V Tejero-Fernández1, I Fernández-Rodríguez1, M D Membrilla-Mesa1, M Arroyo-Morales2. 1. Physical Medicine and Rehabilitation Department, Section Rehabilitation and Traumatology, Hospital Virgen de las Nieves, Granada, Spain. 2. Physical Therapy Department, Instituto Investigación Biosanitaria (IBIS), University of Granada, Granada, Spain.
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.
STUDY DESIGN: A case report. OBJECTIVE: To present two cases of spinal cord infarction (SCI) in carriers of the C677Tmethylenetetrahydrofolate 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.