A CASE OF FATAL CEREBRAL VENOUS THROMBOSIS IN FAMILIAL MEDITERRANEAN FEVER

초록

Familial Mediterranean fever is a rare genetic autoinflammatory disease with recurrent fever and inflammation. Various neurological manifestations have been reported in the literature, but cerebral venous thrombosis has never been described. A 23 year-old male patient visited our emergency department on August 27, 2013, with the chief complaint of right arm weakness. He had many previous episodes of recurrent fever and arthralgia since childhood, and had been diagnosed as familial Mediterranean fever with MEFV gene identification. One year ago, he experienced portal vein thrombosis, which was improved with anticoagulation. Initial brain CT revealed bilateral multiple intracranial hemorrhages along the superior sagittal sinus, more severe in left. Severe thrombocytopenia was also noticed, probably due to the splenomegaly which was previously diagnosed. Under the impression of superior sagittal sinus thrombosis, MR and catheter venography was performed, which showed complete obliteration of superior sagittal sinus. Intravenous anticoagulation with high dose heparin soon started, but activated partial thromboplastin time was not promptly prolonged, and his status rapidly progressed with brain swelling despite intracranial pressure lowering treatment. Seizure followed and more intracranial hemorrhages developed in follow-up brain CT. He was sentenced to brain death after 3 days, and expired one week later. This familial Mediterranean fever patient was characterized with recurrent thrombotic spell, one of which resulted in fatal cerebral venous thrombosis, which we describe first time.