Presentation
Patient presents with Kaiser-Fleischer rings and worsening bilateral upper extremity adventitious movements.
Patient Data
MRI of the brain demonstrates symmetric hyperintensity on T2/FLAIR involving the bilateral putamina and to a lesser extent, the caudate nuclei. Additional hyperintensity is seen in the midbrain tegmentum and dorsal pons. There is mild atrophy of the deep gray nuclei, suggestive of more chronic disease. On T1 weighted imaging we see hypointensity of the affected areas. There is no restricted diffusion, abnormal enhancement, or susceptibility. There is an incidental focus of susceptibility in the left corona radiata suggestive of remote microhaemorrhage.
Case Discussion
This is a confirmed case represents the typical appearance of the CNS manifestations of Wilson disease displaying involvement of the putamina, midbrain, and pons. In this case, there is mild atrophy rather than swelling of the deep gray nuclei, suggestive of more chronic disease.
Co-Author: Daniel P. Gewolb, M.D.