title: Fatal spontaneous thrombosis of a cerebral arteriovenous malformation in a young patient with a rare heterozygous prothrombin gene mutation. Case report.
abstract: The authors report a case of fatal stroke due to thrombosis of a cerebral arteriovenous malformation (AVM) in a young patient. The patient presented with a progressive severe headache that had lasted for a few days, followed by a rapid deterioration in the level of consciousness. Computed tomography and magnetic resonance imaging were immediately performed, and the images showed a large area of venous ischemia in the left hemisphere as well as a left temporal pial AVM. An emergency decompressive craniectomy was unsuccessful in preventing deterioration in the patient's condition. An autopsy examination revealed a thrombosed AVM leading to a wide area of venous ischemia and massive brain swelling. Thrombophilia investigations identified a heterozygous mutation at position 20209 of the prothrombin gene, a recently reported rare prothrombotic defect. Acute neurological decline after spontaneous thrombosis of an intracranial AVM is rare, and an association with the prothrombin defect in this patient is likely.
authors.affiliation: Department of Neurosurgery, Royal Hallamshire Hospital, Sheffield, United Kingdom.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Taha
authors.forename: Umang
authors.initials: U
authors.lastname: Patel
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Wharton
authors.forename: Peter C
authors.initials: PC
authors.lastname: Cooper
authors.forename: Michael
authors.initials: M
authors.lastname: Makris
mesh_terms: D000293:Adolescent; D002545:Brain Ischemia / Q000209:etiology; D003596:Cytosine; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006261:Headache / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000150:complications*; D020767:Intracranial Thrombosis / Q000150:complications*; D009154:Mutation / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D020521:Stroke / Q000209:etiology*; D019851:Thrombophilia / Q000235:genetics; D013941:Thymine
chemical_list: D003596:Cytosine; D011516:Prothrombin; D013941:Thymine