肝豆状核变性的脑MRI与临床表现的相关分析

A study of the correlation of brain MR imaging with the clinical manifestations in hepatolenticular degeneration

目的探讨肝豆状核变性（ｈｅｐａｔｏｌｅｎｔｉｃｕｌａｒｄｅｇｅｎｅｒａｔｉｏｎ，ＨＬＤ）的脑ＭＲＩ表现特点与ＨＬＤ病程及神经体征间有无相关性，以及ＭＲＩ是否有助于ＨＬＤ的诊断。方法对１６例具有角膜Ｋ－Ｆ环阳性、锥体外系体征以及生化检验异常的ＨＬＤ患者进行了头部ＭＲＩＳＥ序列横轴面和矢状面扫描。结果异常信号多呈长Ｔ１长Ｔ２且分布广泛，对称出现，Ｔ２加权像低信号为本病较具特征性的改变，病变分布以豆状核、丘脑及脑干为显著，其分布与某些神经体征有很好的相关性，但与病程间无相关性。结论ＭＲＩ有助于ＨＬＤ的诊断。

Objective To evaluate the correlations among the MR imaging findings, the duration of the disease and the neurologic symptoms in hepatolenticular degeneration (HLD). Methods Sixteen patients with clinically as well as biochemically proven HLD underwent MR imaging. The patients were scanned with spinecho sequences. Results The results demonstrated that the abnormalities occurred symmetrically and extensively with predominant involvement of the lenticular nucleus, thalamus and the brain stems. The lesions exhibited low signal on T1 weighted images and high signals on T2weighted images in the majority of cases, but low signal on T2wieghted images were characteristic. There was good correlation between the sites of the brain lesion and some of the neurologic signs but no correlation of the brain lesion sites was found with the duration of the disease in our cases. Conclusion MR imaging was useful and helpful for the diagnosis of HLD.