Journal of Clinical Case Reports

Department of Pharmacology, College of Medicine and Health Sciences, University of Gondar, Northwest, Ethiopia

Publications

• Case Report   
  Wilson?s Disease: An Auto Immune Regenerative Disorder and its Diagnosis by Diagnostic Scoring System
  Author(s): Abilo Tadesse*
  
  Background: Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings and/or ATP7B genetic testing are required to diagnose Wilson’s disease. Case presentation: 25-year-old and 22-year-old young women (siblings) presented to University of Gondar hospital, Northwest Ethiopia, with difficulty of keeping balance of 3 years duration and progressive extremity weakness of 5 years duration respectively. Both siblings had visible ocular Kayser-Fleischer rings, low serum ceruloplasmin level and increased urinary copper content, ultrasoundevidenced cirrhotic liver disease and axial T2- weighted MRI hyperintensities in both basal ganglia and brainstem (mid brain and pons). Diagnosis of Wilson’s disease was established in both patien.. Read More»
  DOI: 4172/2165-7920JCCR.2024.14.160

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