8家系家族性Fahr病的影像诊断及临床分析  

The Imaging Diagnosis and Clinical Analysis of Familial Basal Ganglia Calcification from 8 Families

作　　者：张伟[1] 黄远桃[2] 王娟[1] 

机构地区：[1]湖南省脑科医院放射科,长沙410007 [2]湖南省脑科医院神经内科,长沙410007

出　　处：《临床放射学杂志》2017年第12期1740-1744,共5页Journal of Clinical Radiology

基　　金：湖南省卫生计生委资助项目(编号:B2015-106)

摘　　要：目的探讨8家系家族性Fahr病家系患者的影像和临床特点。方法搜集8个家族性Fahr病家系患者的临床资料,分析患者的颅脑CT及MRI改变、临床表现与基底节钙化灶体积,总结家族特点与遗传规律。结果有症状患者13例和无症状患者22例中,CT检查分别发现双侧苍白球钙化13例(100%)、22例(100%),双侧尾状核钙化8例(53.8%)、6例(27.2%),双侧壳核钙化6例(46.1%)、2例(9%),双侧大脑灰白质交界区钙化4例(30.8%)、1例(4.5%),双侧小脑齿状核及小脑皮层钙化8例(61.5%)、1例(4.5%),有症状患者双侧丘脑钙化8例(61.5%),双侧半卵圆中心钙化3例(23.1%)。脑内钙化灶形态大致双侧对称,因钙化部位不同而形态不一。以运动受损为主患者苍白球和壳核钙化灶体积(1.748±0.622)cm3,以精神症状为主患者苍白球和壳核钙化灶体积(0.392±0.276)cm3,二者比较t=2.518,P=0.028,有显著性差异。无症状患者苍白球和壳核钙化灶体积(0.59±0.38)cm3,二者比较t=1.151,P=0.034,无显著性差异。脑内钙化区在MRI图像表现为等、稍短T1信号,等、稍短、稍长T2信号,异常信号较CT图像显示的钙化区范围缩小,信号特征无特异性。结论 8家系患者首发症状与钙化灶大小、部位密切相关,CT对钙化灶的显示有绝对优势,是Fahr病早期发现的重要方法。Objective To investigate the imaging features and clinical features of 8 families with familial basal ganglia calcification（ FBGC）. Methods The clinical data of 8 familial Fahr pedigrees were collected. The changes of brain CT and MRI,the clinical manifestations and the volume of calcification in basal ganglia were analyzed,and the family characteristics and genetic rules were summarized. Results Of 13 patients with symptoms and 22 patients without symptoms,CT scan show： bilateral globus pallidus calcification in 13 cases（ 100%） and 22 cases（ 100%）,bilateral caudate nucleus calcification in 8 cases（ 53. 8%） and 6 cases（ 27. 2%）,bilateral putamen calcification in 6 cases（ 46. 1%） and 2 cases（ 9%）,gray white matter junction calcification in 4 cases（ 30. 8%） and 1 case（ 4. 5%）,bilateral cerebellar dentate nucleus and cerebellar cortical calcifications（ 61. 5%） in 8 cases and 1 case（ 4. 5%）,symptomatic patients with bilateral thalamus calcification in 8 cases（ 61. 5%）,3 cases of bilateral Centrum ovale calcification（ 23. 1%）. The shape of calcification in the brain is mostly bilateral symmetry,and the shape is different because of the different parts of the calcification. In most patients with impaired movement the pallidum and putamen calcification volume was（ 1. 748 ＋ 0. 622） cm3; with the mental symptoms of patients with globus pallidus,the calcification and putamen volume（ 0. 392 ＋ 0. 276） cm3,t = 2. 518,P = 0. 028 between the two,there was significant difference. Asymptomatic patients with globus pallidus and putamen calcification volume was（ 0. 59 ＋ 0. 38） cm3,t = 1. 151,two P = 0. 034,no significant difference. The MRI images showed that the T1 images showed a slightly shorter and slightly longer T2 signal,and the abnormal signal was smaller than that of the calcified area of CT images. Conclusion The first symptom of 8 patients is closely related to the size and location of calcification,and CT has an absolute advantage in the display of

关 键 词：家族性基底节钙化 FAHR病 钙化 X线计算机 断层摄影术 磁共振成像 

分 类 号：R743[医药卫生—神经病学与精神病学]