RESUMEN
Protein S deficiency causes spinal cord infarction in rare cases. We herein report the first case of severe cervicothoracic cord infarction in an adolescent with protein S deficiency. A 16-year-old boy presented with neck pain, four-limb paralysis, and numbness. Magnetic resonance imaging revealed spinal artery infarction in the C4 to Th4 area. Protein S antigen and activity were decreased. The patient was diagnosed with protein S deficiency-associated cervicothoracic cord infarction, which was treated with anticoagulation. Protein S deficiency should be considered as a potential cause of spinal cord infarction in young healthy patients and should be appropriately treated with anticoagulation.
Asunto(s)
Ataque Isquémico Transitorio , Deficiencia de Proteína S , Masculino , Humanos , Adolescente , Médula Espinal/diagnóstico por imagen , Médula Espinal/patología , Deficiencia de Proteína S/complicaciones , Deficiencia de Proteína S/patología , Infarto/complicaciones , Infarto/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , AnticoagulantesRESUMEN
A child with vertical transmission of human immunodeficiency virus refractory to therapy developed zoster-induced protein S deficiency and recurrent strokes. Extensive carotid arteritis was found postmortem. The carotid tissue was positive for herpes varicella zoster by polymerase chain reaction, as were immunofixation stains of the arterial wall.
Asunto(s)
Síndrome de Inmunodeficiencia Adquirida/diagnóstico , VIH-1/patogenicidad , Herpesvirus Humano 3/patogenicidad , Transmisión Vertical de Enfermedad Infecciosa , Infección por el Virus de la Varicela-Zóster/diagnóstico , Vasculitis del Sistema Nervioso Central/diagnóstico , Síndrome de Inmunodeficiencia Adquirida/tratamiento farmacológico , Síndrome de Inmunodeficiencia Adquirida/transmisión , Síndrome de Inmunodeficiencia Adquirida/virología , Adulto , Fármacos Anti-VIH/uso terapéutico , Terapia Antirretroviral Altamente Activa , Arterias Carótidas/patología , Arterias Carótidas/virología , Preescolar , Tolerancia a Medicamentos , Resultado Fatal , Femenino , VIH-1/crecimiento & desarrollo , Herpesvirus Humano 3/crecimiento & desarrollo , Humanos , Deficiencia de Proteína S/diagnóstico , Deficiencia de Proteína S/patología , Deficiencia de Proteína S/virología , Recurrencia , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/patología , Accidente Cerebrovascular/virología , Infección por el Virus de la Varicela-Zóster/patología , Infección por el Virus de la Varicela-Zóster/virología , Vasculitis del Sistema Nervioso Central/patología , Vasculitis del Sistema Nervioso Central/virologíaRESUMEN
The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8-30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis. PS mutations were identified in four patients: p.R355C, p.G336D, p.E67A, and p.N188KfsX9. p.N188KfsX9 is a novel mutation with less than 20% PS activity noted in heterozygotes.
Asunto(s)
Deficiencia de Proteína S/epidemiología , Deficiencia de Proteína S/genética , Trombosis de los Senos Intracraneales/genética , Accidente Cerebrovascular/genética , Tromboembolia/epidemiología , Tromboembolia/genética , Trombosis de la Vena/genética , Adolescente , Niño , Preescolar , Femenino , Genotipo , Humanos , Masculino , Fenotipo , Reacción en Cadena de la Polimerasa , Deficiencia de Proteína S/patología , Estudios Retrospectivos , Tailandia/epidemiologíaRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Anciano , Púrpura/diagnóstico , Púrpura/inmunología , Púrpura/patología , Deficiencia de Proteína S/diagnóstico , Deficiencia de Proteína S/patología , Deficiencia de Proteína S/terapia , Anticoagulantes/farmacología , Anticoagulantes/uso terapéutico , Biopsia/instrumentación , Biopsia/métodos , Biopsia , Trombofilia/congénito , Trombofilia/diagnóstico , Trombofilia/terapiaRESUMEN
Cerebral venous thrombosis, including thrombosis of cerebral veins and major dural sinuses, is an uncommon disorder in the general population. However, it has a higher frequency among patients younger than 40 years of age, patients with thrombophilia, pregnant patients or those receiving hormonal contraceptive therapy or has foreign body such as catheter in their veins or arterial system. In this case report, we described clinical and radiological findings in a patient with protein C-S deficiency and malposition of central vein catheter.
