title: Cerebral venous thrombosis in young adult with familial protein S deficiency.
abstract: Hereditary thrombophilia is the inherited predisposition to venous or, occasionally, arterial thrombosis. In most cases, it is because of changes related to physiological coagulation inhibitors or mutations in genes of coagulation factors. Protein S, a vitamin K-dependent plasma glycoprotein, is a natural anticoagulant and its deficiency is associated with familial venous thrombosis. We present a case study that brings together two rare diseases, cerebral venous thrombosis (CVT) and familial protein S deficiency, in a 21-year-old male patient with a positive family history of thrombosis. He developed a headache of moderate intensity lasting 30 days, followed by bizarre movements, which culminated in the patient's death. This report discusses the importance of family history for the diagnosis of hereditary thrombophilia, as well as the request for brain imaging for diagnosis of CVT for an early appropriate intervention, and the importance of specialized medical guidance for family members, who must receive medical advice to prevent another fatal episode in a family member.
authors.affiliation: aFundação Hemocentro de Brasília bNúcleo de Hematologia e Hemoterapia do Hospital de Base do Distrito Federal, Brasília/DF cFaculdades Integradas da União Educacional do Planalto Central (Faciplac), Curso de Medicina, Campus Gama/DF dClínica Villas Boas eDepartamento de Genética e Morfologia, Universidade Federal de Brasília, Brasília/DF, Brazil.
authors.forename: Franciele M
authors.initials: FM
authors.lastname: Amaral
authors.forename: Caroline Ribeiro da
authors.initials: CR
authors.lastname: Silva
authors.forename: Michelle G
authors.initials: MG
authors.lastname: Borém
authors.forename: Ana L
authors.initials: AL
authors.lastname: Miranda-Vilela
mesh_terms: D003128:Coma / Q000209:etiology; D003951:Diagnostic Errors; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020767:Intracranial Thrombosis / Q000175:diagnosis* / Q000209:etiology; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D018455:Protein S Deficiency / Q000150:complications* / Q000235:genetics; D012640:Seizures / Q000209:etiology; D012852:Sinusitis / Q000175:diagnosis; D019956:Stereotypic Movement Disorder / Q000209:etiology; D019966:Substance-Related Disorders / Q000175:diagnosis; D055815:Young Adult