Hemolytic anemia and photosensitivity in infant

Abstract

Congenital erythropoietic porphyria (CEP) is a rare inherited metabolic disease which usually manifests in early childhood with severe cutaneous photosensitivity, dark red urine and a variable degree of haematological involvement ranging from a mild hemolytic anemia to intrauterine hydrops fetalis. We report the case of a 4-month-old infant who was admitted for severe hemolytic anemia and red urines, who developed secondary severe cutaneous photosensitivity. The diagnosis of CEP was established on the basis of clinical symptoms and increased values of uroporphyrinogen and coproporphyrinogen in the plasma and urine.