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Fahr病是指家族性特发性基底节钙化是一以基底节钙化为特征的遗传性疾病,临床少见。我们报告两家系及其长期随访资料,并复习国内有关文献,总结Fahr病的临床特征,以提高对Fahr病的认识。1对象和方法1.1对象两家系均为汉族。A家系先证者为2岁女孩,因强直--阵挛性癫痢发作1年零6个月就诊。院外服用鲁米那及丙戊酸钠治疗效果不佳。脑CT示双基底节局灶性钙化。先症者之妹(AⅢ2)生后3个月时出现惊厥发作,10个月时脑CT见双基底节片状钙化。对其家族成员Ⅰ1、Ⅰ2、Ⅱ1、Ⅱ2、Ⅱ3、Ⅱ5行脑CT检查,见Ⅰ1、Ⅱ1、Ⅱ3、Ⅱ5均双基底节对称性钙化。B家系先证者为26岁女性,因经常头痛、头晕4-5年就诊。脑CT见基底节、皮层下及小脑大片钙化,其父有头痛及头晕史10余年,脑CT见双基底节片状钙化。其母
Fahr disease is a familial idiopathic basal ganglia calcification is a genetic disease characterized by basal ganglia calcification, clinical rare. We report data on the two families and their long-term follow-up and review relevant literature in the country to summarize the clinical features of Fahr disease to raise awareness of Fahr disease. 1 objects and methods 1.1 object two families are Han. A family of probands for 2-year-old girl, because of tonic - clonic epilepsy attack 1 year and 6 months treatment. Out of hospital use of luminal sodium and valproate treatment ineffective. Brain CT showed double basal ganglia calcification. The first symptom of the sister (AⅢ2) 3 months after birth, seizures appear seizures, 10 months of brain CT see double basal ganglia calcification. For family members I1, I2, II1, II2, II3, II5 brain CT scan, see Ⅰ 1, Ⅱ 1, Ⅱ 3, Ⅱ 5 symmetrical bilateral basal ganglia calcification. B family of probands for the 26-year-old woman, due to frequent headaches, dizziness 4-5 years treatment. Brain CT see basal ganglia, subcortical and cerebellar large calcification, the father had headaches and dizziness for more than 10 years, brain CT see double basal ganglia calcification. Its mother