Imaging and Clinical Worsening After Penicillamine Treatment in Wilson's Disease

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Authors:  Hélio A.G. Teive, Arnolfo de Carvalho, Renato P. Munhoz, Adriana Moro, Mariana Moscovich and Egberto Reis Barbosa

Article first published online:   16 AUG 2015 | DOI: 10.1002/mdc3.12181

This T2-weighted brain MRI shows bilateral and symmetric hyperintensities in the basal ganglia, thalamus, and middle cerebellar peduncles (MCPs), before (Fig. 1A,B) and after (Fig. 1C,D) the use of penicillamine. These images are related to a 22-year-old man with jaw-opening dystonia and mild bilateral parkinsonism. Kayser-Fleischer rings were observed. Laboratory tests showed low ceruloplasmin (6 μg/dL), elevated urinary copper (200 μg/24 hours), and markers of hepatic dysfunction. DNA analysis revealed a pathologic mutation in the ATM gene. Wilson's disease (WD) was confirmed and he was started on penicillamine up to 750 mg a day. After 20 days, the patient developed an abrupt, intense worsening of the dystonia (generalized dystonia, predominantly oromandibular, bibrachial, and axial). A new brain MRI showed an exacerbation of the previous findings, particularly in the MCPs (Fig. 1). Penicillamine was discontinued; however, the patient did not improve from previous symptoms. The use of penicillamine in patients with WD, particularly in the dystonic forms, is controversial, including several reports of worsening of symptoms after initial therapy.[1] We believe that this worsening could be the result of a secondary demyelinization, once white mater changes can occur in patients with WD.[2] Brewer suggested that penicillamine should not be used as initial therapy in WD.[1] On the other hand, Walshe considered penicillamine as the treatment of choice for these patients.[3] In the case presented here, there was an abrupt, intense worsening of dystonia after treatment with penicillamine.


Figure 1. (A and B) Brain MRI showing bilateral and symmetric hyperintensities in the MCPs, before the use of penicillamine. (C and D) Brain MRI showing bilateral and symmetric hyperintensities in the MCPs, after the use of penicillamine.



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