Development of neurologic symptoms in a patient with asymptomatic Wilson's disease treated with penicillamine.

OBJECTIVE

To report a case of presymptomatic Wilson's disease in a patient who became severely neurologically disabled after treatment with penicillamine and to discuss alternative initial therapy for such patients.

DESIGN

Case report. The patient described is briefly compared with a previously studied group of 13 similar presymptomatic patients who received zinc therapy without any clinical worsening and who have had 3 to 9 years of follow-up.

SETTING

Referral hospital.

PATIENTS

The patient was referred to us.

INTERVENTION

The patient had initially been treated with penicillamine.

MAIN OUTCOME MEASURE

The main outcome of interest is permanent neurologic disability, depending on type of initial treatment.

RESULTS

The result of initial penicillamine therapy in the patient described is permanent neurologic disability. This is believed to be due to mobilization and redistribution of hepatic copper causing higher levels of copper in key areas of the brain.

CONCLUSION

We conclude that penicillamine used as initial therapy, even in patients with neurologically asymptomatic Wilson's disease, increases the risk of inducing permanent neurologic damage.