一家族4例脑型肝豆状核变性的MRI诊断

目的 探讨肝豆状核变性的脑部MRI表现及其临床应用价值。方法 对一家族4例经临床化验证实的肝豆状核变性患者的脑部MRI表现进行分析。结果 患者脑部MRI主要改变为铜沉积所致的继发性双侧大致对称性的长T1长T2信号，增强无强化；发病部位依次为壳核4例，苍白球4例，丘脑3例，尾核头2例，齿状核1例，中脑1例，出现脑萎缩3例。结论 肝豆状核变性脑部改变以继发为主，MRI表现有一定的特征性，且与临床症状有一定的相关性。

MRI diagnosis of hepatoleuticular degeneration(Analysis of 4 cases in a family)

Objective To evaluate the brain MRI findings and its clinical oplication in hepatoleuticular degeneration. Methods The brain MRI finding of 4 cases in a family with hepatoleuticular degeneration confirmed clinically and experimentally were analysed.Results The main changes on brain MRI were bilateral symmetric secondary long T1, low signals and long T2 high signals,and were caused by dipostition of copper, and not enhanced after Gd-DTPA injection. Abnomal sigranl on brain MRI were seen in the putamen 4 cases, the globus pallidus 4 cases, the thalami 3 cases, the caudatenucleus 2 cases, the dentate nucleus 1 case; the midbrain 1 case, Diffuse or local brain atrophy 3 cases. Conclusion The changes on brain MRI of hepatoleuticular degeneration are mainly seconday, the brain MRI findings are correlated with clinical appearence.