Neonatal Med.  2016 Nov;23(4):233-237. 10.5385/nm.2016.23.4.233.

Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation

• Lim MS
• Shin JE
• Lee SM
• Eun HS
• Park MS
• Park KI
• Namgung R
• Lee KA
• Lee JS

• KMID: 2360464
• DOI: http://doi.org/10.5385/nm.2016.23.4.233

Abstract

Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromosome 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 5-day-old 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℃ 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 revealed 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 frameshift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, respectively. The patient recovered from purpura after undergoing ventriculoperitoneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC concentrate. 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.

Keyword

Protein C deficiency; Fulminans purpura; Genetic testing; PROC gene

MeSH Terms

Birth Weight
Blood Cell Count
Brain
Cerebral Hemorrhage
Diagnosis*
Fathers
Female
Fever
Foot
Frameshift Mutation
Genetic Testing
Humans
Infant, Newborn
Magnetic Resonance Imaging
Mothers
Mutation, Missense
Plasma
Pregnancy
Protein C Deficiency*
Protein C*
Protein S
Purpura
Purpura Fulminans
Retinal Detachment
Running
Ventriculoperitoneal Shunt
Vitreous Hemorrhage
Warfarin
Protein C
Protein S
Warfarin