Abstract Number: PO154
Meeting: ISTH 2021 Congress
Background: The usually asymptomatic heterozygous FV Leiden mutaion is often diagnosed in adulthood where it is responsible of thromboembolic disease, especially when aassociated whith other contributing risk factors. We propose to report the case of a 22 month-old carrying this mutation who presented spontaneous multiple cerebral venous thrombosis.
Aims: Highlight the very heterozygous clinical expression of FVL which depends on many known or unknown risck factors.
Results: We report a clinical case of a 22-month-old girl referred to the laboratory for thrombophilia screening. In personal history, the patient was born premature at 33 weeks of amenorrhea, the onset of the disease was marked by an infectious syndrom whith diarrhea complicated by dehydration followed by neurological symptoms (drowsiness and walking disorders). Brain MRI showed massive venous thrombosis of the cortical veins, the sagittal sinus and the trocular of the right sinus. In family history, there aren’t any venous or arterial thromboembolic disease, however, the mother presented 8 early abortions. screening for thrombophilia showed on the one hand, normal levels of plasma inhibitors, AT, PC, PS. The screening of antiphospholipid antibodies and lupus anticoagulants was negative. on the other hand, the sreening of the APCR was positif by phenotypic test confirmed by SSP-PCR (heterozygous FVL).the screening of the G20210A mutation of FII was negative.
Family investigation found the same mutation in her mother, the father and the two brothers were normal.
Conclusions: This is an unusual observation, the patient was treated by oral anticoagulant VKA.The follow up during 4 years was favorable without any recurrence.
There is an interest in making wider screening of thrombophilia to detect possible associations.
To cite this abstract in AMA style:Larfi Y, Ait Hamouda N, Agha M, Dahlouk D. Heterozygous FV Leiden Mutation Associated with Multiple Cerebral Venous Thrombosis in Childhood. A Case Report [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/heterozygous-fv-leiden-mutation-associated-with-multiple-cerebral-venous-thrombosis-in-childhood-a-case-report/. Accessed November 29, 2021.
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