Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5680220 | Journal of Taibah University Medical Sciences | 2016 | 4 Pages |
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.
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Authors
Zakaria M. MD, Amal A. MBBS, Moeen MD, Mohamed E. MD,