White matter changes in Wilson's disease: A radiological enigma

Area of Science:

• Neurology
• Metabolic Disorders
• Radiology

Background:

• Wilson's disease is a genetic metabolic disorder causing copper accumulation.
• Typically presents with liver issues, but neurological symptoms can occur later.
• Standard MRI brain findings include changes in basal ganglia and brainstem.

Observation:

• A pediatric case of Wilson's disease presented with movement disorders: dystonia, rigidity, and myoclonus.
• The patient exhibited symmetrical white matter changes in the fronto-parietooccipital regions.
• Diffusion restriction was observed in bilateral frontoparietal areas, unusual for chronic cases.

Findings:

• The MRI findings were atypical for Wilson's disease, particularly the white matter lesions and diffusion restriction.
• These atypical findings occurred in a child with confirmed Wilson's disease and neurological symptoms.
• This case highlights the variability of neuroimaging in Wilson's disease.

Implications:

• Atypical MRI findings should be considered in the diagnosis of Wilson's disease with neurological signs.
• Early diagnosis and treatment of Wilson's disease are vital to prevent irreversible neurological damage.
• This case broadens the understanding of neuroimaging presentations in Wilson's disease.