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.

中文翻译：

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威尔逊病特征的多模态磁共振成像分析：病例报告及文献复习

威尔逊病 (WD) 是一种铜代谢的遗传性疾病。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，很少有与多模态MRI诊断WD相关的研究。在这里，我们报告了一名 WD 患者，该患者接受了 Sanger 测序、常规 MRI 和多模式 MRI 检查，包括磁敏感加权成像 (SWI) 和动脉自旋标记 (ASL)。Sanger 测序显示 ATP7B 基因的外显子 8 中有两个致病突变。裂隙灯检查显示双眼存在 Kayser-Fleischer 环，入院时血清铜蓝蛋白水平低，24 小时尿铜排泄量高。虽然黑质、红核、T1加权成像和T2加权成像显示晶状体核正常，SWI和ASL在这些区域呈低信号。此外，在豆状核和尾状核头部发现脑血流量减少。患者在 1 年零 9 个月的随访后恢复良好，神经系统症状的统一威尔逊疾病评定量表评分仅为 1。脑多模式 MRI 提供了对 WD 的全面了解，这可能弥补传统 MRI 的不足。