Wilson's disease

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Central nervous system

Wilson's disease

Alternative Names:

Hepatolenticular degeneration
Symptoms:

enlargement of the abdomen (abdominal distention)
splenomegaly
yellow skin (jaundice) or eye color (icterus)
vomiting blood
weakness
tremors of the arms or hands
difficulty moving extremities, stiffness
abnormal extremity posture (dystonia)
slow movements
difficulty walking
movement - unpredictable and jerky
movement - uncontrollable
movement - slow
weakness of the head, neck, face, or arms
speech impairment, poor enunciation
slow or decreased facial movement/expression
emotional or behavioral changes
confusion or delirium
dementia (loss of multiple brain functions)

Signs and tests:

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An eye examination may show:

Kayser-Fleischer rings (rusty or brown-colored ring around the iris).
Eye movement may be restricted.

A physical 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 muscle control, muscle tremors, loss of cognitive and intellectual functions, loss of memory, confusion (delirium or dementia), and other damage.

Lab findings may include:

Serum ceruloplasmin - low (although it is normal in 5% of cases)
Serum copper - low in spite of the copper deposits in tissues
Urine copper - high
CBC - may show hemolytic anemia or decreased white blood cell count
Serum uric acid levels - low

If there are liver problems, lab abnormalities include:

PT/PTT - elevated
SGOT/SGPT - elevated
Albumin - decreased
Bilirubin - elevated

Other tests findings may include:

Head MRI or head CT scan may be abnormal, especially in a region of the brain called the basal ganglia, but nonspecific.
Abdominal x-ray, abdominal MRI, or CT scan of the abdomen may indicate liver disease or other abnormality.
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 increase the protein and amino acid level in a 24-hr. urine specimen.

The specific gene responsible for the abnormality (mutation) that causes Wilson's disease has been identified. It is called ATP7B. However, a simple genetic test to screen for Wilson's disease has not yet been developed. Testing is complicated because there are many possible mutations from this gene.