Wang Yun, Jia Zejin, Lyu Yuelei, Dong Qian, Li Shujuan, Hu Wenli
Department of Neurology, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, China.
Department of Imaging, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, China.
Open Life Sci. 2021 Aug 16;16(1):793-799. doi: 10.1515/biol-2021-0071. eCollection 2021.
Wilson's disease (WD) is an inherited disorder of copper metabolism. Multimodal magnetic resonance imaging (MRI) has been reported to provide evidence of the extent and severity of brain lesions. However, there are few studies related to the diagnosis of WD with multimodal MRI. Here, we reported a WD patient who was subjected to Sanger sequencing, conventional MRI, and multimodal MRI examinations, including susceptibility-weighted imaging (SWI) and arterial spin labeling (ASL). Sanger sequencing demonstrated two pathogenic mutations in exon 8 of the ATP7B gene. Slit-lamp examination revealed the presence of Kayser-Fleischer rings in both eyes, as well as low serum ceruloplasmin and high 24-h urinary copper excretion on admission. Although the substantia nigra, red nucleus, and lenticular nucleus on T1-weighted imaging and T2-weighted imaging were normal, SWI and ASL showed hypointensities in these regions. Besides, decreased cerebral blood flow was found in the lenticular nucleus and the head of caudate nucleus. The patient recovered well after 1 year and 9 months of follow-up, with only a Unified Wilson Disease Rating Scale score of 1 for neurological symptom. Brain multimodal MRI provided a thorough insight into the WD, which might make up for the deficiency of conventional MRI.
威尔逊病（WD）是一种遗传性铜代谢紊乱疾病。据报道，多模态磁共振成像（MRI）可提供脑损伤范围和严重程度的证据。然而，关于多模态MRI诊断WD的研究较少。在此，我们报告了一名接受桑格测序、传统MRI以及多模态MRI检查（包括磁敏感加权成像（SWI）和动脉自旋标记（ASL））的WD患者。桑格测序显示ATP7B基因第8外显子存在两个致病突变。裂隙灯检查发现双眼均有凯-弗环，入院时血清铜蓝蛋白水平低，24小时尿铜排泄量高。尽管在T1加权成像和T2加权成像上黑质、红核和豆状核正常，但SWI和ASL显示这些区域呈低信号。此外，在豆状核和尾状核头部发现脑血流量减少。经过1年9个月的随访，患者恢复良好，神经症状的统一威尔逊病评定量表评分为1分。脑多模态MRI对WD有全面的了解，可能弥补传统MRI的不足。
