Protein C and protein S deficiency associated cerebral venous thrombosis: one case report.
Objective To report one case with protein C deficiency (PCD) and protein S deficiency (PSD) associated cerebral venous thrombosis (CVT), and to explore diagnostic and therapeutic strategies. Methods and Results A 27-year-old male patient presented with positional headache, worsened in supine positio...
| Publicado en: | Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 25; no. 6; pp. 523 - 530 |
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| Autores principales: | , , , , , |
| Formato: | case study diagnostic images Journal Article |
| Publicado: |
Chinese Journal of Contemporary Neurology & Neurosurgery
Jun2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=186295679&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 186295679 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 16726731 FDQ6 jtl: Chinese Journal of Contemporary Neurology & Neurosurgery issn: 16726731 maglogo: N pubinfo: dt: Jun2025 vid: 25 iid: 6 pid: 80951 pub: Chinese Journal of Contemporary Neurology & Neurosurgery artinfo: ui: 186295679 186295679 186295679 10.3969/j.issn.1672-6731.2025.06.011 186295679 ppf: 523 ppct: 7 formats: fmt: @attributes: type: P tig: atl: Protein C and protein S deficiency associated cerebral venous thrombosis: one case report. aug: au: HUANG Zhan ZHU Ming-fang MENG Qi TAN Lei-lei ZHANG Jie-wen HUANG Yue affil: Department of Neurology, Zhengzhou University People's Hospital; He'nan Provincial People's Hospital, Zhengzhou 450003, He'nan, China sug: subj: Blood Protein Disorders Etiology Cerebral Veins Pathology Sinus Thrombosis, Intracranial Diagnosis Sinus Thrombosis, Intracranial Therapy Male Adult Headache Brain Radiography Blood Proteins Analysis Cerebrospinal Fluid Analysis Genetic Screening Mutation Heparin Administration and Dosage Anticoagulants Administration and Dosage Monitoring, Intracranial Pressure Nerve Growth Factors Therapeutic Use Analgesia Adult: 19-44 years Male ab: Objective To report one case with protein C deficiency (PCD) and protein S deficiency (PSD) associated cerebral venous thrombosis (CVT), and to explore diagnostic and therapeutic strategies. Methods and Results A 27-year-old male patient presented with positional headache, worsened in supine position and relieved upon standing. Imaging findings showed thrombosis in the right transverse sinus, sigmoid sinus, and confluence of sinus. Laboratory tests showed significantly reduced protein C and protein S activities (49% and 51%) and elevated cerebrospinal fluid (CSF) pressure (> 330 mm H2O). Genetic test identified a frameshift mutation in the PROC gene [c.574_577del (p.Val192Serfs*5)] and missense mutation in the PROS1 gene [c.1915T > G (p.Cys639Gly) and c.301C > T (p.Arg101Cys)]. After receiving heparin followed by non-vitamin K oral anticoagulants (NOACs), alongside intracranial pressure reduction, neurotrophic therapy, and analgesia treatment, the patient's headache symptom resolved, and at 4-month follow-up reexamination showed CSF pressure normalized (135 mm H2O), with protein C and protein S activities rising to 53% and 54.10% (still below normal ranges). No headache recurrence was observed. Conclusions PCD and PSD are critical etiological factors for CVT. NOACs effectively improve venous reflux and avoid warfarin-related coagulation dysfunction, representing a preferred therapeutic option. Screening for coagulation protein activity and genetic analysis in young patients is essential to guide precise anticoagulation management. pubtype: Academic Journal doctype: case study diagnostic images Journal Article ougenre: Article language: Chinese refInfo: holdings: @attributes: islocal: N |
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