Pearson syndrome as a rare cause of liver dysfunction and malabsorption

Abstract

Pearson syndrome is a progressive multisystem disorder with sideroblastic anemia as its main feature. It is caused by single, large-scale deletions of the mitochondrial DNA. Most patients present in infancy with severe transfusion-dependent anemia and failure to thrive. Here, we describe a three-year-old girl with presumed liver failure during adenovirus gastroenteritis. The diagnosis of Pearson syndrome was suspected based on the co-occurrence of liver dysfunction, exocrine pancreatic insufficiency, megaloblastic anemia and lactic acidosis.

This case report aims to increase general awareness for rare disorders, like Pearson syndrome, in the differential diagnosis of pediatric malabsorption and liver dysfunction.