Fatal spontaneous thrombosis of a cerebral arteriovenous malformation in a young patient with a rare heterozygous prothrombin gene mutation. Case report.
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.
Taha
Mahmoud
M
Department of Neurosurgery, Royal Hallamshire Hospital, Sheffield, United Kingdom.
Patel
Umang
U
Wharton
Stephen B
SB
Cooper
Peter C
PC
Makris
Michael
M
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
D003596:Cytosine; D011516:Prothrombin; D013941:Thymine