8家系家族性Fahr病的影像诊断及临床分析

发布时间：2018-04-13 04:27

本文选题：家族性基底节钙化 + Fahr病　；参考：《临床放射学杂志》2017年12期

【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。
[Abstract]:Objective to investigate the imaging and clinical features of 8 families with familial Fahr disease.Methods the clinical data of 8 families with familial Fahr's disease were collected. The changes of CT and MRI, the clinical manifestation and the volume of basal ganglia calcification were analyzed, and the family characteristics and genetic rules were summarized.Calcification was found in 4 cases (30.8%) and 1 case (4.5%), bilateral cerebellar dentate nucleus and cerebellar cortex calcification in 8 cases (61.5%), bilateral thalamus calcification in 8 cases (61.5%) in symptomatic patients, calcification of bilateral semicircular center in 3 cases (23.1%).The shape of calcification foci in the brain is approximately bilateral symmetry, because of different calcification sites.The volume of globus pallidus and putamen calcified foci was 1.748 卤0.622 cm ~ 3 in patients with motor impairment, and 0.392 卤0.276 cm ~ (3) in patients with psychotic symptoms. There was significant difference between the two groups (t _ (2.518) P _ (0.028)).The volume of globus pallidus and putamen calcification was 0.59 卤0.38 cm 3 in asymptomatic patients. There was no significant difference between the two groups.The calcification area in the brain showed isometric, slightly shorter T1 signal intensity, equal signal intensity, a little short signal intensity and a little longer T2 signal intensity in MRI images. The abnormal signal intensity was smaller than that in CT images, and the signal characteristics were not specific.Conclusion the initial symptoms of 8 families are closely related to the size of calcified foci. Ct is an important method for the early detection of Fahr's disease.
【作者单位】：湖南省脑科医院放射科;湖南省脑科医院神经内科;
【基金】：湖南省卫生计生委资助项目(编号:B2015-106)
【分类号】：R743;R816.1

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