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A 41 year old technical employee was diagnosed with Wilson's disease in 1982, 2 years after onset of dysarthria, diplopia, visual deficits, ataxia, and concentration deficits. The patient improved rapidly with d-penicillamine and a copper free diet, and has since returned to normal neurological function. Penicillamine was stopped in 1989 and he changed his diet from copper free to a normal diet in 1987. In 1990 he was put on 800 mg zinc a day. During the past 17 years he underwent 20 determinations of copper concentration in CSF for follow up of treatment (figure) as copper concentrations in CSF can be used as an indicator of brain copper concentration in the cerebral manifestation of Wilson's disease.1-5
Copper was measured by flameless atomic absorption (Perkin Elmer, HGA 500, Überlingen, Germany). The main resonance line was 324.7 nm with deuterium background compensation and argon as a protective gas; the sample volume was 20 μl using an autosampling system. The CSF was measured undiluted. The patient was now again routinely admitted for monitoring of the efficiency of the treatment. He was free of complaints and the neurological examination as well as a neuropsychological test battery and visually evoked potentials were normal. He explicitly denied any change in diet or drug therapy (zinc, 800 mg a day). We found, however, an almost threefold increase of his CSF copper concentration compared with the previous values (figure). Serum copper and coeruloplasmin were unchanged. Confronted with these results the patient admitted that he had been non-adherent to his zinc regimen for the past 2 years by reducing the daily zing intake to less than 400 mg a day. One established parameter for the efficacy of treatment in Wilson's disease is the balancing of the intake and excretion of copper. This, however, was not feasible as the patient refused to take a standardised diet, rendering the daily copper intake unknown. As is displayed in the figure there had been a continuous decrease of the CSF copper concentrations over the past years, although the treatment consisted only of 800 mg zinc a day without a restriction in copper intake. The repeated determination of the CSF copper allowed for the demonstration of a sufficient treatment and for the detection of non-adherence to the treatment regimen before the reappearance of clinical symptoms. We conclude that the determination of CSF copper reliably detects copper accumulation in the CNS and may be used to monitor the treatment efficacy, particularly in patients with non-adherence to (copper free) diet and drug treatment.
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