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Título

Neurological Wilson Disease in a young adult: a case report

RESUMO

Case report: A 28-years-old male, mixed race, bricklayer, residing in Paraisópolis, Minas Gerais State, Brazil. History of alcoholism and use of narcotics. On December 3rd, 2021, the patient suffered the first generalized clonic tonic seizure while sleeping. Magnetic resonance imaging (MRI) of the brain this month detected a brain tumor. Levetiracetam was orally initiated on December 21st. He was diagnosed with Covid 19 on February 03rd, 2022, but with a benign evolution. The wife noticed from February 9th speech and gait disturbance, difficulty mobilizing the right hand, and urinary incontinence. On February 16th, the anticonvulsant was switched to Phenytoin orally and associated with Dexamethasone orally. Cerebrospinal fluid (CSF) on March 21th revealed a cell count of 0 units; glucose 89 mg/dL, lactate 15.7 mg/dL, gram without staining bacteria, and CSF culture without bacterial growth. He was hospitalized on March 24th for social reasons. The patient presented to the neurological examination risus sardonicus and right-hand flexor dystonia and ataxic gait. Magnetic resonance imaging (MRI) of the brain on April 01st, 2022 showed bilateral and symmetrical involvement of the basal ganglia and crus posterius, in addition to the midbrain and pons, and cerebellar peduncles. T2 FLAIR demonstrates a focus on diffusion restriction without significant expansive effect or paramagnetic contrast enhancement. Laboratory workup on March 24th revealed total serum copper of 24.6 mg/dL, serum ceruloplasmin of 7.0 mg/dL, and, finally, a 24-hours urine copper test of 187.4 mg/dL which confirmed the diagnosis of Wilson disease. Penicillamine was started at low bose, however, he is evolving with neurological worsening. Discussion: Incipient neurological symptoms are subtle and nonspecific and begin on average between 20 and 40 years. Neurological impairment occurs about a decade after liver failure and, therefore, are signs of advanced disease. Clinical worsening may occur after starting Penicillamine. Final comments: It is a rare disease whose epidemiology in Brazil lacks data and complementary tests have reduced specificity. Diagnosis at an advanced stage of the disease compromises the neurological prognosis.