Wilson disease

What it is

Wilson disease is an autosomal recessive disease of copper (Cu). The metabolic abnormalities are increased copper absorption from the small intestine and decreased hepatic copper excretion, so hepatic secretion of copper is impaired. It is caused by a defect in the ATP 7B gene located on chromosome 13.

Everything after that is deposition: the features result from excessive copper deposition in the tissues, especially the brain, liver and cornea.

Who it shows up in, and how

The onset of symptoms is usually between 10 - 25 years. Children usually present with liver disease, whereas the first sign of disease in young adults is often neurological disease.

• Liver: hepatitis and cirrhosis, written elsewhere as acute hepatitis or cirrhosis.
• Neurological: basal ganglia degeneration, with speech and behavioral problems often the first manifestations; also asterixis, chorea and dementia. The neuropsychiatric disturbances named are tremor, chorea, dysarthria, bizarre behavior and psychosis.
• Cornea: Kayser-Fleischer rings.
• Renal tubular acidosis, especially Fanconi syndrome.
• Hemolysis.
• Blue nails.

The worked case is a 26-year-old male with progressive writhing and jerking movements of extremities, excessive drooling and multiple joint pains. The clinical sign demonstrated is the Kayser-Fleischer ring, and the diagnosis is Wilson's disease.