Presentation
Tremor and dystonia.
Patient Data
Age: 20 years
Gender: Female
From the case:
Wilson disease
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T2 and FLAIR hyperintensity in the medulla oblongata, pons, both thalami, putamen, and caudate nuclei. Axial T2 image shows the involvement of the midbrain tegmentum, displaying the 'face of the giant panda' sign.
Case Discussion
Wilson disease, also known as hepatolenticular degeneration, is a multisystem disease caused by abnormal accumulation of copper. It is characterized by early-onset liver cirrhosis, with CNS findings most frequently affecting the basal ganglia and midbrain. The most frequently affected sites are the basal ganglia (especially the putamen), followed by the midbrain, pons, and thalamus. The distribution is bilateral and symmetric.
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