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目的 :报道常染色体显性遗传性枕叶癫一家系 6例。方法 :对先证者进行详尽的临床、脑电图 (EEG)、录像脑电图 (Video -EEG)、头MRA观察。结果 :此家系祖孙三代 6例 ,男性女性均有发病 ,患者大多为 8～ 15岁起病 ,主要症状为发作性视幻觉、偏身麻木、头痛、呕吐。先证者EEG、Video -EEG、头颅MRA未见异常 ,家系中继发全面性强直阵挛发作患者EEG见枕颞区异常放电。结论 :该家系患者的临床表现、EEG均符合枕叶癫诊断 ,并排除了颅内占位性及血管性病变 ,该家系符合常染色体显性遗传规律。
Objective: To report the autosomal dominant occipital epilepsy family of 6 cases. Methods: The proband’s detailed clinical, electroencephalogram (EEG), video-EEG, head MRA observation. Results: The family of three generations of grandson and grandchild in 6 cases, the incidence of male and female, most patients onset of 8 to 15 years old, the main symptoms of paroxysmal visual hallucinations, numbness, headache, vomiting. Proximal EEG, Video-EEG, head MRA no abnormalities, family members with secondary comprehensive tonic clonic seizures in patients with EEG see abnormalities in the occipitomotor area. Conclusion: The clinical manifestations of the pedigrees, EEG are consistent with occipital lobe epilepsy diagnosis, and rule out the intracranial space occupying and vascular lesions, the family line with autosomal dominant inheritance.