Recurrent Cryptogenic Stroke in a Young Woman: Congenital Thrombotic Thrombocytopenic Purpura Unmasked

Abstract

Cryptogenic stroke of undetermined cause should warrant an exhaustive neurologic and cardiovascular workup. If no cause is identified, additional investigations should be individualized on the basis of clinical history and objective findings. Herein, we present the case of a young patient with a personal and family history of cryptogenic stroke who was investigated for thrombophilia. Transient thrombocytopenia and peripheral blood schistocytes led to an eventual diagnosis of congenital thrombotic thrombocytopenic purpura, which is characterized by vaso-occlusive end-organ complications. The diagnosis is confirmed by undetectable ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs, member 13) activity.