Rinsho Shinkeigaku
Online ISSN : 1882-0654
Print ISSN : 0009-918X
ISSN-L : 0009-918X
Brief Clinical Notes
A case of recurrent cerebral vein thrombosis with protein C gene mutation identified
Yumeho SugaharaNatsuki OnoEriko MorishitaHiroshi Takashima
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2018 Volume 58 Issue 12 Pages 764-766

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Abstract

We reported a 31-year-old man with recurrent cerebral venous thrombosis caused by congenital protein C deficiency. He was diagnosed with cerebral venous thrombosis before 7 months. He was transferred to our hospital with numbness of right hand and right side of face, and dysarthria. The blood examination showed that his protein C antigen level and protein C activity were decreased than the lower limits of normal. Brain magnetic resonance venography showed poor visualization of the superior sagittal sinus and cortical veins. Genetic analysis revealed a single-base substitution (C>T) at the codon 811 (Arg to Trp) in the 9th exon portion of the protein C gene. Taking those results, he was diagnosed with recurrent cerebral venous thrombosis due to congenital protein C deficiency. Cerebral venous sinus thrombosis that occurred in the absence of an incidents of disease or internal history when there is a juvenile onset, a past history, or a family history, is suspected of congenital thrombophilia and needs blood tests and genetic tests.

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© 2018 Societas Neurologica Japonica
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