Fetal intraventricular haemorrhage in severe congenital protein C deficiency

Fetal intraventricular haemorrhage is a rare condition with heterogeneous causes. We report severe congenital protein C deficiency (SCPCD) in a neonate with a previous sibling who had a similar clinical presentation suggestive of the same disorder. The first neonate developed purpuric skin lesions, seizures and clinical features of coagulopathy shortly after birth and died in the early neonatal period; however, confirmatory laboratory or genetic testing was not available. In a subsequent pregnancy, antenatal ultrasonography at 32 weeks’ gestation demonstrated bilateral severe ventriculomegaly with echogenic intraventricular material suggestive of fetal intraventricular haemorrhage. The neonate developed purpuric lesions within hours of birth and died despite supportive management. Laboratory evaluation revealed undetectable protein C activity and genetic testing confirmed a homozygous pathogenic PROC variant. SCPCD should be considered in the differential diagnosis of unexplained fetal intraventricular or intracranial haemorrhage, particularly when associated with neonatal purpura fulminans or recurrence in siblings.