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Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation

Ziad M Kanaan1, Rami Mahfouz, Ali Taher

  • 1Department of Internal Medicine, Faculty of Medicine, Wayne State University, Detroit, Michigan, USA. zkanaan@med.wayne.edu

Genetic Testing
|August 1, 2008
PubMed

We describe the case of a previously healthy young man who presented with headache, diplopia, nausea, vomiting, and bilateral papilledema. Magnetic resonance venography of the brain revealed thrombosis of the right transverse sinus. Blood tests showed elevated homocysteine levels, and coagulation studies revealed a homozygous C677T mutation and a heterozygous A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. The patient had no other etiology for venous thrombosis. We recommend screening patients who present with sinus thrombosis for MTHFR gene mutations.

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