TY - T1的可逆Diffusion-Weighted成像高强度信号在威尔逊疾病JF -神经学乔-神经病学SP - 437 LP - 438 - 10.1212 / WNL。首页0000000000201631六世- 100 - 9盟Naiqing Cai朱盟-林杰盟jit Y1 - 2023/02/28 UR - //www.ez-admanager.com/content/100/9/43首页7.abstract N2 -一个41岁的女人面对动作迟缓,震颤,构音障碍2年前,逐步发展到在治疗帕金森病的认知能力下降。肌张力障碍的进展,最终她失去活动能力,无法说话或走路。After being referred to our hospital, she was diagnosed with Wilson disease (WD) based on the presence of Kayser-Fleischer rings, hypoceruloplasminemia, and ATP7B pathogenic variants (c.2804C>T/p.T935M, c.2975C>T/p.P992L). Neuroimaging revealed abnormalities in the bilateral basal ganglia, thalamus, and brain stem on T2 sequences and hyperintensity along the corticomedullary junction on diffusion-weighted imaging (DWI; Figure, A). DWI high intensity in the corticomedullary junction is the typical feature of neuronal intranuclear inclusion disease.1 The subsequent genetic test ruled out NOTCH2NLC variation, and intranuclear inclusions were not detected in the skin biopsy sample. After treatment with chelating agents and zinc, she made a partial recovery and the DWI high intensity dramatically disappeared (Figure, B). ER -