WILSON’S DISEASE MIMICKING ESSENTIAL TREMOR: A CASE REPORT

Abstract

Purpose: To report a case of Wilson's Disease (WD) with a late and atypical neurological presentation, mimicking other tremor disorders, and to highlight the importance of a comprehensive diagnostic investigation to prevent treatment delays. Case description: A 43-year-old woman with no family history presented with asymmetric upper limb tremor, head tremor, and depressed mood being referred to the Neurology Service of the Federal Hospital of Lagoa with suspected demyelinating disease, but the clinical evolution and new magnetic resonance imaging scans revealed findings characteristic of a metabolic disease, such as the "face of the giant panda" sign. Laboratory confirmation included low serum ceruloplasmin, elevated urinary copper, and the presence of Kayser-Fleischer rings. For molecular confirmation, sequencing of the ATP7B gene (13q14.3) revealed two likely pathogenic variants in heterozygosity: c.2762G>A p.(Ser921Asn) in exon 12 and c.3818C>T p.(Pro1273Leu) in exon 18. Although the phase of the variants was not determined (cis or trans), the presence of the corresponding WD phenotype is strongly suggestive that they are on different chromosomes (in trans), characterizing compound heterozygosity. Conclusion: The case illustrates a late and phenotypically atypical presentation of WD, reinforcing the need to consider it in the differential diagnosis of tremors, even in middle-aged patients. In this case, the diagnosis was confirmed by the Leipzig clinical score and by molecular analysis of the ATP7B gene, which revealed a possible compound heterozygosity (phase not determined) with two variants classified as likely pathogenic. The integration of clinical, imaging, and genetic data is crucial for early diagnosis, enabling proper management and the prevention of irreversible neurological damage.