J Clin Neurol.  2006 Jun;2(2):137-140. 10.3988/jcn.2006.2.2.137.

Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote

• Lee JY
• Kim M

• KMID: 1700747
• DOI: http://doi.org/10.3988/jcn.2006.2.2.137

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.

Keyword

Livedo reticularis; Methylene tetrahydrofolate reductase; Cerebral venous thrombosis

MeSH Terms

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*
Folic Acid
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases

Figure

• 

  Figure 1 A mottled, net-lke purplish discolorations of both legs suggesting livedo reticularis, which aggravated with cold temperature, but did not disappear after warming-up or elevation of limbs.

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  Figure 2 MR images of the patient. Diffusion MRI (A) and ADC map (B) showed vasogenic and cytotoxic edemas on the right frontoparietal lobes which were hemorrhagic infarctions with surrounding edema (C). Brain venography showed filling defects in the superior sagittal sinus, suggesting thrombosis (D).

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