A multimodal neuroimaging and hepatic imaging analysis for hepatic-type and neurological-type Wilson’s disease

Abstract

Aim: Wilson’s disease (WD) primarily manifests in hepatic and neurological symptoms. This study aims to integrate multimodal neuroimaging and hepatic imaging analysis to provide novel insights into the diagnosis and severity assessment of WD.

Methods: This study recruited patients diagnosed with hepatic-type WD (HWD), neurological-type WD (NWD), and healthy controls (HCs). All participants underwent both brain and liver magnetic resonance imaging (MRI) scanning. The quantitative susceptibility mapping (QSM) values, volumes of different brain regions, fat content, and iron quantification in liver regions of interest (ROIs) were compared and analyzed across groups. The diagnostic biomarkers were identified by LASSO (Least Absolute Shrinkage and Selection Operator) regression, and their diagnostic value was evaluated using receiver operating characteristic (ROC) analysis. In addition, the correlation between the severity of neurological symptoms and imaging biomarkers was analyzed.

Results: A total of 38 subjects were included in this study, comprising 17 cases of HWD, 10 NWD, and 11 HCs. Compared to HCs, the WD group, especially NWD, exhibited significant iron deposition in liver segments. Additionally, QSM values were significantly increased. The regional brain volumes were significantly reduced. The ROC curve demonstrates that the combination of brain QSM values and volumes selected exhibits strong discriminatory power in distinguishing between WD vs. HCs, NWD vs. HCs, HWD vs. HCs, and NWD vs. HWD.

Conclusion: Iron deposition in the liver and brain, as well as the extent of regional brain atrophy, may serve as predictive markers for the onset of WD, particularly NWD. All suspected and confirmed WD patients, regardless of NWD or HWD, should undergo brain and liver MRI for diagnostic evaluation and follow-up assessments.

Keywords

Wilson’s disease / magnetic resonance imaging / iron / quantitative susceptibility mapping / volumes

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