Severe fetal ischaemic brain injury caused by homozygous protein C deficiency

Abstract

What's already known about this topic? Homozygous protein C deficiency classically presents in newborns with purpura fulminans, ophthalmic complications and thrombotic stroke. Diagnosis enables accurate recurrence risk counselling and has implications for future pregnancies. What does this study add? Homozygous protein C deficiency can present antenatally with ventriculomegaly secondary to thrombosis. The diagnosis should be considered in this setting, even in the absence of consanguinity. Analysis of regions of homozygosity identified by single nucleotide polymorphism microarray can guide diagnostic testing for rare recessive conditions.