Hemolytic anemia as the first clinical presentation of Wilson disease: a pediatric case

Wilson disease is an autosomal recessive disorder of the copper`s hepatic metabolism; it results in toxicity due to accumulation of the mineral. The hemolytic anemia is present in 17% at some point of the disease, although it is a rare initial clinical presentation. Case report: 11 years old boy who presented with negative Coombs hemolytic anemia and elevation of liver enzymes. The possibility of Wilson disease was considered, which was confirmed with the finding of a Kayser-Fleischer ring in the eye exam. He also had a low ceruloplasmin level in plasma and a high urinary copper excretion. He was treated with D-penicillamine and pyridoxine.