Key result
Novel PROS1 mutation linked to fulminant paradoxical cerebral infarction via type I protein S deficiency.
Why the study?
Protein S Ala525Val substitution as a cause of thrombophilia and fulminant bilateral cerebral infarction due to paradoxical embolism was not previously reported.
Case Report (n=1)
Alerts clinicians to PROS1 sequencing in select young stroke cases with protein S deficiency; leaves open validation and prevalence.
We report a 42‐year‐old woman who developed sudden fulminant cerebral infarction in the bilateral middle cerebral artery territories, causing status epilepticus and a decreased level of consciousness. Investigation showed thrombus in the right soleus vein and a patent foramen ovale, but no obvious embolic source, such as atrial fibrillation or a carotid or cerebral artery atherosclerotic lesion. Blood coagulation tests showed decreased levels of free protein S (25%) and total protein S (52%), and decreased protein S activity (15%). The patient was diagnosed with cerebral infarction as a result of paradoxical embolism, and type I protein S deficiency. DNA sequencing identified a novel point mutation in the PROS1 gene, leading to the amino acid substitution, Ala525Val. It should be noted that this protein S mutation can cause thrombophilia and cerebral infarction.
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Yoshikawa et al. (2014) conducted a case report in Fulminant bilateral cerebral infarction, paradoxical embolism, protein S deficiency (n=1). PROS1 gene mutation (Ala525Val) was evaluated. A novel PROS1 gene mutation (Ala525Val) causing type I protein S deficiency was identified in a 42-year-old woman who developed fulminant bilateral cerebral infarction due to paradoxical embolism.
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