Wilson’s disease – case study

Written by Dull Noémi Kinga, Szász József Attila, Szatmári Szabolcs

Wilson’s disease is a multisystemic rare genetic disorder in which copper accumulates in different parts of the body, resulting in the destruction of liver cells and neurons – predominantly in the basal ganglia. Clinically the patients exhibit flapping tremor and dysarthria because of the lesions in the central nervous system but in some cases the disease can manifest by hepatic or ocular simptomatology. We describe the case of a 34 year old male patient diagnostised with Wilson’s disease at the age of 18, having predominantly neurological symptoms: intensifying tremor of the upper limbs and dysarthria. He had been on treatment with D-penicillamin (DPA) which he took irregularly in the past years. The laboratory tests showed low copper and coeruloplasmine levels in the blood and high 24h urinary copper excretion. The cerebral MRI exam showed T2 hyperintensities bilaterally in the thalamus and in the pontomesencephalic region, whereas the basal gangliae were hypointense. Because Wilson’s disease does not have an aetiologic treatment, the proper cooperation is very important between doctor and patient as well as the appropriate long term follow up by periodic clinical, laboratory and imagistic exams (complete blood count, liver biochemistries, blood copper and coeruloplasmine levels, urinary 24h copper excretion, abdominal ultrasound and cerebral MRI) and based on their results the regular therapeutic overview is recommended.


Keywords: hepatolenticular degeneration, D-penicillamine treatment, Wilson’s disease

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