良性家族性新生儿惊厥的临床特征

Clinical characteristics of benign familial neonatal convulsion

目的探讨良性家族性新生儿惊厥(BFNC)的临床特征及遗传学特点。方法对3个BFNC家系的遗传方式、临床表现、辅助检查及预后进行总结分析。结果3家系共20例患者 ,遗传方式均呈常染色体显性遗传 ;于出生后2～10d发病 ,表现为部分性或全身性惊厥发作 ,1例有发作后嗜睡 ;无论治疗与否 ,惊厥发作于18d～18个月完全消失 ,智能发育正常 ;1例发作后脑电图表现为弥漫性波幅降低 ,1例发作时可见癫波发放 ,2例发作间期正常 ;体格检查、血生化检查、神经影像学检查及染色体核型分析均正常 ;5例行抗癫治疗 ,均有较好疗效。结论BFNC为常染色体显性遗传性癫综合征 ,具有遗传异质性 ,临床特点为新生儿期出现的、可自行消失的、预后良好的惊厥发作 ,可有发作后嗜睡 ,血生化及神经影像学检查正常 ,发作间期脑电图正常 ,对抗癫药物反应较好。诊断主要依靠家族史及临床表现。

Objective To explore the clinical and genetic characteristics of benign familial neonatal convulsion(BFNC).Methods The inheritance,clinical features,laboratory examinations and prognosis were analyzed in20cases who came from three unrelated Chinese BFNC families.The results showed that a patˉtern of autosomal dominant inheritance was noticed in all three families.The seizures first appeared from2to10days after birth,and consisted of both partial and generalized seizures.Seizures resolved in18days to18months of age regardless of whether they were treated or not.All patients had normal intellectual deve_ lopment.Results The electroencephalographs(EEG)findings included:(1)One patient with a post_ictal EEG with diffuse low amplitude.(2)One patient with an ictal EEG of bilateral spike and slow wave,and(3)Two patient's interictal EEGs were normal.The physical examinations,serum biochemical determinations, neuroradiological examinations and karyotypes were normal in all subjects.Five of them used antiepileptic drugs with good control of seizures.Conclusions BFNC is inherited with the autosomal dominant manner but also with genetic heterogeneity.The seizures occur mainly in the neonatal period and can regress sponˉtaneously.The serum biochemical and neuroradiological examinations in all subjects were normal.The seizures can be well controlled by antiepileptic drugs and its prognosis seems excellent.The diagnosis of BFNC is mainly based on family history and clinical features.