Abstract

A 34-year-old female had experienced head and hand tremors with a dystonic component for 8months. Brain MRI showed T2 high signal intensity in the periaqueductal region, dorsal midbrain and dorsal upper pons. No abnormal uptake was noted on Tc-99m HMPAO SPECT or F-18 FP-CIT PET/CT. Wilson disease was diagnosed according to the 2008 consensus guideline from the American Association for the Study of Liver Disease and 2012 guideline from the European Association for the Study of the Liver. This case demonstrates T2 signal change in the basal ganglia, excluding the putamen, in a Wilson disease patient with relatively severe clinical findings, but normal Tc-99m HMPAO SPECT and F-18 FP-CIT PET/CT.

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