Wilson disease

Discussion:

Laboratory testing revealed reduced serum copper at 10.3 µmol/L (normal range 12.9-24.4 µmol/L) and reduced serum ceruloplasmin at 0.12 g/L (normal range 0.23-0.45 g/L).

An ophthalmologic examination was performed and showed Kayser-Fleisher rings in the cornea.

This case demonstrates the typical CNS manifestations of Wilson disease (hepatolenticular degeneration) and the role of imaging in making the correct diagnosis.

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