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Título

Wilson's disease: progressive dystonic presentation

RESUMO

CASE PRESENTATION: A 16-year-old male patient, previously healthy, presented with involuntary movements that started 2 months ago in the 5th finger of the left hand, later compromising the entire hand. He had non-painful sustained contractions, that occurs at rest, in action and worsened with stress. One month after the onset of the condition, he developed cervical tremor, facial contractions and speech alteration. There were no family history for neurological diseases. On neurological exam he had mild hypotonia, dystonia of the left upper limb, cervical and facial, cervical tremor that worsened with rotation of the head to the right, and alteration in speech due to muscle contraction (dystonia) of the facial/orobuccal muscles. Ophthalmological evaluation showed the presence of Kayser-Fleischer rings. MRI revealed hypersignal in the head of the caudate nucleus and putamen bilaterally. Electroneuromyography showed dystonic movements of the left upper limb. Laboratory tests: hepatic function without alterations, ceruloplasmin < 9 (21-53mg/dl), serum copper: 32 (70-150 µg/dl). DISCUSSION: Wilson's disease is an autosomal recessive genetic disorder of copper metabolism, resulting from the mutation in the ATP7B gene that encodes ceruloplasmin (transmembrane copper transport protein), leading to the accumulation of the metal in the liver, brain, cutaneous tissues, as well as in the cornea (Kayser-Fleischer rings). Typically manifesting by early adulthood, characterized by tremor, dystonia, chorea, parkinsonism, cerebellar and psychiatric symptons, liver disease (tends to be seen in early-onset presentations). MRI shows hypersignal on T2 and hyposignal on T1 in the basal ganglia, thalamus, midbrain (face of the giant panda sign), pons and cerebellum. Laboratory tests show reduced levels of ceruloplasmin, normal or increased serum copper, urinary copper >100 g/24h. The gold standard for diagnosis is liver biopsy. Treatment is based on drugs that chelate or reduce copper absorption. FINAL COMMENTS: In this case, the patient showed predominantly neurological involvement, with the presence of Kayser-fleishcer rings without hepatic/psychiatric involvement. Progressive dystonic condition was observed with early diagnosis based on laboratory and neuroimaging alterations. Early diagnosis is important, and appropriate treatment should be promptly initiated to prevent progressive and irreversible damage.

Palavras Chave

Wilson's disease, ATP7B; Ceruloplasmin; Copper; dystonia