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Rinsho Shinkeigaku ; 58(12): 764-766, 2018 Dec 21.
Artigo em Japonês | MEDLINE | ID: mdl-30487363

RESUMO

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.


Assuntos
Veias Cerebrais , Trombose Intracraniana/etiologia , Trombose Intracraniana/genética , Mutação , Deficiência de Proteína C/congênito , Deficiência de Proteína C/genética , Proteína C/genética , Adulto , Autoantígenos/sangue , Éxons/genética , Humanos , Trombose Intracraniana/diagnóstico por imagem , Masculino , Proteína C/imunologia , Recidiva
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