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CASE REPORT
Year : 2017  |  Volume : 6  |  Issue : 2  |  Page : 116-120

Congenital protein C deficiency with renal vein thrombosis and central retinal venous occlusion in a term neonate due to novel mutation in the PROC gene


1 Department of Neonatology, Hamad Medical Corporation, Doha, Qatar
2 Department of Neonatology, Hamad Medical Corporation; Department of Pediatrics, Weill Cornell Medical College, Doha, Qatar
3 Department of Pediatrics, Weill Cornell Medical College; Department of Pediatric Nephrology, Hamad Medical Corporation, Doha, Qatar
4 Department of Pediatric Hematology, Hamad Medical Corporation, Doha, Qatar
5 Department of Pediatrics, Weill Cornell Medical College; Department of Pediatric Opthalmology, Hamad Medical Corporation, Doha, Qatar

Correspondence Address:
Hussain Parappil
Department of Neonatology, Hamad Medical Corporation, Doha
Qatar
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_111_16

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Severe protein C (PC) deficiency is a rare disorder caused by homozygous or compound heterozygous genetic anomalies. PC deficiency is inherited as autosomal dominant, and most patients are heterozygous for a genetic defect. Homozygous or compound heterozygous for a mutation or other genetic defect affecting PC is typically due to inheritance of an abnormal allele from both parents. In the neonatal period, homozygous PC deficiency is usually associated with the development of severe, and often fatal, purpura fulminans and disseminated intravascular coagulation and if untreated is incompatible with life. Here, we report a case of congenital PC deficiency due to novel homozygous mutation in the protein coding gene (PROC) in a term neonate which presented with severe purpura fulminans, perinatal right renal vein thrombosis (RVT), bilateral adrenal hemorrhage, and early neonatal central retinal venous occlusion with retinal detachment. Perinatal RVT and early neonatal central retinal vein occlusion have not been reported previously in the literature.


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