A SERPINC1 Mutation in a Patient with Cerebral Venous Thrombosis and Upper-Extremity Deep Vein Thrombosis

Abstract

Cerebral venous thrombosis (CVT) in children is rare, with an incidence of 0.67 per 100,000 children, including newborns [1]. Its clinical manifestations may vary, including seizures, papilledema, headache, loss of consciousness, coma, and local neurological defects. The most com-mon manifestation in neonates is seizures, whereas headache predominates in non-neonatal age groups [2]. Hereditary thrombophilia causes 34% to 41% of CVT cases, within which antithrombin (AT) deficiency is rarely reported [3]. Here, we report a case of CVT, pulmonary thromboembolism (PTE), and upper-extremity deep vein thrombosis (DVT) associated with AT deficiency due to a novel missense mutation in SERPINC1 . A 16-year-old boy visited