Objective: To describe the quantitative magnetic susceptibility(QSM) in Wilson’s disease (WD) and healthy controls

Background: Quantitative susceptibility mapping (QSM) is a post processing technique that uses high-pass filtered phase images and allows differentiation between paramagnetic and diamagnetic influences on the SWI signal. Previous studies on application of QSM in Wilson’s disease point to its potential as a more tailored imaging modality in patients with Wilson’s disease and asymptomatic individuals.

Method: This study was a prospective study, conducted in the inpatient and outpatient departments of Neurology service of the All India Institute of Medical Sciences, New Delhi. Between June 2021 and December 2022, a total of 23 patients and 9 healthy controls were included. All patients underwent clinical examination, and magnetic resonance imaging followed by analysis for QSM.

Results: The mean ages were 20.30±5.59 and 21±4.36 years respectively across the patient and control groups, with a male predominance. The clinical characteristics of the patients are given in table 1. The most common finding among patients was T2/ FLAIR hyperintensity in the midbrain, seen in 20(86.96%) patients followed by putamen (19(82.61%) patients). Blooming was noted in substantia nigra (14(60.87%) patients), followed by globus pallidus(13(56.52%) patients)[table 2].

The difference between the patient and control group were statistically significant in substantia nigra, red nucleus, globus pallidus, and putamen. Highest sensitivity of 91% was noted at a cut-off of 0.02ppm on both sides for putamen. All the areas had a high specificity [table 3].

Conclusion: QSM demonstrates increased metal deposition in case of patients with WD compared to controls and has potential to be employed in further studies involving those with suspected WD.

Table 1: Baseline characteristics

Table 2

Table 3

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MDS Abstracts - https://www.mdsabstracts.org/abstract/exploring-quantitative-susceptibility-mapping-in-wilsons-disease-a-prospective-cohort-study/