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

• 发表时间: Dec 2018 21
• 来源期刊: Rinsho Shinkeigaku
• DOI: 10.5692/clinicalneurol.cn-001221
• PMID: 30487363
• 文章类型: Case Reports
• 作者列表: Sugahara Y,Ono N,Morishita E,Takashima H

关键词: cerebral venous thrombosis; congenital protein C deficiency; congenital thrombophilia; protein C gene mutation

Mesh: Adult; Autoantigens / blood; Cerebral Veins; Exons / genetics; Humans; Intracranial Thrombosis / diagnostic imaging etiology genetics; Male; Mutation; Protein C / genetics immunology; Protein C Deficiency / congenital genetics; Recurrence

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.