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• Vol.58 No.12
• CLINICA NEUROL, 58: 764−766, 2018
• Vol.58 No.12 contents

Brief Clinical Note

A case of recurrent cerebral vein thrombosis with protein C gene mutation identified

Yumeho Sugahara, M.D.¹⁾, Natsuki Ono, M.D.¹⁾, Eriko Morishita, M.D., Ph.D.²⁾ and Hiroshi Takashima, M.D., Ph.D.¹⁾

¹⁾Department of Neurology, Saga-ken Medical Centre Koseikan
²⁾Department of Clinical Laboratory Science, Graduate School of Medical Science, Kanazawa University

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.
Full Text of this Article in Japanese PDF (522K)

(CLINICA NEUROL, 58: 764−766, 2018)
key words: cerebral venous thrombosis, protein C gene mutation, congenital protein C deficiency, congenital thrombophilia

(Received: 10-Sep-18)