Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3

© 2023. Laryssa Garcia de Almeida, Ilana Werneck Augsten, Yan da Silva Raposo, Hiago Antunis Silva, Patrícia Marques Mendes, Igor Pereira Matos de Oliveira & Eduardo Mendonça Werneck da Silva. This research/review article is distributed under the terms of the Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0). You must give appropriate credit to authors and reference this article if parts of the article are reproduced in any manner. Applicable licensing terms are at https://creativecommons.org/licenses/by-nc-nd/4.0/. Neurological Wilson Disease in a Young Brazilian Adult: A Case Report By Laryssa Garcia de Almeida, Ilana Werneck Augsten, Yan da Silva Raposo, Hiago Antunis Silva, Patrícia Marques Mendes, Igor Pereira Matos de Oliveira & Eduardo Mendonça Werneck da Silva Abstract- We report a rare case of Wilson’s Disease with neurologic features in a 31-year-old man. This disease consists of a disturbance of copper metabolism secondary to a mutation in the gene responsible for encoding the tissue transporter and the enzyme that incorporates the excess element into bile, generating toxic accumulation in the liver, cornea, and central nervous system. According to his wife, the patient had been treated for an unspecified mood disorder. The clinical picture was characterized by depressive mood, anhedonia, and anxiety. He had his first seizure episode on December 3rd, 2021. He progressed with dysarthria, ataxic gait, dystonia of the right-hand flexor muscles, and intermittent urinary incontinence. Marked worsening was observed after the diagnosis of COVID-19 in February 2022. At the clinical evaluation on March 24th, risorius muscle dystonia (risus sardonicus), resting tremor, and Kayser Fleischer rings at slit-lamp examination was also noted. Keywords: wilson disease. inborn errors in metal metabolism. dystonia. GJMR-A Classification: NLM: WL 350 NeurologicalWilsonDiseaseinaYoungBrazilianAdultACaseReport Strictly as per the compliance and regulations of: Global Journal of Medical Research: A Neurology & Nervous System Volume 23 Issue 3 Version 1.0 Year 2023 Type: Double Blind Peer Reviewed International Research Journal Publisher: Global Journals Online ISSN: 2249-4618 & Print ISSN: 0975-5888