摘要：目的 探讨3.0T MR肝豆状核变性(HLD)的颅脑MRI表现与及其临床意义.方法 对临床和实验室检查证实的23例肝豆状核变性患者行颅脑MRI平扫,扫描序列包括T1FLAIR、T2WI、T2FLAIR、DWI.分析颅脑异常MRI表现部位及临床体征,评估其临床相关性.结果 23例颅脑MRI均有异常发现,病灶呈稍长或长T1、稍长或长T2信号,FLAIR高信号,部分病灶呈低信号,DWI进展期病灶呈高信号.脑MRI异常信号发病部位依次为豆状核(21/23)、丘脑(19/23)、中脑(18/23)、内囊后肢(14/23)、桥脑(13/23,其中桥脑背侧、腹侧)、尾状核头(11/23)、齿状核(8/23)、小脑中脚(5/23)、额叶(5/23)、胼胝体压部(4 /23)、枕叶(1 /23),脑萎缩14例,且基底节、丘脑、中脑及齿状核多对称分布,形如"八字"或"展翅蝴蝶"样,MR病变部位与临床症状有一定相关性.结论 HLD颅脑MRI最具有特征性征象为双侧基底节、丘脑等对称性的异常信号,可广泛累及其他部位,多伴脑萎缩,而DWI可以反映进展期病灶情况,且受累部位与临床症状有一定相关性,从而指导临床诊治.%Objective To explore the MRI features of hepatolenticular degeneration (HLD), and to study the correlations between the MRI features and clinical data, such as the neurologic symptoms in HLD.Methods 23 patients with HLD confirmed by clinical and experiment results performed plain MRI scanning.The MRI features of HLD, the neurologic symptoms and the correlations between them were analyzed.Results 23 patients all showed abnormal signal on MRI with midly lower or lower T1 signal, mildly higher or higher T2 signal, and high signal on FLAIR.The signal on DWI was high in progressed HLD.The lesions involved the nucleus lentiformis (21 /23), the thalami (19 /23) ,the mesencephalon (18 /23), pars occipitalis capsulae internae (14/23), the pons (13 /23), the caput nuclei caudati (11 /23), the dentate nucleus (8 /23), the pedunculuscerebellarismedius (5 /23), the lobus frontalis (5 /23), the splenium of corpus callosum (4 /23), the lobus occipitalis (1 /23), brain atrophy (14 /23).There was correlation between the MRI findings and the neurologic symptoms in HLD.Conclusion The typical MRI features of HLD is bilateral symmetrical abnormal MRI signal in basal ganglion regions and thalami, mostly with brain atrophy.High DWI signal can be found in progressed HLD.There is correlation between the MRI findings and the neurologic symptoms in HLD.
