家族遗传性Fahr病一家系头颅CT表现及基因突变特点  

CT Findings and Gene Mutation Characteristics in a Family with Familial Hereditary Fahr’s Disease

作　　者：舒余虹 李文武 Shu Yuhong;Li Wenwu(Department of Neurology, People's Hospital of Lufeng County, Lufeng, Yunnan 651200, China;Department of Neurology,The Fourth Affiliated Hospital of Dali University, Chuxiong, Yunnan 675000, China)

机构地区：[1]禄丰县人民医院神经内科,云南禄丰651200 [2]大理大学第四附属医院神经内一科,云南楚雄675000

出　　处：《大理大学学报》2019年第8期58-62,共5页Journal of Dali University

摘　　要：目的:探讨家族遗传性Fahr病的头颅CT表现及基因突变特点。方法:回顾性分析一家系3代4例患者的头颅CT表现及基因突变特点,并结合文献对家族遗传性Fahr病进行探讨复习。结果:1例临床表现为行动迟缓伴记忆力下降、反应迟钝,其余3例均无临床症状;4例患者头颅CT检查均提示双侧小脑齿状核、基底节区以及侧脑室旁对称性钙化灶;4例患者检测血清甲状旁腺激素、甲状腺功能检查、钙、磷、镁均正常;3例患者基因检测SLC20A2基因9号外显子1604位点G突变为A。结论:依据家族史、头颅CT颅内钙化灶以及SLC20A2基因检测结果,可明确诊断家族遗传性Fahr病。Objective:To investigate the CT and gene mutation in familial hereditary Fahr's disease. Methods:Retrospective analysis was done on cranial CT clinical manifestations and gene mutation characteristic of 4 patients in 3 generations of one family, and combined with literature, family hereditary Fahr's disease was reviewed. Results:The clinical manifestations of 1 patient were slow action, decreased memory and delayed response, while the other 3 patients had no clinical symptoms. The cranial CT findings of all 4 patients showed symmetrical calcification in bilateral cerebellar dentate nucleus, basal ganglia and paraventricular regions;serum parathyroid hormone, thyroid function, calcium, phosphorus and magnesium were normal in 4 patients;in 3 patients the G mutation of the exon 1604 of SLC20A2 gene was A in gene detection. Conclusion:According to family history, cranial CT, intracranial calcification and SLC20A2 gene test results, familial hereditary Fahr's disease can be diagnosed clearly.

关 键 词：家族遗传性 FAHR病 基因突变 头颅CT 

分 类 号：R445.1[医药卫生—影像医学与核医学]