scholarly journals Intracranial Major Artery and Venous Sinus Thrombosis in a Young Male with MTHFR Mutation and Protein S Deficiency

2021 ◽  
pp. 744-748
Author(s):  
Dhanashree Peddawad

This case represents a unique example of stroke in a young patient involving major venous sinuses as well as major artery in a span of 6 months. After evaluation, he was found to have an abnormal thrombophilia profile. In young patients with recurrent stroke, investigating for an abnormal thrombophilia profile is crucial.

2019 ◽  
Vol 40 (1) ◽  
pp. 135-136 ◽  
Author(s):  
Miyu Usui ◽  
Tadashi Ozawa ◽  
Younhee Kim ◽  
Takafumi Mashiko ◽  
Kosuke Matsuzono ◽  
...  

2019 ◽  
Vol 2019 (7) ◽  
Author(s):  
Yasuhiro Nishiyama ◽  
Masayuki Ueda ◽  
Kanako Muraga ◽  
Takahiro Ota ◽  
Hiroshi Horikawa ◽  
...  

Abstract Here, we report the case of a 27-year-old woman with tuberous sclerosis complex who underwent successful endovascular intervention for cerebral venous thrombosis at the superior sagittal sinus. She had protein S deficiency and a long-term history of anemia caused by menorrhagia from uterine fibroids, possibly leading to a hypercoagulable state. Cerebral venous sinus thrombosis accounts for ~0.5–1% of all strokes. Several cases of venous thrombosis in patients with tuberous sclerosis complex and protein S or protein C deficiency have been reported, but further studies are needed to identify whether an association of this rare combination may be explained.


1988 ◽  
Vol 59 (01) ◽  
pp. 018-022 ◽  
Author(s):  
C L Gladson ◽  
I Scharrer ◽  
V Hach ◽  
K H Beck ◽  
J H Griffin

SummaryThe frequency of heterozygous protein C and protein S deficiency, detected by measuring total plasma antigen, in a group (n = 141) of young unrelated patients (<45 years old) with venous thrombotic disease was studied and compared to that of antithrombin III, fibrinogen, and plasminogen deficiencies. Among 91 patients not receiving oral anticoagulants, six had low protein S antigen levels and one had a low protein C antigen level. Among 50 patients receiving oral anticoagulant therapy, abnormally low ratios of protein S or C to other vitamin K-dependent factors were presented by one patient for protein S and five for protein C. Thus, heterozygous Type I protein S deficiency appeared in seven of 141 patients (5%) and heterozygous Type I protein C deficiency in six of 141 patients (4%). Eleven of thirteen deficient patients had recurrent venous thrombosis. In this group of 141 patients, 1% had an identifiable fibrinogen abnormality, 2% a plasminogen abnormality, and 3% an antithrombin III deficiency. Thus, among the known plasma protein deficiencies associated with venous thrombosis, protein S and protein C. deficiencies (9%) emerge as the leading identifiable associated abnormalities.


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