Wilson disease

Case contributed by Md Imdadul Islam
Diagnosis certain

Presentation

Irrelevant talk, abnormal behaviour, and difficulty in walking for 2 years, increased in severity in the last 4 months.

Patient Data

Age: 25 years
Gender: Male
mri
This study is a stack
Axial
FLAIR
This study is a stack
Axial
T2
This study is a stack
T1
This study is a stack
Axial
DWI
This study is a stack
Axial
ADC
This study is a stack
Sagittal
T1
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Info

Symmetrical hyperintensity is noted in the bilateral caudate head, putamen, and thalamus on T2/FLAIR showing no restriction on DWI/ADC.

ultrasound
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Info

Transverse greyscale image showing coarse nodular liver.

Photograph
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Info

Kayser-Fleischer ring is present. 

Case Discussion

Symmetrical hyperintensities involving the caudate head, putamen, and thalamus were noted. On ultrasound correlation, liver cirrhosis was observed. Kayser-Fleischer ring visualised on examining the eye.

Sometimes the high signal intensity is noted in tegmentum with preservation of substantial nigra and red nucleus signal giving rise to the face of the giant panda sign is seen, however, this sign is not present in our case.

Differential diagnoses for the MRI brain findings are Leigh disease and pantothenate kinase-associated neurodegeneration (PKAN)

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