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

Neurological Wilson Disease in a Young Brazilian Adult: A Case Report Laryssa Garcia de Almeida α , Ilana Werneck Augsten σ , Yan da Silva Raposo ρ , Hiago Antunis Silva Ѡ , Patrícia Marques Mendes ¥ , Igor Pereira Matos de Oliveira § & Eduardo Mendonça Werneck da Silva χ 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. 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-hour urine copper levels elevated and reduced serum ceruloplasmin). This case report represents the importance of a detailed neurological clinical evaluation and the 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. Keywords: wilson disease. inborn errors in metal metabolism. dystonia. I. I ntroduction ilson's Disease (WD) is a metabolic disorder resulting from biallelic mutations in the ATP7B gene on chromosome 13 1,2,3 of autosomal recessive inheritance 3 , characterized by the toxic accumulation of this element in the liver, córnea, and central nervous system 4 . Author α Ѡ : Neurology Specialist, Hospital das Clínicas Samuel Libânio, 777 Comendador Jose Garcia St, Pouso Alegre, Minas Gerais, MG 37550-000, BRA. Author σ : Neurology Specialist, Fellowship in Vascular Neurology, Hospital das Clínicas Samuel Libânio, 777 Comendador Jose Garcia St, Pouso Alegre, Minas Gerais, MG, 37550-000, BRA. Author ρ ¥ § χ : Neurology Resident, Hospital das Clínicas Samuel Libânio, 777 Comendador Jose Garcia St, Pouso Alegre, Minas Gerais, MG, 37550-000, BRA. e-mail: yanraposo@yahoo.com.br The incidence of these mutations in newborns was estimated at 1:7,000 in Sardinia, Italy 5 and 1.7:100,000 in the Republic of Ireland 6 , in contrast, the prevalence of the disease has been estimated to be between 1:250,000 and 1:300,000 in Sweden and between 1:30,000 and 1:40,000 in other populations 7 . Copper is an essential cofactor for several enzymes 8 and is present in foodstuffs such as seafood, pulses, and nuts 9 . Its metabolism is dependent on the ATP7B gene, which is responsible for encoding ceruloplasmin, and on the ATPase, which incorporates it into the bile and allows its exteriorization with the feces 10,11 . Due to the absence of these mechanisms, copper accumulates in the liver until it spills over into the bloodstream. High levels of cupremia cause disruption of the blood-brain barrier and deposition with a cytotoxic effect in the striatum, globus pallidus, locus coeruleus, substantia nigra, and cerebral cortex 4,12 . II. C ase R eport A 31-year-old male, mixed race, bricklayer, residing in Paraisópolis, Minas Gerais State, Brazil. History of alcoholism and drug use. Diagnosis of previous unspecified mood disorder and using Fluoxetine 40mg/day. No other relevant environmental exposures were reported. Report of a male adult family member diagnosed with liver failure of unknown etiology. Magnetic Resonance Imaging (MRI) of the brain on December 1st, 2021, showed involvement of the putamen, associated with hemosiderin residue, and crus posterius bilaterally, in addition to the midbrain and pons, without restriction to diffusion (images 1A-1D), and an extra-axial parietal left paramedian contrast- enhanced lesion suggestive of meningioma (images 1E- 1F). On December 3rd, 2021, the patient suffered the first generalized clonic tonic seizure while sleeping, and in a follow-up visit on December 21st, he started to use Levetiracetam orally. He was diagnosed with Covid 19 on February 3rd, 2022, with a mild evolution without the need for ventilatory support or complications. The wife noted that the development of the disease was accentuated after the infection. From February 9th, he appeared to have speech and gait disturbance, difficulty mobilizing the right hand, and urinary incontinence. W 17 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals