Abstract
The association of idiopathic purpura fulminans (PF) and venous thrombosis (VT) seldom reveals constitutional thrombophilia in an infant. We report a case of PF in an 18-month-old infant. Laboratory tests showed disseminated intravascular coagulation (DIVC) with normal rates of C and S proteins and antithrombin. The echo-Doppler examination conveyed venous thrombosis of the lower limbs, while the genetic study showed heterozygous mutation of Factor II (G 20210A). Precocious and multidisciplinary management included frozen fresh plasma supplementation and necrosectomy with skin grafts. The diagnosis and therapeutic problems posed by PF combined with deep venous thrombosis are discussed.
Copyright © 2013. Published by Elsevier SAS.
MeSH terms
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Alleles
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Cooperative Behavior
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DNA Mutational Analysis
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Disseminated Intravascular Coagulation / blood
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Disseminated Intravascular Coagulation / diagnosis
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Disseminated Intravascular Coagulation / genetics
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Disseminated Intravascular Coagulation / therapy
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Female
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Follow-Up Studies
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France
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Genetic Carrier Screening
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Humans
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Infant
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Interdisciplinary Communication
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Methylenetetrahydrofolate Reductase (NADPH2) / genetics
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Necrosis
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Prothrombin / genetics
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Purpura Fulminans / blood
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Purpura Fulminans / diagnosis*
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Purpura Fulminans / genetics*
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Purpura Fulminans / therapy
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Skin / pathology
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Thrombophilia / blood
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Thrombophilia / diagnosis*
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Thrombophilia / genetics*
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Ultrasonography, Doppler
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Venous Thrombosis / blood
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Venous Thrombosis / diagnosis*
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Venous Thrombosis / genetics*
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Venous Thrombosis / therapy
Substances
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Prothrombin
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MTHFR protein, human
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Methylenetetrahydrofolate Reductase (NADPH2)
Supplementary concepts
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Thrombophilia, hereditary