Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma.
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.
Taibjee
S M
SM
Department of Haematology, Birmingham Children's Hospital, Birmingham, UK. saleemtaibjee@blueyonder.co.uk
Stevenson
O E
OE
Abdullah
A
A
Tan
C Y
CY
Darbyshire
P
P
Moss
C
C
Goodyear
H
H
Heagerty
A
A
Whatley
S
S
Badminton
M N
MN
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*