Abstract
Study design:
A case report.
Objective:
To present two cases of spinal cord infarction (SCI) in carriers of the C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism.
Setting:
Physical Medicine and Rehabilitation Department, Section for Rehabilitation and Traumatology, Hospital Virgen de las Nieves, Granada, Spain.
Methods:
Two cases are presented, one with SCI at the C7 level American Spinal Injury Association (ASIA) A and one at the C5 level (ASIA A). One patient presented an acute onset of tetraplegia and the other a centromedular syndrome. In both cases the patients were carriers of the MTHFR polymorphism, which is a unique risk factor.
Results:
Increased blood levels of homocysteine related to mutation of the MTHFR gene increase the risk of a thrombotic episode, triggering the development of SCI. These two cases increase the limited number reported in the recent literature regarding MTHFR polymorphism carriers suffering from thrombotic SCI.
Conclusion:
MTHFR mutation can be considered a risk factor for thrombotic SCI, but it is not the sole risk factor. We propose that a consensus regarding the inclusion of anticoagulation treatment after confirmation of the diagnosis in these patients is needed.
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Tejero-Fernández, V., Fernández-Rodríguez, I., Membrilla-Mesa, M. et al. Spinal cord infarction in carriers of methylenetetrahydrofolate reductase-polymorphism-like unique risk factor: report of two cases. Spinal Cord 52 (Suppl 3), S8–S10 (2014). https://doi.org/10.1038/sc.2014.129
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DOI: https://doi.org/10.1038/sc.2014.129
