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Wilson's disease: cranial MRI observations and clinical correlation
S Sinha1, A B Taly, S Ravishankar
1Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. sanjib_sinha@nimhans.kar.nic.in
Neuroradiology
|June 6, 2006
Summary
Brain MRI abnormalities are common in Wilson's disease (WD) and correlate with disease severity. These findings help explain the varied clinical symptoms seen in patients with this genetic disorder.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Wilson's disease (WD) is a genetic disorder of copper metabolism.
- Understanding MRI changes in WD is crucial for diagnosis, prognosis, and pathophysiology.
- Previous studies highlight the need for detailed MRI-WD correlation.
Purpose of the Study:
- To describe brain MRI abnormalities in Wilson's disease patients.
- To correlate these MRI findings with clinical manifestations and disease severity.
Main Methods:
- 100 patients with Wilson's disease underwent standard MRI brain protocols.
- Clinical data, including disease severity scores, were collected for all participants.
- Patients' history and manifestations were recorded; most were on de-coppering agents.
Main Results:
- All 93 symptomatic patients showed abnormal brain MRI findings.
- Common abnormalities included cerebral (70%), brainstem (66%), and cerebellar (52%) atrophy.
- Specific signal abnormalities were observed in the putamen (72%), caudate (61%), and thalami (58%), with characteristic signs like "Face of giant panda" also detected.
Conclusions:
- MRI changes are widespread and diverse in symptomatic Wilson's disease patients.
- A significant correlation exists between MRI findings and disease severity scores.
- These MRI-clinical correlations help elucidate the diverse clinical presentations of Wilson's disease.
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