Homozygous methylenetetrahydrofolate reductase -a1298c mutation in a case of precursor B acute lymphoblastic leukemia

Gaurav Tripathi, Manas Kalra, Amita Mahajan


Thrombotic events are well recognized during treatment for acute lymphoblastic leukaemia. We report a case of recurrent thrombosis off asparaginase wherein thrombophilia evaluation yielded specific etiology. A 14 year old boy with precursor B cell acute lymphoblastic leukemia (ALL) (high risk) presented with generalized tonic clonic seizures on day +22 of induction. Asparaginase associated thrombotic event was suspected. MRI brain with MRV done showed right frontal lobe infarct and superior sagittal sinus thrombosis with reduced blood flow in left transverse sinus. He was managed conservatively. However, after the first dose of systemic methotrexate therapy he presented with right sided hemiparesis. In view of his recurrent episode thrombosis in the absence of asparaginase, thrombophilia workup was done which showed homozygousity for methylenetetrahydrofolate reductase (MTHFR)-a1298c mutation. MTHFR mutation is a rare cause of thrombophilia which was found in a case of precursor B cell ALL as a cause of recurrent venous thrombosis precipitated by methotrexate therapy.


ALL, MTHFR mutation, Recurrent thrombosis, Thrombophillia

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