Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote.
- Author:
Jee Young LEE
1
;
Manho KIM
Author Information
- Publication Type:Case Report
- Keywords: Livedo reticularis; Methylene tetrahydrofolate reductase; Cerebral venous thrombosis
- MeSH: Cold Temperature; Folic Acid; Genotype; Homozygote*; Humans; Hyperhomocysteinemia; Livedo Reticularis*; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Oxidoreductases; Plasma; Risk Factors; Seizures; Skin; Superior Sagittal Sinus; Thrombosis; Venous Thrombosis*
- From:Journal of Clinical Neurology 2006;2(2):137-140
- CountryRepublic of Korea
- Language:English
- Abstract: Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous thrombosis and livedo reticularis. A 45-year-old man presented with seizures and mottled-like skin lesions, that were aggravated by cold temperature. Hemorrhagic infarct in the right frontoparietal area with superior sagittal sinus thrombosis was observed. He had hyperhomocysteinemia, low plasma folate level, and MTHFR 677TT homozygote genotype, which might be associated with livedo reticularis and increase the risk for cerebral venous thrombosis.
