title: Fatal dural sinus thrombosis associated with heterozygous factor V Leiden and a short activated partial thromboplastin time.
abstract: Inherited thrombophilia is a risk factor for dural sinus thrombosis (DST). To our knowledge, this is the first description with autopsy findings of a patient with DST associated with heterozygous factor V Leiden and a short activated partial thromboplastin time (aPTT). A 51-year-old woman presented with a 3-day history of headache, nausea, right-sided weakness, and focal motor seizure; she died 3 days after admission. At autopsy, a gross examination showed hemorrhage of bilateral parietal lobes and left primary motor cortex, uncal and tonsillar herniation, and pulmonary embolus of the right upper lobe. A microscopic examination of the brain showed an organizing thrombus in the superior sagittal sinus, diffuse cerebral edema, and extensive venous congestion. Laboratory studies showed heterozygous factor V Leiden by polymerase chain reaction and a very short aPTT of 17 seconds (reference range, 22-30 seconds). The combination of a heterozygous factor V Leiden mutation and a short aPTT may have contributed to the fatal DST in this patient.
authors.affiliation: Department of Pathology, University of Kansas Medical Center, Kansas City, Kan 66160, USA.
authors.forename: Christina L
authors.initials: CL
authors.lastname: Stephan
authors.forename: Karen
authors.initials: K
authors.lastname: SantaCruz
authors.forename: Corrie
authors.initials: C
authors.lastname: May
authors.forename: Steve B
authors.initials: SB
authors.lastname: Wilkinson
authors.forename: Mark T
authors.initials: MT
authors.lastname: Cunningham
mesh_terms: D005165:Factor V / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D010314:Partial Thromboplastin Time; D012851:Sinus Thrombosis, Intracranial / Q000175:diagnosis* / Q000473:pathology
chemical_list: C095381:factor V Leiden; D005165:Factor V