Computed tomography of Wilson disease

Area of Science:

• Neurology
• Radiology
• Hepatology

Background:

• Wilson disease (hepatolenticular degeneration) is a genetic disorder causing copper accumulation.
• Neurological and hepatic manifestations are common in Wilson disease.
• Computed tomography (CT) is a valuable imaging tool for assessing brain structure.

Purpose of the Study:

• To evaluate the utility of CT in detecting brain abnormalities in patients diagnosed with Wilson disease.
• To correlate CT findings with the clinical presentation of Wilson disease.

Main Methods:

• Computed tomography (CT) scans were performed on 25 patients with biochemically confirmed Wilson disease.
• CT findings were analyzed for atrophy, hypodense lesions, and other structural changes.
• Clinical presentation (hepatic vs. neurological) was considered in relation to CT results.

Main Results:

• CT scans were normal in 7 out of 25 patients; 5 of these had the hepatic form of Wilson disease.
• Mild CT abnormalities, including basal ganglia and cerebellar atrophy, were observed in 10 patients.
• Severe CT abnormalities, such as subcortical and brainstem atrophy with hypodense lesions, were found in 8 patients.
• Hypodense lesions in the lentiform and dentate nuclei were noted, but quantitative analysis did not show significant differences from normal values.

Conclusions:

• CT imaging can reveal brain structural changes in Wilson disease, even in clinically asymptomatic or primarily hepatic forms.
• The severity of CT abnormalities appears to correlate with the neurological involvement in Wilson disease.
• While visual assessment detects lesions, quantitative CT analysis may require further refinement for subtle changes in Wilson disease.