Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations.
Although thrombosis is relatively rare in children, reports of young patients with thrombosis are becoming more frequent with time. Activated protein C resistance and prothrombin 20210 A mutation are results of point mutations described in the last decade. This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations. The patient diagnosed with purpura fulminans was an 8-year-old boy who was referred to our hospital with purpuric lesions on the extremities and necrosis of the penis. We believe that the coexistence of more than one thrombophilic mutation contributed to the occurrence of severe thrombosis at a young age in this patient.
Özbek
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Department of Pediatrics, Başkent University Faculty of Medicine, 6.Cadde No:72/3, 06490, Bahçelievler, Ankara, Turkey. nozbek@tr.net.
Ataç
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FB
Department of Molecular Biology, Başkent University Faculty of Medicine, Ankara, Turkey.
Verdi
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Department of Molecular Biology, Başkent University Faculty of Medicine, Ankara, Turkey.
Kayıran
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SM
Department of Pediatrics, Başkent University Faculty of Medicine, 6.Cadde No:72/3, 06490, Bahçelievler, Ankara, Turkey.
D017668:Age of Onset; D001157:Arterial Occlusive Diseases / Q000209:etiology / Q000235:genetics; D002648:Child; D005165:Factor V; D006579:Heterozygote; D006801:Humans; D011695:IgA Vasculitis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D013927:Thrombosis / Q000209:etiology / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin