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Diffusion MR imaging changes associated with Wilson disease
1Department of Radiology, Ege University Hospital, Bornova, Izmir, 35100, Turkey.
Abstract:
We herein report the case of a patient with Wilson disease. The patient underwent echo-planar diffusion MR imaging twice, 1.5 years apart. The lesions were in the putamina and caudate nuclei. At the first examination, undertaken after onset of extrapyramidal symptoms, a restricted diffusion pattern was evident. It is likely that this corresponded to cell swelling caused by the accumulation of copper. On the images obtained 1.5 years later, an opposite pattern (an elevated diffusion pattern) was noted. It is likely that this reflected necrosis, spongiform degeneration, and demyelination, which are among the known histopathologic changes associated with Wilson disease.
Insights
This study tracks Wilson disease progression using MRI. Initially, restricted diffusion in brain lesions indicated cell swelling; later, elevated diffusion suggested tissue damage like necrosis and demyelination.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Wilson disease is a genetic disorder causing copper accumulation.
- Neurological symptoms arise from copper deposition in the brain, particularly the basal ganglia.
- Magnetic Resonance Imaging (MRI) is crucial for diagnosing and monitoring Wilson disease.
Observation:
- A patient with Wilson disease underwent serial echo-planar diffusion MRI over 1.5 years.
- Lesions were identified in the putamina and caudate nuclei.
- Initial MRI, coinciding with extrapyramidal symptoms, showed restricted diffusion.
Findings:
- The initial restricted diffusion pattern likely represents cytotoxic edema due to copper accumulation.
- Follow-up MRI revealed an inverse pattern of elevated diffusion.
- This later pattern suggests histopathological changes including necrosis, spongiform degeneration, and demyelination.
Implications:
- Diffusion MRI can reveal dynamic changes in Wilson disease brain lesions.
- These imaging findings correlate with known neuropathological processes in Wilson disease.
- Serial diffusion MRI may aid in assessing disease activity and treatment response.
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