家族性Fahr病两家系报告  

Clinical and CT features of Fahr disease: a report of 2 families

作　　者：杨素云[1] 黄启坤 

机构地区：[1]山东省单县中心医院CT室,274300 [2]山东省单县中心医院儿科,274300

出　　处：《中华放射学杂志》2003年第1期49-50,共2页Chinese Journal of Radiology

摘　　要：目的　通过颅脑CT表现及家族调查 ,提高对Fahr病临床表现、遗传特点、CT表现的认识。方法　 2个家族先证者颅脑CT检查发现脑内钙化后 ,经实验室血钙、磷生化指标检查 ,排除甲状旁腺功能低下 ,并对其家族 3代内共 14例进行了调查。所有患者及被调查者均行颅脑CT平扫 ,取10层 ,层厚 10mm ,层距 10mm。结果　CT表现脑内钙化呈多发对称性 ,钙化首先累及基底节 ,随病情轻重及进展 ,逐渐累及丘脑、皮层下、小脑齿状核。钙化的轻重与临床表现出现的早晚成正相关 ,成年后脑内钙化进展缓慢。结论　Fahr病有明显家族遗传性 ,为特发脑内钙化 ,轻者钙化局限于基底节 ,无临床症状 ,易被漏诊。在血钙、磷代谢无异常的情况下 ,家族随访至关重要 。Objective To explore the clinical manifestations, CT features, and inheritance pattern of Fahr disease. Methods Head CT was scanned and serum calcium and phosphorum were measured in 14 persons from 2 families, and the 2 families' history was investigated. Results The serum calcium and phosphorum were normal in the 14 persons. There were 8 cases of Fahr disease, and the head CT showed local or diffuse calcium deposition in bilateral basal ganglia, subcortex, and thalamus, respectively. The inheritance pattern of the 8 cases of Fahr disease in the two families showed holandric inheritance, The clinical symptom and sign included seizures, irritability, mental retardation or no abnormal findings. Conclusion Fahr disease is a hereditary disease characterized by idiopathy and calcium deposition in the central nervous system. The clinical feature is various and head CT is an important examination in the diagnosis of Fahr disease.

关 键 词：家族性FAHR病 遗传学 CT检查 临床 特发家族性脑血管亚铁钙沉着症 

分 类 号：R743[医药卫生—神经病学与精神病学]