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目的 :了解罕见的家族性Fahr病 ,探讨其发病机制。方法 :采用回顾性研究方法 ,报告 1家系 3代中 2例Fahr病临床表现及客观检查资料。结果 :显示本病以智能障碍、言语困难、共济失调、锥体束征为主要表现 ,病程缓慢进展。头颅CT示两侧对称基底节区钙化 ,MRI示无异常信号。结论 :本病的临床症状与钙化部位、程度等因素有关 ,诊断本病仍主要依赖头颅CT
Objective: To understand the rare familial Fahr disease and to explore its pathogenesis. Methods: A retrospective study was conducted to report the clinical manifestations and objective examination of 2 Fahr disease cases in 3 generations of a pedigree. Results: This disease showed that the disease with intellectual disorders, speech difficulties, ataxia, pyramidal tract signs as the main performance, slow progression. Head CT showed bilateral symmetrical basal ganglia calcification, MRI showed no abnormal signal. Conclusion: The clinical symptoms and calcifications of the site, extent and other factors, the diagnosis of the disease is still mainly dependent on the head CT