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Título

WILSON’S DISEASE WITH PERIPHERAL NERVOUS SYSTEM INVOLVEMENT: ATYPICAL PRESENTATION OF A COPPER DEPOSIT DISEASE

RESUMO

CASE REPORT: Male, 21 years old, known to have Wilson’s Disease for 1 year. Two months after admission, he started to lose strength in the lower limbs after starting treatment with D-penicillamine. On examination of the lower limbs, he presented proximal grade IV and distal grade II strength, in addition to areflexia. He also had hypopalesthesia and hypoesthesia distal. Examination of upper limb motricity, cranial nerves and coordination showed no changes. The slit lamp examination showed the presence of Kayser-Fleischer rings and the cerebrospinal fluid did not show protein-cytological dissociation. Electroneuromyography showed marked distal axonal polyneuropathy, predominantly motor, and a diagnostic hypothesis of a polyneuropathy of metabolic/toxic cause was raised due to the use of medication. The treatment instituted was the exchange of the copper chelator in addition to symptomatic medications for peripheral polyneuropathy, resulting in improved motor strength. DISCUSSION: Wilson’s disease is an autosomal recessive condition caused by a mutation in the ATP7B gene, responsible for copper metabolism. Its global prevalence is estimated at 1/10000 to 1/30000. About ⅓ of patients have neurological manifestations, which are mainly represented by movement disorders, such as dystonic, ataxic and parkinsonian syndromes, with peripheral nerve involvement being a rare event. The disease associated with polyneuropathy is generally characterized by distal and symmetrical sensory and/or motor involvement. Furthermore, drugs such as D-penicillamine may be associated with polyneuropathies, inferring a toxic cause for this condition in the context of Wilson’s disease. The patient under study, despite the diagnosis of Wilson’s disease 1 year ago, presented symptoms after the introduction of D-penicillamine therapy. It is not yet possible to establish a precise cause and effect relationship with the initiation of this drug, but this highlights the importance of new studies aimed at evaluating this condition. FINAL COMMENTS: In the context of symptoms compatible with peripheral neuropathy in patients with Wilson’s disease, it is important to consider storage disease itself as etiologies, as well as the use of copper chelating medications such as D-penicillamine.