摘要
Abstract
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 .关键词
肝豆状核变性/磁共振成像/基因Key words
Hepatolenticular degeneration/MRI/Gene分类
医药卫生
