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.
© 2011 Wiley Periodicals, Inc.
MeSH terms
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Anemia, Hemolytic, Congenital / diagnosis*
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Anemia, Hemolytic, Congenital / enzymology
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Anemia, Hemolytic, Congenital / genetics
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Anemia, Hemolytic, Congenital / therapy
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Bone Marrow Transplantation
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Fatal Outcome
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Homozygote
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Humans
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Hypertension, Pulmonary / enzymology
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Hypertension, Pulmonary / etiology
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Hypertension, Pulmonary / genetics
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Infant
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Lung Injury / chemically induced
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Male
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Mutation
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Photosensitivity Disorders / enzymology
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Photosensitivity Disorders / genetics
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Photosensitivity Disorders / therapy
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Porphyria, Erythropoietic / complications
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Porphyria, Erythropoietic / diagnosis*
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Porphyria, Erythropoietic / genetics
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Porphyria, Erythropoietic / therapy
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Severity of Illness Index
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Uroporphyrinogen III Synthetase / genetics
Substances
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Uroporphyrinogen III Synthetase