Neurological Wilson Disease in a young brazilian adult: a case report

• Autor(a) principal: de Almeida, Laryssa Garcia
• Data de Publicação: 2023
• Outros Autores: Augsten, Ilana Werneck, Raposo, Yan da Silva, Silva, Hiago Antunis, Mendes, Patrícia Marques, de Oliveira, Igor Pereira Matos, da Silva, Eduardo Mendonça Werneck
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Brazilian Journal of Health Review
• Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/60413
• topic: Wilson Disease; inborn errors metal metabolism; dystonia

We report a rare case of Wilson Disease with neurologic features in a 31-years-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 undergoing treatment for an unspecified mood disorder. The clinical picture was characterized by depressive mood, anhedonia, and anxiety and for that, he was using Fluoxetine 40mg daily with good clinical response. He had his first seizure episode on December 3, 2021. He progressed with dysarthria, ataxic gait, dystonia of the right-hand flexor muscles, and intermittent urinary incontinence. Marked worsening was observed after diagnosis of COVID19 on February, 2022. At the clinical evaluation on March 24th, the presence of risorius muscle dystonia (risus sardonicus), resting tremor, and Kayser Fleischer rings at slit-lamp examination was also noted. Cerebrospinal fluid exam without abnormalities. Imaging workup revealed signaled alteration in bilateral putamen, midbrain, and pons. Laboratory tests revealed mild impairment of liver function and abdominal ultrasound with no evident abnormalities. Specific tests confirmed the diagnosis (serum copper and 24-hours urine copper levels elevated and reduced serum ceruloplasmin). This case report represents the importance of a detailed neurological clinical evaluation and association of findings with imaging and laboratory workup. It is a rare disease whose epidemiology in Brazil lacks data and complementary tests have reduced specificity. Early diagnosis and treatment have an impact on the neurological prognosis.