TY - JOUR
T1 - Recurrent cerebral venous thrombosis associated with heterozygote methylenetetrahydrofolate reductase C677T mutation and sickle cell trait without homocysteinemia
T2 - An autopsy case report and review of literature
AU - Ali, Z.
AU - Troncoso, J. C.
AU - Fowler, D. R.
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Elevated blood homocysteine concentration and certain genetic mutations have been associated with increased risk for developing arterial and venous thrombosis. A common mutation of methylenetetrahydrofolate reductase, MTHFR C677T, has been associated with elevated homocysteine concentration and increased risk for developing thrombosis in homozygote carriers. Heterozygote carriers for this gene mutation, if associated with other major or minor risk factors for thrombophilia, appear to be prone to develop thrombosis. A postmortem genetic testing for common mutations resulting in thrombophilia should be performed in all individuals who die as a result of thrombosis, regardless of predisposing risk factors, to determine the true prevalence ofmutations in these individuals, and to assess the true role of a certain mutation, such as heterozygote MTHFR C677T, in the pathogenesis of thrombosis. Postmortem genetic testing for common mutations associated with thrombophilia in selected cases has potentially life-saving importance to surviving family members. We report a case of recurrent cerebral venous thrombosis in a 19 year old male with history of sickle cell trait, obesity, and high normal blood homocysteine, who was heterozygote for MTHFR C677T mutation.
AB - Elevated blood homocysteine concentration and certain genetic mutations have been associated with increased risk for developing arterial and venous thrombosis. A common mutation of methylenetetrahydrofolate reductase, MTHFR C677T, has been associated with elevated homocysteine concentration and increased risk for developing thrombosis in homozygote carriers. Heterozygote carriers for this gene mutation, if associated with other major or minor risk factors for thrombophilia, appear to be prone to develop thrombosis. A postmortem genetic testing for common mutations resulting in thrombophilia should be performed in all individuals who die as a result of thrombosis, regardless of predisposing risk factors, to determine the true prevalence ofmutations in these individuals, and to assess the true role of a certain mutation, such as heterozygote MTHFR C677T, in the pathogenesis of thrombosis. Postmortem genetic testing for common mutations associated with thrombophilia in selected cases has potentially life-saving importance to surviving family members. We report a case of recurrent cerebral venous thrombosis in a 19 year old male with history of sickle cell trait, obesity, and high normal blood homocysteine, who was heterozygote for MTHFR C677T mutation.
KW - Homocysteine
KW - MTHFR CT
KW - Meningeal vessel thrombosis
KW - Obesity
KW - Sagittal sinus thrombosis
KW - Sickle cell trait
UR - http://www.scopus.com/inward/record.url?scp=84944677376&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84944677376&partnerID=8YFLogxK
U2 - 10.1016/j.forsciint.2014.07.007
DO - 10.1016/j.forsciint.2014.07.007
M3 - Article
C2 - 25074331
AN - SCOPUS:84944677376
SN - 0379-0738
VL - 242
SP - e52-e55
JO - Forensic Science International
JF - Forensic Science International
ER -