What are the characteristic MRI findings in Wilson disease?

MRI Findings in Wilson's Disease

The most characteristic MRI findings in Wilson's disease include hyperintensity on T2-weighted images in the basal ganglia, the "face of the giant panda" sign, tectal plate hyperintensity, and central pontine myelinolysis (CPM)-like abnormalities with simultaneous involvement of basal ganglia, thalamus, and brainstem. 1

Primary MRI Findings

• The most frequent finding is hyperintensity on T2-weighted MRI in the region of the basal ganglia, with MRI being more sensitive than CT in detecting these lesions 1
• Abnormal findings are not limited to the basal ganglia and can be present in various brain regions 1
• Significant abnormalities on brain imaging may be present even in individuals prior to the onset of neurological symptoms 1

Pathognomonic MRI Signs

• The "face of the giant panda" sign is a characteristic finding in Wilson's disease but is found only in a minority of patients (approximately 14-15% of all cases and 27.3% of neurological cases) 1, 2, 3
• Hyperintensities in the tectal plate (found in 75% of cases) and central pons (CPM-like abnormalities found in 62.5% of cases) are virtually pathognomonic of Wilson's disease 1, 3
• Simultaneous involvement of basal ganglia, thalamus, and brainstem (found in 55.3% of cases) is highly specific for Wilson's disease 1, 3

Additional MRI Signs

• "Miniature panda" sign appears in approximately 12% of all patients and 21.8% of neurological cases 2
• "Split thalamus" sign is seen in about 7% of all patients and 12.7% of neurological cases 2
• "Bright claustrum" and "whorl" signs are less common, appearing in approximately 1% of patients 2

Clinical Correlation

• MRI abnormalities are primarily observed in patients with neurological symptoms 2
• These signs are significantly associated with early age of onset/diagnosis, more severe neurological presentation, and lower ceruloplasmin levels 2
• While these MRI findings are highly suggestive of Wilson's disease, they can occasionally be found in other disorders, so clinical correlation is essential 2, 3

Advanced MRI Techniques

• Newer MRI sequences and techniques such as susceptibility-weighted images, diffusion MRI, tractography, and quantitative susceptibility mapping can provide additional diagnostic information 4
• Brain MRI semiquantitative scales have been proposed to assess disease severity 4
• Volumetric studies and brain iron accumulation MRI analysis suggest brain atrophy and iron accumulation as potential biomarkers of neurological disease severity 4

Diagnostic Considerations

• MRI should be considered prior to treatment in all patients with neurologic Wilson's disease and should be part of the evaluation of any patient presenting with neurological symptoms consistent with Wilson's disease 1
• MRI is more sensitive than CT for detecting brain lesions in Wilson's disease 1
• Despite the characteristic MRI findings, diagnosis should be confirmed with other clinical and laboratory tests, as Wilson's disease can present with varying clinical manifestations 5