiagnosticfeatureinpre-puberty.Thoughtheseizureshadsomebenigncharacteristics,wefailedtofinddefiniteclinical-EEGsignssimilarto
