Wilson disease (CNS manifestations)

Case contributed by Joshua Alan Goldwag
Diagnosis certain

Presentation

Patient presents with Kaiser-Fleischer rings and worsening bilateral upper extremity adventitious movements.

Patient Data

Age: 30 years
Gender: Male

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 microhemorrhage.

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.

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