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MTHFR C677T and Prothrombin G20210A Mutations in a Woman from Dalmatia with Silent Brain Infarction

Nikolina Ivica ; Clinical Department of Urology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Irena Pintarić ; Clinical Department of Urology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Marina Titlić ; Clinical Department of Urology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia

Abstract

A 55-year-old, previously healthy woman, presented with frequent headaches. She had no neurological disturbances, but had a positive family history; her father died from stroke. Magnetic resonance imaging showed brain infarction; therefore detailed diagnostic evaluation of thrombophilia markers and genetic testing were performed. The patient was found to be homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene and heterozygous for the mutation of the prothrombin G20210A gene. No other cause of cerebral infarction was found in the patient.

Keywords

MTHFR C677T; Prothrombin G20210A; Stroke; Silent brain infarction; Case reports

Hrčak ID:

133343

URI

https://hrcak.srce.hr/133343

Publication date:

3.11.2014.

Article data in other languages: croatian

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