VERY EARLY DIAGNOSIS AND MANAGEMENT OF CONGENITAL ERYTHROPOIETIC PORPHYRIA AT BIRTH

Congenital erythropoietic porphyria (CEP) is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS) leading to an accumulation of non-physiological porphyrins. The exposure of accumulated porphyrins to sunlight causes severe photosensitivity, chronic intravascular hemolysis and, eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusion, hydroxyurea and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is HSCT. We present a child with a very early diagnosis of CEP, who became the youngest successful HSCT for CEP.