Keywords: stroke; ischemic strokes; factor V; mutation.
This report underscores the importance of a comprehensive approach
involving various diagnostic modalities and the need for considering
genetic factors as a cause for young onset ischemic stroke as
1
INTRODUCTION
Factor V Leiden mutation is one of the important genetic risk factors
known for spontaneous thrombosis.1 Its mutation causes
activated protein C resistance.2 This mutation also
potentiates the effect of methylenetetrahydrofolate reductase (MTHFR)
causing hyperhomocysteinemia, a known risk factor for blood
clot.3 A combined mutation of both has been reported
in 0.02%.4 Although rare, it has been found to be
associated with young individuals but the combined mutation has rarely
been reported. To contribute to the understanding, we present a case of
factor-V R506Q and methylenetetrahydrofolate reductase-C677T mutation
with left lacunar thalamic infarction of a 25-year-old male who
presented with twelve-hour history of ringing sensation of right side of
his body who was managed with direct oral anti-coagulation drug which
prevented further thrombosis and significant improvement of his
symptoms.5