title: Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma.
abstract: Congenital erythropoietic porphyria (CEP, Günther's disease) has a very variable phenotype. In the more severely affected, bone marrow transplantation (BMT) is potentially curative, but is not without risks. We describe a 7-year-old girl with CEP characterized by severe photosensitivity but only mild anaemia, in whom the difficult decision to proceed with allogeneic BMT was made after discussion in a multidisciplinary team. She has shown successful engraftment, accompanied by biochemical and clinical resolution of her metabolic disease. She remains well 3 years later, the oldest patient with CEP receiving BMT to survive beyond 12 months. However, she has experienced significant morbidity including florid cutaneous graft-versus-host disease with postinflammatory hypopigmentation. Her case is important in highlighting the delay in diagnosis not uncommon in this condition and the complex decision-making process involved in proceeding with BMT.
authors.affiliation: Department of Haematology, Birmingham Children's Hospital, Birmingham, UK. saleemtaibjee@blueyonder.co.uk
authors.forename: S M
authors.initials: SM
authors.lastname: Taibjee
authors.forename: O E
authors.initials: OE
authors.lastname: Stevenson
authors.forename: A
authors.initials: A
authors.lastname: Abdullah
authors.forename: C Y
authors.initials: CY
authors.lastname: Tan
authors.forename: P
authors.initials: P
authors.lastname: Darbyshire
authors.forename: C
authors.initials: C
authors.lastname: Moss
authors.forename: H
authors.initials: H
authors.lastname: Goodyear
authors.forename: A
authors.initials: A
authors.lastname: Heagerty
authors.forename: S
authors.initials: S
authors.lastname: Whatley
authors.forename: M N
authors.initials: MN
authors.lastname: Badminton
mesh_terms: D016026:Bone Marrow Transplantation / Q000009:adverse effects; D002648:Child; D005260:Female; D006086:Graft vs Host Disease / Q000209:etiology / Q000473:pathology; D006801:Humans; D017496:Hypopigmentation / Q000209:etiology / Q000473:pathology; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000473:pathology / Q000628:therapy*