Chapter 36 - Wilson disease

Summary

Wilson disease should be considered as a possible diagnosis in any child who presents with liver disease particularly if it is sub acute or chronic. The pathogenesis of Wilson disease is an inability to excrete copper via the bile. Studies with radioactive copper have shown that in the early, presymptomatic stage, the liver takes up the metal avidly. Treatment is conventional as for other forms of epilepsy, but treatment of Wilson disease must be vigorously pursued with penicillamine or trientine. Magnetic resonance imaging (MRI) brain scans may show lesions in the basal ganglia, most commonly the putamen, also widening of the cerebral ventricles and cortical atrophy. Wilson disease is best managed at a specialist clinic. The prognosis for most patients with Wilson disease is excellent but the degree of recovery of the neurological deficit inevitably depends upon the amount of damage to the brain before treatment is started.