Severe Neonatal Congenital Erythropoietic Porphyria

Abstract

Congenital erythropoietic porphyria is a rare form of porphyria, presenting during the neonatal period or during infancy. Clinical features include photosensitive blistering and severe anemia. Wood's lamp fluorescence of the diaper is a useful screening test. We describe a severely affected neonate with systemic involvement due to a homozygous mutation. Because of ongoing severe hemolytic anemia and severe photosensitivity, bone-marrow transplantation was performed, but the patient ultimately succumbed to chemotherapy-induced lung damage, as well as severe pulmonary hypertension, likely due to his chronic hemolytic anemia.