Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency

摘要: Severe protein C-deficiency is a rare heritable thrombophilia of the newborn. Infants with biallelic PROC mutations present purpura fulminans and intracranial thromboembolism, while prenatal onset mutated heterozygotes remains unclear. We herewith first case fetal ventriculomegaly neonatal stroke associated heterozygous mutation. The infant was born to healthy mother at 38 gestational weeks. growth had been normal, but routine ultrasound screening indicated mild hydrocephalus 28 weeks gestation. He developed convulsions two days after birth. Computed tomography brain revealed multiple hemorrhagic infarctions ventriculomegaly. Dissociated levels plasma activity between C (21%) S (42%) reached determine heterozygote c.574_576delAAG, common thrombophilic predisposition in Asian ancestries. PC-mutant may have limited high risk cerebral thromboembolism during perinatal course.