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

Abstract

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.

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

“…Among these treatments, protein C concentrates are the most effective, as shown in this patient; however, they are very expensive and not always available in most countries. Some patients underwent surgical interventions such as ventriculoperitoneal shunt placement due to subarachnoid and intraventricular hemorrhage [ 11 ]. Liver transplantation may be considered a curative therapy for severe congenital protein C deficiency [ 1 ].…”