Wilson病的脑部MRI表现及MRS变化

MRI and MRS Features of Wilson Disease

目的探讨肝豆状核变性(hepatolenticular degeneration,HLD)的中枢神经系统影像学表现。资料与方法搜集近年来经临床确诊的16例Wilson病患者的脑部影像学资料,回顾分析其中枢神经系统的影像学表现。另选取16名正常人(对照组)行磁共振波谱(MRS)成像作对照。结果 16例中,10例表现为明显的双侧基底节区及丘脑对称性分布的长T2、长T1异常信号;9例累及中脑及脑桥,可见长T2异常信号,其中3例呈现典型的"大熊猫脸征"及"小熊猫脸征";2例可见双侧小脑齿状核异常信号;1例表现为双侧基底节对称性短T2周围环绕长T2信号;2例表现为双侧基底节区及中脑对称性短T1信号;4例表现为侧脑室周围对称性长T2信号;2例脑萎缩较为明显;MRS显示6例兴趣区氮-乙酰天门冬氨酸(NAA)峰减低,8例乳酸(Cho)及肌酸(Cr)峰增高,5例肌醇(mI)峰增高;16例基底节区、丘脑及中脑兴趣区的NAA/Cr较对照组有所减低,mI/Cr有所增高,而Cho/Cr无明显差异。结论 Wilson病脑部的影像学表现具有较明显的特征性,MRI及MRS对于早期发现Wilson病具有重要价值。

Objective To analyze the MRI and MRS features of hepatolenticular degeneration（HLD）.Materials and Methods MRI appearances of 16 cases of wilson disease proven by clinic were collected and studied retrospectively.Results Conventioal MRI revealed symmetric bilateral hyperintensity in basal ganglia and thalami on T1 and T2 images in 10 cases.Nine cases showed lesions involed dorsal two-thirds of the midbrain and pons with hyperintensity on T2WI,three of them appeared the characteristic ＂panda face sign＂ and ＂cub face sign＂.Two cases showed symmetric hyperintensity in cerebellar dentate nuclei on T2 images.One patients showed very low signal intensity in the globus pallidus surrounded by high signal intensity on T2 images.Bilateral symmetric hyperintensity in basal ganglia and midbrain on T1 images appeared in 2 cases.High signal intensity zones along the walls of the lateral ventricles showed in 4 cases.Two patients showed obvious brain atrophy.Magnetic resonance spectroscopy revealed decreased NAA in 6 cases,and increased Cho and Cr in 8 and increased mI in 5 patients respectively.All cases showed higher ratio of mI/Cr and lower ratio of NAA/Cr in both the pallidum and the thalami compared to control subjects,and no difference of Cho/Cr between lesion and normal tissue.Conclusion Wilson disease has characteristic MR and MRS features,which are very important for early detection and diagnosis.