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

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• 作者：Zakaria M. Al Hawsawi ; MD^a ; ^{zhawsawi@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Amal A. Alhejaili ; MBBS^b ; Moeen Mohy Uddin ; MD^c ; Mohamed E. Abdelkarim ; MD^d
• 关键词：Adrenal gland haemorrhage ; Protein C deficiency ; Saudi neonate with intracranial haemorrhage
• 刊名：Journal of Taibah University Medical Sciences
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：11
• 期：5
• 页码：485-488
• 全文大小：1231 K

文摘

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.