脑型肝豆状核变性临床特征与MRI分析(附12例报告)

目的:探讨肝豆状核变性的临床特点与头颅MRI特征,为早期诊断及治疗提供参考。方法:回顾性归纳分析12例肝豆状核变性患者的临床表现及神经影像学特点。结果:平均发病年龄23.5岁;以锥体外系症状为首发10例;性格改变1例;学习成绩下降1例,K-F环均为阳性;头颅MRI特征为对称性基底节区、丘脑、中脑及桥脑异常信号。结论:肝豆状核变性临床表现多样,血清铜蓝蛋白检测、角膜K-F环及头颅MRI检查对诊断本病有重要意义。

Clinical and MRI analysis of patients with hepatolenticular degeneration

Objective:To investigate the clinical data and brain MRI feature of 12 patients with hepatolenticular degeneration(HLD)as to offering evidences of early diagnosis and treatment.Methods:The clinical data and brain MRI feature of 12 patients diagnosed by the criteria of HLD were retrospectively analyzed.Results:The mean age at HLD onset was 23.5 years old.The first symptoms marked by extrapyramidal signs,by character changes and by academic achievement decline respectively are 10 cases,1 case and 1 case.Ceruloplasmin(CP)was below.Kayser-Fleischer ring was found in all the patients.MRI examination were found to have abnormal signal,symmetrically distributed in basal ganglia,thalamus,midbrain and pons.Conclusion:The clinical manifestations of HLD are variform.The measurement of CP,Kayser-Fleischer ring check and the MRI check have the important meaning to the diagnosis of HLD.