Abstract
Factor XI (FXI) is a haemostatic plasma glycoprotein which circulates as a serine protease zymogen of activated FXI. We present an example of a patient with severe FXI deficiency who is not protected against thrombosis and developed a spontaneous ischaemic stroke at a very early age. Our case adds to the small number of patients who spontaneously developed cerebral venous thrombosis despite being homozygous for a severe FXI deficiency mutation.
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