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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

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.

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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.