A rare cause of thrombophilia in children: the MTHFR mutation

Abstract

The association between hyperhomocysteinemia and thromboembolic events is currently widely discussed. The most common hereditary abnormality is the MTHFR mutation. We report a 3-year-old girl admitted for altered state of consciousness. A cerebral CT angiogram revealed bilateral venous thrombosis. Thrombophilia workup showed a heterozygous C677T mutation in the MTHFR gene. The patient was put on anticoagulant treatment with good clinical outcome. Hyperhomocysteinemia is an emerging risk factor for thromboembolic lesions in children. If a patient presents with a thromboembolic condition, looking for a MTHFR mutation is mandatory.