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

Severe protein C-deficiency is a rare heritable thrombophilia of the newborn. Infants with biallelic PROC mutations present purpura fulminans and intracranial thromboembolism, while the prenatal onset of mutated heterozygotes remains unclear. We herewith present the first case of fetal ventriculomegaly and neonatal stroke associated with heterozygous PROC mutation. The infant was born to a healthy mother at 38 gestational weeks. The fetal growth had been normal, but the routine ultrasound screening had indicated mild hydrocephalus at 28weeks of gestation.

Source: Brain and Development - August 3, 2015 Category: Neurology Authors: Masako Ichiyama, Shouichi Ohga, Masayuki Ochiai, Kotaro Fukushima, Masataka Ishimura, Michiko Torio, Michiyo Urata, Taeko Hotta, Dongchon Kang, Toshiro Hara Tags: Case Report Source Type: research