A Novel Missense Variant c.125G>A on Exon 3- Presenting as Neonatal Purpura Fulminans with Persisting Fetal Vasculature
Neonatal purpura fulminans due to severe congenital protein C deficiency is a rare autosomal recessive disorder which can be fatal if untreated. Here, we discuss a case report of a 10-month-old male child, born via 3rd degree consanguineous marriage, with a history of tractional retinal detachment a...
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| Main Authors: | , , |
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| Format: | Book |
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Galenos Yayinevi,
2023-12-01T00:00:00Z.
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| Summary: | Neonatal purpura fulminans due to severe congenital protein C deficiency is a rare autosomal recessive disorder which can be fatal if untreated. Here, we discuss a case report of a 10-month-old male child, born via 3rd degree consanguineous marriage, with a history of tractional retinal detachment and persistent fetal vasculature (PFV) now presenting with neonatal purpura fulminans and DIC who was managed with fresh frozen plasma (FFP) and Low Molecular Weight Heparin (LMWH). Genetic evaluation identified a novel PROC mutation c.125G>A(p.Arg42His). This report also emphasizes the significance of molecular analysis in genetic counselling and prenatal diagnosis. |
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| Item Description: | 2147-9445 2587-2478 10.4274/jpr.galenos.2023.68466 |