Neonatal Purpura Fulminans Due to Homozygous Protein C Deficiency

Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromo some 2q14.3. Patients with PROC deficiency typically present distinguished purpura, intracerebral and intravascular coagulopathy, and ophthalmologic complications. Here, we report a rare severe form of PROC deficiency resulting from a compound heterozygosity in PROC. The patient was a 5dayold female neonate born at 39 weeks of gestation with a birth weight of 2,960 g. She was transferred to our hospital with running a fever at 38.5°C and with dark red patches on her feet. At admission, a complete blood count showed no specific findings, but levels of PROC and protein S were abnormally low (1% and 68%, respectively). Magnetic resonance imaging re vealed intracerebral hemorrhaging and parenchymal damage with dysplasia of the brain. Ophthalmologic examination revealed vitreous hemorrhaging with retinal detachment. Genetic testing revealed a missense mutation (Arg211Trp) and a frame shift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, res pectively. The patient recovered from purpura after undergoing ventriculoperi toneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC con cen trate. This is the first report of severe neonatal PROC deficiency with purpura fulminans, vitreous hemorrhage, and intracerebral hemorrhage confirmed via PROC genetic testing, which identified a rare compound heterozygosity of PROC.

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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of RarePROCGene Mutation

Lim

Shin

Lee

et al. 2016

Neonatal Med

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Neonatal Purpura Fulminans Due to Homozygous Protein C Deficiency

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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of RarePROCGene Mutation

Diagnosis of Severe Protein C Deficiency Confirmed by Presence of RarePROCGene Mutation

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