Asunto(s)
Cateterismo Venoso Central/efectos adversos , Deficiencia de Proteína C/patología , Deficiencia de Proteína S/patología , Trombosis de la Vena/etiología , Catéteres Venosos Centrales/efectos adversos , HumanosRESUMEN
Dural arteriovenous fistula (DAVF) may present with a variety of neurological symptoms, ranging from tinnitus to fatal hemorrhage. We report a case of rapidly progressive cognitive impairment due to cerebral venous engorgement that reversed after endovascular treatment in a patient with DAVF, cerebral sinus thrombosis and protein S deficiency. DAVF may be a cause of vascular cognitive impairment and should be considered particularly in cases with a rapidly progressive course because they are potentially treatable.
Asunto(s)
Malformaciones Vasculares del Sistema Nervioso Central/fisiopatología , Malformaciones Vasculares del Sistema Nervioso Central/terapia , Trastornos del Conocimiento/fisiopatología , Deficiencia de Proteína S/fisiopatología , Trombosis de los Senos Intracraneales/fisiopatología , Anciano , Angiografía de Substracción Digital , Encéfalo/patología , Malformaciones Vasculares del Sistema Nervioso Central/patología , Angiografía Cerebral , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/patología , Trastornos del Conocimiento/terapia , Progresión de la Enfermedad , Embolización Terapéutica , Humanos , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Deficiencia de Proteína S/patología , Trombosis de los Senos Intracraneales/patologíaRESUMEN
We retrospectively analyzed the data of 24 children (whereof 11 neonates), with non-central venous line-related and nonmalignancy-related venous thromboembolism (VTE) at uncommon sites, referred to our Unit from January 1999 to January 2012. Thirty patients who also suffered deep vein thrombosis, but in upper/low extremities, were not included in the analysis. The location of rare site VTE was: portal (n=7), mesenteric (n=2) and left facial vein (n=1), spleen (n=3), lung (n=3), whereas 10 neonates developed renal venous thrombosis. The majority of patients (91.7%) had at least 1 risk factor for thrombosis. Identified thrombophilic factors were: antiphospholipid antibodies (n=2), FV Leiden heterozygosity (n=6), MTHFR C677T homozygosity (n=4), protein S deficiency (n=2), whereas all neonates had age-related low levels of protein C and protein S. All but 6 patients received low-molecular-weight heparin, followed by warfarin in 55% of cases, for 3 to 6 months. Prolonged anticoagulation was applied in selected cases. During a median follow-up period of 6 years, the clinical outcome was: full recovery in 15 patients, evolution to both chronic portal hypertension and esophageal varices in 2 children, and progression to renal failure in 7 of 10 neonates. Neonates are greatly vulnerable to complications after VTE at uncommon sites, particularly renal. Future multicentre long-term studies on neonatal and pediatric VTE at unusual sites are considered worthwhile.
Asunto(s)
Anticoagulantes/uso terapéutico , Venas/patología , Tromboembolia Venosa/tratamiento farmacológico , Tromboembolia Venosa/patología , Trombosis de la Vena/tratamiento farmacológico , Trombosis de la Vena/patología , Niño , Várices Esofágicas y Gástricas/patología , Factor V/metabolismo , Femenino , Estudios de Seguimiento , Heparina de Bajo-Peso-Molecular/uso terapéutico , Humanos , Hipertensión Portal/patología , Lactante , Recién Nacido , Masculino , Venas Mesentéricas/patología , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Vena Porta/patología , Deficiencia de Proteína S/patología , Venas Pulmonares/patología , Venas Renales/patología , Estudios Retrospectivos , Bazo/patología , Tromboembolia Venosa/genética , Trombosis de la Vena/genética , Warfarina/uso terapéuticoRESUMEN
A 12-year-old Japanese girl developed infective endocarditis and central nervous system disease. The previously healthy girl showed altered consciousness and abnormal behaviors along with the classical signs of septic emboli. Staphylococcus aureus was isolated from peripheral blood, but not, the pleocytotic cerebrospinal fluid. Diagnostic imaging studies revealed a vegetative structure in the morphologically normal heart, and multiple thromboembolisms in the brain and spleen. Low plasma activity of protein S (12%) and thrombophilic family history allowed the genetic study, demonstrating that she carried a heterozygous mutation of PROS1 (exon 13; 1689C > T, p.R474C). Surgical intervention of the thrombotic fibrous organization and subsequent anticoagulant therapy successfully managed the disease. There are no reports of infective endocarditis in childhood occurring as the first presentation of heritable thrombophilia. Protein S deficiency might be a risk factor for the development or exacerbation of infective endocarditis in children having no pre-existing heart disease.
