Wilson disease

Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder of copper metabolism, affecting multiple organ systems. 

Radiographic features

• hepatobiliary manifestations of Wilson disease
• CNS manifestations of Wilson disease
• musculoskeletal manifestations of Wilson disease

Neuroimaging

Neuroimaging features may vary depending on whether the disease is treated or untreated. 

The basal ganglia are the most frequently affected site 5.

CT

May demonstrate atrophic changes in the basal ganglia, cortical and cerebellar regions:

NECT: copper deposition does not increase density on CT

CECT: lesions do not contrast-enhance

MR

Hyperintensity in lentiform nuclei and mesencephalic regions on T1 have been described as most common initial MR abnormality 3.  

T2 hyperintensity is also seen typically involving 11: 

basal ganglia

putamen

globus pallidus

caudate nucleus

thalamus: ventrolateral aspect

There may be T2 hyperintensity in the outer rim of the deep gray matter, and/or T1 hyperintensity in cases of copper toxicosis.  

Axial T2 MR at midbrain level can show a face of the giant panda sign, a characteristic finding of Wilson disease.

Diffusion restriction may be seen early in the course of the disease.