Specific Polymorphism 4G/5G Gene for PAI-1 as a Possible Cause of Cerebral Venous Thrombosis: A Case Report

Thrombosis of veins and venous sinus (CVT) is the rare cerebral vascular disorder which makes less than 1% of all strokes. Thrombosis of veins and venous sinuses is picturesquely called “мајоr neurological forger” since it is characterized by very varied clinical picture. Among the various causes of CVT, which can be of infective or non-infective nature, the congenital hyper coagulations especially stand out, diagnosis is based on highly sophisticated diagnostic tests.

We present the case of a female patient, 36 years old, who was hospitalized at the Clinic for Neurology in Clinical Center because of the diffuse headache she had for the last few days, with milder right-sided hemiparesis and one generalized tonic-clonic epileptic seizure. With nuclear magnetic resonance (MR/2D venography) the thrombosis of the upper and lower sagittal sinuses is confirmed. By appropriate laboratory tests, as well as by confirmatory immunological and genetic analyses, the impact of the most of the factors is excluded which can contribute to the occurrence of venous thrombosis. The only pathological findings which indicated the possible congenital thrombophilia as the cause of the sagittal sinus thrombosis was the determination of the specific polymorphism of the 4G/5G gene for plasminogen activator inhibitor 1.

According to our knowledge, this is the first decribed case of the possible impact of the specific polymorphism of the 4G/5G gene for plasminogen activator inhibitor of 1 on the development of cerebral venous thrombosis.