Asunto(s)
Endocarditis Bacteriana/microbiología , Deficiencia de Proteína S/microbiología , Infecciones Estafilocócicas/diagnóstico , Niño , Endocarditis Bacteriana/sangre , Endocarditis Bacteriana/patología , Femenino , Ventrículos Cardíacos/patología , Humanos , Linaje , Deficiencia de Proteína S/sangre , Deficiencia de Proteína S/patología , Infecciones Estafilocócicas/sangre , Infecciones Estafilocócicas/patología , Staphylococcus aureus/aislamiento & purificación , Tromboembolia/microbiologíaRESUMEN
Protein S is one of the major natural anticoagulants. A missense serine 501 to proline (S501P) Heerlen polymorphism is associated with reduced levels of free protein S. Heerlen polymorphism, especially when combined with other thrombophilia risk factors, can lead to thromboembolic complications. To our knowledge, we report here the first Polish case associated with heterozygous Heerlen polymorphism resulting in type III protein S deficiency, detected in a 50-year-old man with several thrombotic episodes of deep and superficial veins and a highly positive thrombotic family history. The patient also had factor V Leiden mutation and persistently elevated anticardiolipin antibodies. It seems that increased risk of thrombotic complications could be explained in the patient by a synergy between the effects of Heerlen polymorphism, factor V Leiden heterozygous status and antiphospholipid syndrome.
Asunto(s)
Proteínas Sanguíneas/genética , Factor V/genética , Deficiencia de Proteína S/genética , Trombosis de la Vena/genética , Factor V/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense , Polonia , Polimorfismo Genético , Proteína S , Deficiencia de Proteína S/sangre , Deficiencia de Proteína S/patología , Trombosis de la Vena/sangre , Trombosis de la Vena/patologíaRESUMEN
BACKGROUND AND PURPOSE: Despite a paucity of evidence supporting a true association of ischemic stroke and the inherited thrombophilias, it is common practice for many neurologists to order these tests as part of the work-up of ischemic stroke, especially in young patients. Treatment with oral anticoagulation is often used in patients with positive results for the inherited thrombophilias. METHODS: We reviewed the literature focusing on case-control studies of the 5 most commonly inherited disorders of coagulation: protein C deficiency, protein S deficiency, antithrombin deficiency, and the factor V Leiden and prothrombin gene mutations in patients with stroke. We also analyzed the available data on stroke patients with inherited thrombophilia and patent foramen ovale. RESULTS: Multiple case-control studies have not convincingly shown an association of the inherited thrombophilias with ischemic stroke, even in young patients and patients with patent foramen ovale. CONCLUSIONS: If there is an association between the inherited thrombophilias and arterial stroke, then it is a weak one, likely enhanced by other prothrombotic risk factors. The consequences of ordering these tests and attributing causality to an arterial event can result in significant costs to the health care system and pose a potential risk to patients, because this may lead to inappropriate use of long-term oral anticoagulants, exposing patients to harm without a clearly defined benefit.
Asunto(s)
Accidente Cerebrovascular/diagnóstico , Trombofilia/diagnóstico , Deficiencia de Antitrombina III/genética , Deficiencia de Antitrombina III/patología , Isquemia Encefálica/complicaciones , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/genética , Estudios de Casos y Controles , Análisis Costo-Beneficio , Deficiencia del Factor V/genética , Deficiencia del Factor V/patología , Foramen Oval Permeable/complicaciones , Foramen Oval Permeable/patología , Humanos , Deficiencia de Proteína C/genética , Deficiencia de Proteína C/patología , Deficiencia de Proteína S/genética , Deficiencia de Proteína S/patología , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/genética , Trombofilia/complicaciones , Trombofilia/genéticaRESUMEN
BACKGROUND: Vitamin K deficiency is the major cause of coagulopathy-induced intracranial bleeding in term neonates and is considered first in any term neonate with severe hemorrhage. The most common manifestation of hereditary prothrombotic disorders during the neonatal period is thrombosis of the A. cerebri media or sinus thrombosis. CASE REPORT: A 4-day-old newborn was admitted with seizures and hemorrhagic shock. Ultrasound revealed a left-sided intraparenchymatous bleeding. MRI findings supported a subarachnoidal and intracerebral mass bleeding. Vitamin K deficiency-related bleeding or hemophiliac diseases were excluded; however, homozygous protein S deficiency with a new mutation in the protein S (PROS1) gene (c.701A>G, p.Tyr234Cys) was found. The patient experienced an additional thrombosis of the A. abdominalis and expired. CONCLUSION: Congenital prothrombotic disorders have to be considered in the differential diagnosis of neonatal intracranial hemorrhage. This newly described mutation in the PROS1 gene (c.701A>G, p.Tyr234Cys) appears to be of clinical relevance.
