家族性特发性基底节钙化的CT表现

CT findings of familial idiopathic basal ganglia calcification

目的探讨家族性特发性基底节钙化的CT表现。方法发生自两个家系两代5例特发性基底节钙化患者均经头颅常规CT扫描。对所有患者的CT表现、发病状况及临床表现结合文献复习进行回顾性分析。结果在CT像上,家族性特发性基底节钙化表现为双侧苍白球、尾状核、丘脑及齿状核的对称性钙化,钙化程度和年龄成正相关,钙化的先后顺序依次为苍白球→尾状核→丘脑→齿状核。5例患者中,1例男性35岁患者头部外伤后主诉头痛头晕,CT显示双侧基底节对称性钙化影。其父(65岁)与其弟(31岁)有类似于先证者的CT表现,但无神经精神异常;另一家系1例25岁女性患者因家庭纠纷出现精神抑郁,CT显示双侧基底节对称性钙化。其姐(31岁)有类似于先证者的CT表现,但无神经精神异常。结论家族性特发性基底节钙化具有明显的CT特征,但它是否为遗传性疾病以及何种遗传方式,尚需进一步研究。

Objective To study the CT findings and pathogenetic characteristics of familial idiopathic basal ganglia calcification（IBGC）.Methods Five patients with IBGC arose from two generations of two families underwent cranial routine CT scans,CT findings,pathogenetic state and clinical manifestations in all patients were retrospectively analzed together with the review of literature.Results On CT images,IBGC lesions appeared as symmetric calcification of bilateral pallidum,caudatum,thalamus and dentatum.The calcified degrees were positively correlated with pathogenetic age.The anteroposterior order of IBGC was pallidum→caudatum→thalamus→dentatum.Among 5 patients,a 35 year-old man who underwent CT scan after a traffic accident presented symmetric calcification of bilateral ganglia associated with clinical symptoms of headache and dizziness,while his father（65 years） and his younger brother（31 years） had CT findings similar to him but had no any neuropsychic anomaly;a 25 year-old woman of other a family,who underwent CT scan after homely contrariety presented symmetric calcification of bilateral granglia associated with clinical symptoms of mental depression,while her elder sister（31 years） had CT findings similar to her but had no any neuropsychic anomaly.Conclusion IBGC has obvious CT feature but the further investigation shall be necessary to demonstrate whether or not IBGC is an inherited condition and what is inherited pattern.