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

被引：5
作者：
Kanaan, Ziad M. [1 ]
Mahfouz, Rami [2 ]
Taher, Ali [3 ]
Sawaya, Raja A. [3 ]
机构：
[1] Wayne State Univ, Dept Internal Med, Fac Med, Detroit, MI 48202 USA
[2] Amer Univ Beirut, Fac Med, Dept Pathol & Lab Med, Beirut, Lebanon
[3] Amer Univ Beirut, Fac Med, Dept Internal Med, Beirut, Lebanon
来源：
GENETIC TESTING | 2008年 / 12卷 / 03期
关键词：
D O I：
10.1089/gte.2007.0125
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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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收藏
页码：363 / 365
页数：3
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