家族性Fahr病2例并文献复习

目的 :认识少见的家族性 Fahr病 ,提高对其临床表现、遗传特点、CT表现的认识。方法 :采用回顾性研究方法 ,报告 1家系 2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、锥体束征及锥体外系症状为主要表现 ,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。钙化的轻重与临床表现出现的早晚成正相关。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 ,CT检查是明确诊断 Fahr病的重要依据。本病的临床症状与钙化部位、程度等因素有关 ,诊断本病仍主要依靠头颅 CT。

Two Cases Report of Family Fahr Disease and Literature Review

Objective:In order to improve the knowledge of Familt Fahr disease,the clinical symptom,inheritable features and CT imaging.Methods:With a retrospective study,The clinical sistuation and objective examination of two cases of Fahr disease in three generations of one family.Results:Fahr disease mainly show that intelligence disorder,speech-expressing impairment,ataxia,sign and extrapyramidal sign.the progress of this disease is slow.Cerebral CT shows that both sides of basic ganglia area were calcification image,however,Cerbral MRI shows normal sign.The level of calcification was positive correlation with time of clinical symptom.Conclusion:Fahr disease has significant family inheritance,but some cases have no clinical symptom and calcification only locat basic ganglia area which are easily missed.When the matablism of calcium and phosphorhus of blood plasma in normal,it is important to follow up the whole family.Cerebral CT is a major method to identify Fahr disease.The clinical symptom is related to the location and level of calcification.