General description

Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene located on chromosome 13q14.3, leading to defective copper metabolism. This results in the accumulation of copper in various organs, including the liver, basal ganglia, cornea (Kayser-Fleischer rings), and kidneys, causing multi-organ damage.

The disease typically presents between the ages of 10 and 20, with early symptoms often involving neurological issues such as parkinsonism, dystonia, ataxia, and speech difficulties. Psychiatric symptoms like personality changes, depression, and anxiety are also common, especially in adolescents. In pediatric cases, hepatic impairment is often the initial sign, while in older children and adolescents, neurological symptoms and liver dysfunction are prominent. Other symptoms may include tremors, gait disturbances, and renal issues, such as hematuria.

Radiographic features

Basal ganglia

T2WI and FLAIR reveal bilateral, symmetric hyperintensity in the basal ganglia, thalamus, and cerebral white matter. In the basal ganglia, T2WI, FLAIR, T2*WI, and SWI demonstrate inhomogeneous hypointensity, reflecting iron and copper deposits.

In cases of hepatic impairment, MRI shows bilateral T1WI hyperintensity, indicating manganese deposition due to liver dysfunction.

Midbrain and pons

The "face of the giant panda sign" refers to a characteristic MRI finding in the midbrain. On T2WI and FLAIR, there is high signal intensity in the tegmentum, excluding the red nucleus, lateral part of the substantia nigra, and the superior colliculus, which creates a pattern resembling a panda's face.

On T2WI and FLAIR, symmetrical high signal intensity is observed in the basilar part of the pons. Among early-onset extrapyramidal disorders, this imaging finding is considered characteristic of Wilson disease.

Thalamus

T2WI and FLAIR show bilateral hyperintensity in the lateral portions of the thalamus, a characteristic feature of Wilson disease.

White matter

T2WI and FLAIR show bilateral hyperintensity in the external capsule, middle cerebellar peduncles, and cerebellar dentate nuclei.

Cerebral atrophy

MRI reveals cerebral atrophy, most prominently in the frontal lobe.