A Rare Case of Saudi Girl with Recurrent Strokes and Abnormal Multiple Thrombophilia

Abstract

Recurrent multiple symptomatic strokes are infrequent in paediatric population. The causes for such events are usually cardiac, multiple inherited thrombophilia; such as Protein C, Protein S, Antithrombin III, and Antiphospholipid Syndrome, and other causes. We report a case of Saudi Girl who presented in December 12, 2017 with right sided Hemiparesis. Central Nervous System (CNS) imaging revealed left sided ischemic infarction. Investigations showed that in fact she has multiple inherited thrombophilia risk factors. She was found to have homozygous mutations in Prothrombin 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 was also found to have high Lipoprotein A levels (656 mg/L) which is also a known risk factor for arterial ischemia specifically. We concluded that having multiple inherited Thrombophilia mutations can result in increased risk of severe and symptomatic Ischemic infarctions in children.

Three-factorial genetic thrombophilia with recurrent thrombotic events in a Saudi patient: A case report

“…[ 20 ] In children, although the risk of stroke has been independently associated with the homozygous MTHFR mutations alone, recurrent stroke as well as a combination of three inherited mutations (PT G20210A, MTHFR and plasminogen activator inhibitor-1) has been recently reported in a Saudi child. [ 16 ] Likewise, the frequency of combined FVL and FII G20210A mutations was remarkably increased among Saudi neonates with stroke compared with healthy control adults with no history of thromboembolic events (odds ratio: 12.44, 95% confidence interval: 1.56–99.24). [ 21 ] These particular clinical pictures of recurrent miscarriage and pediatric stroke are to be added to the morbidity of multifactorial hereditary thrombophilia and should systematically raise suspicion of such conditions.…”