Wilson's disease
Alternative names:
hepatolenticular degeneration
Symptoms:
Signs and tests:
Eye examination may show Kayser-Fleischer rings (rusty or brown-colored ring around the iris). Eye movement may be restricted. Examination may show signs of liver or spleen disorders (including cirrhosis and liver necrosis), damage to the central nervous system including loss of coordination, loss of muscular control, muscle tremors, loss of cognitive and intellectual functions, loss of memory, confusion (delirium or dementia), and other damage.
Serum ceruloplasmin is low. Serum copper is low (because the copper deposits in the tissues). Urine copper is high. CBC may show hemolytic anemia or decreased white blood cell count. Serum uric acid levels are low.
Lab abnormalities with liver insufficiency: A head MRI or head CT scan may be abnormal but nonspecific. An abdominal X-ray, abdominal MRI, or CT scan of the abdomen may indicate liver disease or other abnormality. A liver biopsy or biopsy of the kidneys or other suspect tissue shows deposits of copper, and shows tissue changes that indicate damage to the tissues. This disease may also alter the results of a 24-hr. urine protein.
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