PMC4224091_01
(A) T2-weighted sagittal magnetic resonance image of the cervical and thoracic spinal cord without contrast medium showing a hyperintense lesion with swelling at C7 to T3 (arrow). (B) A follow-up spinal magnetic resonance image 3 months later showed almost complete disappearance of the original lesions.
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Cervical and thoracic spinal magnetic resonance imaging (MRI) demonstrated that the spinal cord was swollen at cervical level (C)7-T3, which was considered to represent inflammatory lesions (Figure 1A). A subsequent spinal MRI performed 3 months after symptom onset showed near resolution of the original lesion (Figure 1B).
The patient has a homozygous MTHFR gene mutation c.677C>T (p.A222V).. Note: The position is indicated with an arrow.. Abbreviation:
MTHFR, methylenetetrahydrofolate reductase.
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The results showed that the patient carried the TT genotype of the MTHFR c.677C>T gene variant and no mutation was found in rs1801131 of the MTHFR gene (Figure 2).