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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
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Atypical neuroimaging in Wilson's disease
Rushad Patell1, Rupal Dosi1, Harshal K Joshi1
1Department of Medicine, Medical College Baroda, Vadodara, India.
BMJ Case Reports
|June 8, 2014
Summary
Wilson disease, a rare copper metabolism disorder, can present with atypical brain MRI findings. Early recognition is crucial for better outcomes in young patients with progressive neurological disease.
Area of Science:
- Neurology
- Metabolic Disorders
- Radiology
Background:
- Wilson disease is a rare genetic disorder affecting copper metabolism.
- Neuroimaging is vital for diagnosing neuropsychiatric symptoms associated with Wilson disease.
Observation:
- A 14-year-old girl presented with rapidly progressive, atypical white matter disease and cystic degeneration on MRI.
- The patient's condition worsened despite treatment with trientine.
Findings:
- The case highlights unusual MRI manifestations of Wilson disease.
- The rapid progression and poor outcome underscore the challenges in managing advanced cases.
Implications:
- Wilson disease should be considered in the differential diagnosis of leucoencephalopathy in young patients.
- Early diagnosis and intervention are critical for improving outcomes in Wilson disease.
