Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3
On February 16th, he attended the consultation with the responsible physician who, associated the symptoms with the anticonvulsant and switched to Phenytoin 100mg twice a day and associated Dexamethasone orally. It evolved five days later with intermittent hiccups and prostration that lasted approximately three days. Cerebrospinal fluid (CSF) collected On March 21st revealed a cell count of 0 unit; glucose 89 mg/dL, lactate 15.7 mg/dL, gram without staining bactéria, and CSF culture without bacterial growth. He was hospitalized on March 24th for social reasons to collect WD screening tests. The patient presented to the neurological examination with regular general condition, good spatial orientation, alertness, Glasgow Coma Scale 15, hypomimia, cranial nerve pairs exam without abnormalities, isochoric pupils, normal extrinsic ocular motricity, risus sardonicus, deep tendon reflexes 2/2, muscle strength 5/5 in all testable upper and lower limb muscle groups, somaesthesia, right-hand flexor dystonia, and ataxic gait. Upon slit lamp examination, the presence of Kayser-Fleischer rings was noted. Laboratory workup of March 24th revealed aminotransferase (AST) 37 mg/dL, alanine aminotransferase (ALT) 35 mg/dL, total bilirubin test 1,00 mg/dL, albumin test 3,7 mg/dL, international normalized ratio (INR) 1,17, and platelets 88x10 9 /L. Tests for disorders of Copper metabolism of the same date revealed total serum copper 24,6 mg/dL (reference range (RR) 70mg/dL-150mg/dL), serum ceruloplasmin 7,0 mg/dL (RR 20mg/dL-60mg/dL) and, finally, 24- hours urine copper test 187,4 mg/dL (RR 70mg/dL- 150mg/dL). Child-Pugh, Fibrosis-4, and APRI scores were, respectively, 5 points (Child Class A - least severe liver disease); 1,99 (undetermined), and 1,11 (significant fibrosis most likely, cirrhosis undetermined). Abdominal ultrasound exam of April 8th, 2022, indicates chronic liver disease with signs of portal hypertension, splenomegaly, and moderate ascites. Electroneuromyography of March 14th, 2022, was absent abnormalities. During outpatient follow-up, a new MRI of the brain was requested on April 1st, 2022, which denoted better characterization of foci of signal alteration in cerebellar peduncles (images 2). 18 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals Neurological Wilson Disease in a Young Brazilian Adult: A Case Report
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