. 2023; 10(4): 294-296 | |||
A novel missense variant c.125G>A on exon 3 – Presenting as neonatal purpura fulminans with persisting fetal vasculatureAjeesh Babu, Riaz I, Sankar HariharanDepartment Of Pediatrics, SAT Hospital, Government Medical College TrivandrumNeonatal 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 history of tractional retinal detachment and persistent fetal vasculature (PFV) now presented 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. Keywords: PROC, Purpura fulminans, Persisting fetal vasculature, newbornAjeesh Babu, Riaz I, Sankar Hariharan. A novel missense variant c.125G>A on exon 3 – Presenting as neonatal purpura fulminans with persisting fetal vasculature. . 2023; 10(4): 294-296 Corresponding Author: Sankar Hariharan, India |
|