Wilson disease (CNS manifestations)

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Wilson disease, also known as hepatolenticular degeneration, is a multisystem disease due to abnormal accumulation of copper. It is characterized by early onset liver cirrhosis with CNS findings most frequently affecting the basal ganglia and midbrain.

This article aims to discuss the central nervous system manifestations of this condition. For a broad view on the condition, please refer to the main article on Wilson disease.

Clinical presentation

Common neurological clinical features include dysarthria, dystonia, tremor, parkinsonism, choreoathetosis, and ataxia and gait anomalies. Kayser-Fleischer rings are also seen in nearly all patients with neurological manifestations of Wilson disease .

Radiographic features

Neuroimaging features of Wilson disease may vary depending on whether the disease is treated or untreated. The most frequently affected sites are the basal ganglia (especially putamen), followed by midbrain, pons, and thalamus . The distribution is bilateral and symmetric .

CT

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

  • non-enhanced: copper deposition does not increase density on CT
  • post-contrast: lesions do not enhance
MRI

Abnormal T2 hyperintensity in the putamina is the most common MRI abnormality . Additional areas of T2 signal abnormality predominantly affect the deep gray nuclei . Involvement of the midbrain tegmentum can appear as a face of the giant panda sign on axial images. Axial T2 MR at pons may also show the face of a miniature panda sign (cub of the giant panda). This combination is referred to as the double panda sign.

On T1-weighted images in patients presenting with neurologic manifestations, these areas show hypointensity. In contrast, patients with severe hepatic dysfunction show areas of T1 hyperintensity, especially in the globus pallidus, similar to that seen in acquired (non-Wilsonian) hepatocerebral degeneration attributed to manganese deposition .

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