A Rare Case of Saudi Girl with Recurrent Strokes and Abnormal Multiple Thrombophilia
Journal Title: Journal of Blood Disorders & Transfusion - Year 2018, Vol 9, Issue 3
Abstract
Recurrent multiple symptomatic strokes are infrequent in paediatric population. The causes for such events areusually cardiac, multiple inherited thrombophilia; such as Protein C, Protein S, Antithrombin III, and AntiphospholipidSyndrome, and other causes. We report a case of Saudi Girl who presented in December 12, 2017 with right sidedHemiparesis. Central Nervous System (CNS) imaging revealed left sided ischemic infarction. Investigations showedthat in fact she has multiple inherited thrombophilia risk factors. She was found to have homozygous mutations inProthrombin Gene Complex FII (G20210A), a mutation in the gene encoding Plasminogen Activator Inhibitor-1.Heterozygous mutations in 2 Methylene Tetrahydrofolate Reductase (MTHFR): c.677C>T and c.1298A > c. She wasalso found to have high Lipoprotein A levels (656 mg/L) which is also a known risk factor for arterial ischemiaspecifically. We concluded that having multiple inherited Thrombophilia mutations can result in increased risk ofsevere and symptomatic Ischemic infarctions in children
Authors and Affiliations
Ibrahim Alharbi, Wijdan Al Zamzami, Elham Alharbi
Keywords
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- EP ID EP582780
- DOI 10.4172/2155-9864.1000404
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