2023 American Academy of Neurology Abstract Website

Objective:

To assess the radiological profile of patients with Wilson’s disease attending a tertiary care neurology center.

Background:

Wilson’s disease (WD) is an autosomal recessive disorder with varied manifestations, resulting from the deposition of copper in organs such as the brain, liver and cornea. This study was aimed at assessing the radiological profile of patients with WD.

Design/Methods:

This study was conducted at the Neurology department of a tertiary care centre. Patients with diagnosed WD (modified Leipzig score 3 or more) underwent 3 Tesla MRI brain with T1W, T2W, FLAIR, diffusion weighted and susceptibility weighted (SWI) sequences.

Results:

Between June 2021 and September 2022, twenty patients (15 males) of WD had brain MRI. Median age of cohort was 21 years (IQR 16-23). The mean duration of the illness was 5 years (range: 2-17) and 90% (18/20) were receiving chelation therapy at the time of imaging. The most common neurological manifestation was dystonia, seen in all the patients. Tremor was seen in 35% (7/20) and ataxia in 30% (6/20) of patients. The most common radiological finding was the hyperintensity of brainstem structures in T2W and FLAIR sequences, seen in 18/20 (90%) patients, followed by basal ganglia (BG) involvement. Putamen (17/20, 85%) was the most common BG structure involved, followed by the caudate nucleus (14/20, 70%). Thalamic involvement was seen in 12/20 (60%) of cases. SWI revealed blooming, most commonly in substantia nigra (12/20, 60%), followed by the globus pallidus (11/20, 55%), and caudate nucleus (7/20, 35%). Cerebellar and cerebral atrophy were seen in 14/20 (70%) and 9/20 (45%) patients, respectively.

Conclusions:

Brainstem involvement was seen most common radiological finding in our cohort, followed by the basal ganglia (putamen) involvement. Findings from our study need to be validated in larger studies and correlated with clinical features, stage of the disease and treatment status.