目的：探讨肝豆状核变性患者的非典型头颅M RI表现特点。方法：本文分析了2例经临床生化及基因诊断的肝豆状核变性患者的头颅M RI表现及临床特点，并结合文献就已报道病例做回顾分析。结果：肝豆状核变性患者的典型头颅M RI表现为双侧豆状核、丘脑、中脑等部位损害。本文中2例患者头颅MRI均提示皮质下白质低T1WI、高T2WI及高Flair异常信号，较为少见。结合既往文献报道，共13例肝豆状核变性患者，头颅M RI均提示皮质下白质异常信号，其中9例患者病灶累及大脑皮层（额叶9例、顶叶4例、颞叶2例）。13例患者中，11例有运动迟缓、活动障碍等锥体外系表现，6例智力减退或痴呆，9例有癫痫发作。此类患者癫痫发作比例较高可能与病灶累及皮质及皮质下白质相关，暂未提示特异的A T P7B基因突变位点。结论：肝豆状核变性患者的头颅M RI表现多变，且和临床表现密切相关。%Objective:To explore the atypical cranial MRI manifestation of patients with Wilson’s disease (WD) .Methods :The clinical features and cranial MRI manifestation of two patients with WD ,who were confirmed with clinical biochemistry and gene diagnosis ,were analyzed .Retrospectively analysis of reported cases was conducted based on review of literatures . Results:The typical WD MRI manifestations were lesions at bilateral lenticular nucleus ,thalamus and midbrain .However , these two cases showed subcortical hypointense on T 1WI ,hyperintense on T2WI ,and Flair hyperintense ,which were rare . According to the literature ,13 WD patients’ cranial MRI showed abnormal signal of subcortical white ,and lesions involved cerebral cortex in 9 of them (9 cases of frontal lobe ,4 cases of parietal lobe ,2 cases of temporal lobe ) .Among these 13 patients ,9 contained extrapyramidal manifestation as bradykinesia ,movement disorder and etc ,6 had intellectual impairment or dementia ,and 9 had epileptic seizure .The high rate of seizure might be related to cortical or subcortical lesions ,which had no special relationship with particular mutation in ATP7B gene .Conclusions :The cranial MRI manifestations of WD patients are variable ,and closely related to clinical symptoms .
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