Presentation
Initially presented with a tremor in upper extremities, predominantly left-sided. In several months she developed head and low extremities tremor, as well as whole body rigidity, mask-like face, and inability to smile.
Patient Data
MRI brain shows bilateral symmetrical T2 hyperintensities within the thalami and putamina, as well as in the midbrain tegmentum and pons (double panda sign). Axial T2/FLAIR and T1 sequences were unavailable.
T1 C+ sequences show increased signal predominantly within the putamina, which was not well seen on the T1 MPRAGE sequence likely due to differences in technique (MPRAGE vs fast spin echo sequences).
Case 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.