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Wilson's disease: magnetic resonance imaging (MRI) with clinical correlations in 16 cases
E R Barbosa1, P Caramelli, L A Bacheschi
1Department of Neurology, Hospital das Clínicas, University of São Paulo, Brasil.
Abstract:
The purpose of this study was to evaluate MRI findings in a group of patients with Wilson's disease, trying to establish possible correlations between clinical and image data. Sixteen patients (8 males and 8 females), with ages ranging from 11 to 50 years, and duration of illness ranging from 5 months to 32 years, were submitted to MRI in a 1.5T System. Four patients were asymptomatic, 4 had mild neurological findings, 2 were moderately affected and the remaining 6 had a severe form of the disease. All patients were receiving D-penicillamine by the time of the study. The most symptomatic patients presented five or more sites of abnormalities on MRI. The putamen was affected in all symptomatic individuals and one asymptomatic and 11 of them presented dystonia on neurological examination. A striking feature was the peripheral localization of putaminal hyperintense lesions on T2 weighted images. In eight cases, striatum or "substantia nigra" lesions explained parkinsonism observed on neurological examination. MRI seems to be an efficient method to study neurological involvement of Wilson's disease allowing some interesting anatomo-clinical correlations.
Insights
Magnetic Resonance Imaging (MRI) effectively reveals neurological damage in Wilson's disease patients. Brain MRI findings correlate with disease severity and specific symptoms like dystonia and parkinsonism.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Wilson's disease is a genetic disorder causing copper accumulation.
- Neurological symptoms vary widely in Wilson's disease.
- Early diagnosis and monitoring are crucial for managing Wilson's disease.
Purpose of the Study:
- To evaluate MRI findings in Wilson's disease patients.
- To correlate MRI data with clinical presentation and disease severity.
- To assess the utility of MRI in understanding Wilson's disease's neurological impact.
Main Methods:
- 1.5T MRI scans were performed on 16 Wilson's disease patients (8 male, 8 female; ages 11-50).
- Patients exhibited varying disease severity, from asymptomatic to severe neurological involvement.
- Clinical data, including neurological examination findings, were collected and correlated with MRI results.
Main Results:
- MRI detected abnormalities in symptomatic patients, with more than five affected sites in severe cases.
- Putamen involvement was observed in all symptomatic patients and one asymptomatic individual.
- Peripheral hyperintense lesions in the putamen on T2-weighted images were a notable finding.
- Lesions in the striatum or substantia nigra correlated with parkinsonism in 8 patients.
- Dystonia was present in 11 patients with neurological findings.
Conclusions:
- MRI is an efficient tool for assessing neurological involvement in Wilson's disease.
- Specific MRI findings correlate with clinical symptoms, aiding in diagnosis and management.
- This study highlights the value of MRI in establishing anatomo-clinical correlations in Wilson's disease.