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Initial and follow-up brain MRI findings and correlation with the clinical course in Wilson's disease
1Department of Neurology, Seoul National University, College of Medicine, Republic of Korea.
Abstract:
We performed pretreatment brain MRIs in 25 patients with neurologically symptomatic Wilson's disease (WD) and clinical and MRI follow-up in 16 of them. All 25 pretreatment MRIs revealed abnormalities, with abnormal high-signal intensity (HSI) in bilateral thalami being the most common (92%). HSI lesions in the brainstem (84%) and the basal ganglia (72%) were also common. Brain atrophy was present in 88% of the 25 patients. In the follow-up period of 5 to 24 months, during which the patients were treated with D-penicillamine, both HSI lesions and neurologic symptoms improved in 88% of the 16 patients, but the brain atrophy did not change.
Insights
Brain MRI abnormalities are common in Wilson's disease (WD) patients. Treatment with D-penicillamine improved neurological symptoms and MRI lesions, but not brain atrophy.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Wilson's disease (WD) is a genetic disorder causing copper accumulation.
- Neurological symptoms are a common manifestation of WD.
- Brain MRI is crucial for diagnosing and monitoring WD.
Purpose of the Study:
- To characterize pretreatment brain MRI findings in neurologically symptomatic Wilson's disease patients.
- To evaluate the impact of D-penicillamine treatment on MRI abnormalities and neurological symptoms.
Main Methods:
- Pretreatment brain MRIs were performed on 25 patients with symptomatic WD.
- Clinical and MRI follow-up was conducted for 16 patients over 5-24 months.
- Patients received D-penicillamine treatment during the follow-up period.
Main Results:
- All 25 patients showed pretreatment MRI abnormalities, most commonly high-signal intensity (HSI) in thalami (92%), brainstem (84%), and basal ganglia (72%).
- Brain atrophy was observed in 88% of patients.
- During follow-up, 88% of patients showed improvement in HSI lesions and neurological symptoms, while brain atrophy remained unchanged.
Conclusions:
- Pretreatment brain MRI reveals widespread abnormalities in symptomatic Wilson's disease.
- D-penicillamine treatment is effective in improving neurological symptoms and associated MRI lesions.
- Brain atrophy in WD patients may not be reversible with D-penicillamine treatment.