Hereditary protein C deficiency in a Saudi neonate with bilateral adrenal gland haemorrhages: A rare case report

Abstract

Abstract This case report describes a full-term 4-day-old Saudi new-born girl diagnosed with hereditary protein C deficiency, who presented with bilateral adrenal gland haemorrhages, intracranial haemorrhage and purpura fulminans. She was born to a consanguineous couple after an unremarkable pregnancy involving a primigravida mother. Her parents were asymptomatic for protein C deficiency. During treatment, her adrenal haemorrhage resolved, but she developed hydrocephalus complicated by cerebral palsy that was initially treated with regular fresh frozen plasma (FFP) and later by low-molecular-weight heparin prophylaxis. Association of protein C deficiency and adrenal haemorrhage in neonates has not been reported previously, and this appears to be the first such case report of its type. Although protein C deficiency may be acquired, the case under consideration proved to be a homozygous hereditary defect. Further genetic studies are required to identify the aetiology of this rare association.