Wilson’s disease: case report

Abstract

Background: Wilson’s disease, also known as hepatolenticular degeneration, was first described by the British neurologist Kinnier Wilson in 1912. The estimated prevalence of Wilson’s disease is 1 case in 30,000 births in most populations. Some studies suggest that men and women are affected equally. The clinical manifestations of Wilson’s disease are predominantly hepatic, neurological, and psychiatric, and some patients may have a combination of these. The Clinical Practice Guidelines for Wilson’s disease recommend penicillamine, trientine, zinc, tetrathiomolybdate, and dimercaprol as medications. Clinical case: We present a clinical case of a 32-year-old female patient who presented tremors in the upper limbs, progressive, bilateral at rest and intention, which made writing difficult. Two months later, the patient notes gait disorders, with clumsiness, lateropulsion, and dystonic position of the left foot, during evolution hypophonia and dysphagia, are added, both for solids and liquids, making it difficult but not preventing feeding, as well as mental slowness and disorder of mood. Penicillamine was indicated and there was improvement in her symptoms in the following consultations. Conclusions: The prognosis for patients with good adherence to treatment is excellent, even in some who already have advan- ced liver disease due to the disease.