Wilson disease

Case contributed by Dr Md Imdadul Islam

Presentation

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

Patient Data

Age: 25 years
Gender: Male
MRI

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

Ultrasound

Transverse greyscale image showing coarse nodular liver.

Photo

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 visualized 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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