Treatment of congenital erythropoietic porphyria in children by allogeneicstem cell transplantation: a case report and review of the literature

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive dis order of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme resu lts in an accumulation of high amounts of uroporphyrin I in all tissues lea ding to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exqu isite photosensitivity and mutilating skin lesions. We describe the case of a 23-month-old boy who was cured of his CEP by a matched-sibling allogenei c bone marrow transplant, and review the published clinical experience rega rding transplantation in this disease. He is alive and disease-free 15 mont hs post transplant. All of his disease manifestations except for the erythr odontia have resolved. His UIIIC level and stool and erythrocyte porphyrin metabolites have almost completely corrected. He is the sixth child reporte d to be cured of this disease by stem cell transplantation, five cases bein g long-term survivors. If patients with this disease have an HLA-matched si bling, then stem cell transplantation should be strongly considered because this is currently the only known curative therapy.