Wilson disease is an inborn (autosomal recessive) error of copper metabolism characterized by inability of the liver to excrete copper into the bile, with excessive deposition of copper primarily in the liver and in the brain.

Wilson disease occurs in 1 to 4 per 100,000 people and symptoms usually appear between the ages of 6 and 20 years.

In Wilson disease, ceruloplasmin, the serum transport protein for copper, is deficient. Copper accumulates in the tissues of patients primarily in the liver and later in the brain. Accordingly these patients present with either hepatic or neuropsychiatric symptoms.

The severity of the liver damage varies from a simple fatty infiltration to advanced cirrhosis with portosystemic shunts. The brain damage can be present even without a severe hepatic damage.

In the brain there is a predilection for the extrapyramidal system. The initial neurological presentations frequently include dysarthria and tremors, with later manifestations of personality and psychiatric problems, and neurologic abnormalities like Parkinsonian tremors, ataxia, dystonia, and chorea.

Pathologic changes to the central nervous system in Wilson disease are always associated with a significant increase of tissue copper content. Despite the ubiquitous presence of toxic copper within the brain, pathologic findings are limited primarily to the basal ganglia, thalamus, and brain stem.

On MRI study, the brain lesions are usually bilateral and often symmetrical. Lesions are usually hyperintense on T2-weighted images. The high signal intensity of gray matter nuclei on T2 weighted images can be caused by edema, gliosis, necrosis or cystic degeneration. Diffusion-weighted images can show areas of restricted diffusion early in the disease process due to cytotoxic edema or inflammation due to excessive copper deposition. However, this restricted diffusion is not seen in chronic cases. Hypointensity on T2-weighted images can be seen sometimes, secondary to copper deposition or iron deposition. The cause of hyperintensity on T1-weighted images in some patients remains elusive. It has previously been suggested that these abnormalities result from the toxic effect of copper overload in the brain and indirectly from liver failure as a result of copper intoxication.

In this exhibit we will describe the diverse spectrum of intracranial magnetic resonance imaging (MRI) manifestation of Wilson disease in adult as well as pediatric population.

MR images of 33 patients of Wilson disease were reviewed retrospectively. 9 patients had isolated hepatic involvement while 14 presented with neurological symptoms, 6 of whom had mixed form of the disease.