Wilson Disease with Hepatic Impairment and Thrombocytopenia: A Case Report

Abstract

Introduction: Wilson disease is a rare autosomal recessive disorder. The Case report describes the penicillamine induced thrombocytopenia. Case Report:A 14-year-old girl presented with previously diagnosed with Wilson disease treated with penicillamine and pyridoxine. Complaints of dyskinesia, slurred speech, severe hyperbilirubinemia and prominent extrapyramidal features consisting of the rigidity, tremors and ophthalmic examination of her eyes reveal the Kayser-Fleischer ring and sunflower cataract and low blood count.Conclusion: Wilson disease is a rare inherited disorder. Approximately 30% of the patient cannot tolerate penicillamine due to early hypersensitivity or bone marrow suppression or renal failure occurs due to the failure of therapy. Hence zinc is considered an alternative therapy for pediatric patients.

Keywords: Wilson disease; Thrombocytopenia; Hepatic impairment; Penicillamine; Zinc