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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.

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