Cranial MR findings in Wilson's disease

Area of Science:

• Radiology
• Neurology
• Hepatology

Background:

• Wilson's disease (WD) is a genetic disorder of copper metabolism.
• Cranial magnetic resonance imaging (MRI) is crucial for diagnosing neurological manifestations of WD.
• Understanding MRI patterns aids in early detection and management.

Purpose of the Study:

• To characterize the diverse cranial MRI appearances in patients with Wilson's disease.
• To correlate MRI findings with disease presentation (hepatic vs. neurological involvement).

Main Methods:

• Retrospective review of cranial MRI examinations in 30 patients diagnosed with Wilson's disease.
• Patients included asymptomatic siblings, those with isolated hepatic involvement, and those with neurological involvement.
• Analysis of MRI findings, including signal intensity, lesion patterns, and affected brain regions.

Main Results:

• Symptomatic patients (n=23) exhibited abnormal MRI findings, with atrophy being common.
• Putamen and pons were most frequently affected in neurological cases, showing symmetric, bilateral, concentric-laminar T2 hyperintensity in the putamen.
• Increased T1 signal in basal ganglia (globus pallidus) was noted in most patients with hepatic dysfunction.

Conclusions:

• Cranial MRI, particularly T2-weighted images, suggests WD through atrophy and specific lesions (putamen, substantia nigra, thalamus, pons).
• Hepatic involvement may manifest as increased T1 signal in the basal ganglia.
• Age-related differences in MRI findings exist, with potential absence of putaminal lesions and T2 hypointensity in basal ganglia in adults.