Asunto(s)
Proteínas Sanguíneas/genética , Hemorragias Intracraneales/genética , Mutación Puntual , Deficiencia de Proteína S/genética , Pruebas de Química Clínica , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Proteína S , Deficiencia de Proteína S/congénito , Deficiencia de Proteína S/patología , Valores de ReferenciaRESUMEN
La capacidad de las lipoproteínas de alta densidad (HDL) para transportar el colesterol desde los tejidos periféricos hasta el hígado para su excreción se considera crucial para prevenir la acumulación de macrófagos espumosos en la íntima arterial. La adquisición del colesterol celular se inicia con la cesión de éste a la apolipoproteína (apo) A-I mediante ABCA1, generándose así pre-β HDL. La esterificación del colesterol por la lecitinacolesterol aciltransferasa promueve la formación de HDL maduras (α HDL). En humanos, prácticamente todos los ésteres de colesterol de las HDL llegan al hígado tras su transferencia a las lipoproteínas de muy baja (VLDL) y baja (LDL) densidad por la proteína transferidora de ésteres de colesterol y posterior captación mediante el receptor de LDL. Sin embargo, las HDL pueden entregar directamente colesterol libre al hígado mediante el receptor CLA-1/SR-BI, paso facilitado por la acción previa de la lipasa hepática. Estas últimas interacciones causan la liberación de HDL pequeñas y apo A-I, que adquirirán nuevamente colesterol en los tejidos periféricos (AU)
The ability of high-density lipoproteins (HDL) to transport cholesterol from peripheral tissues to the liver for excretion is considered crucial to prevent the accumulation of foamy macrophages in the arterial intima. The acquisition of cellular cholesterol is initiated by ABCA1-mediated cholesterol efflux to apolipoprotein (apo) A-I, thus generating pre-β-HDL. Cholesterol esterification by lecithin-cholesterol acyltransferase promotes the formation of mature HDL (α-HDL). In humans, practically all HDL cholesterol esters reach the liver after being transferred to very low (VLDL)- and low (LDL)-density lipoproteins by the cholesteryl ester transfer protein and subsequent uptake by the LDL receptor. However, HDL can deliver free cholesterol directly to the liver through the CLA- 1/SR-B1 receptor, a step that is aided by the prior action of hepatic lipase. These latter interactions lead to the release of small HDL particles and apo A-I, which then can newly acquire cholesterol in the peripheral tissues (AU)
Asunto(s)
Femenino , Humanos , Masculino , Colesterol/sangre , Fosfatidilcolina-Esterol O-Aciltransferasa/administración & dosificación , Deficiencia de Proteína S/patología , Aterosclerosis/metabolismo , Hígado/anomalías , Lipasa/deficiencia , Bilis/enzimología , Lipólisis/genética , Colesterol/metabolismo , Fosfatidilcolina-Esterol O-Aciltransferasa/metabolismo , Deficiencia de Proteína S/complicaciones , Aterosclerosis/complicaciones , Hígado/citología , Lipasa/farmacología , Bilis/citología , Lipólisis/fisiologíaRESUMEN
Protein S (ProS) is a blood anticoagulant encoded by the Pros1 gene, and ProS deficiencies are associated with venous thrombosis, stroke, and autoimmunity. These associations notwithstanding, the relative risk that reduced ProS expression confers in different disease settings has been difficult to assess without an animal model. We have now described a mouse model of ProS deficiency and shown that all Pros1-/- mice die in utero,from a fulminant coagulopathy and associated hemorrhages. Although ProS is known to act as a cofactor for activated Protein C (aPC), plasma from Pros1+/- heterozygous mice exhibited accelerated thrombin generation independent of aPC, and Pros1 mutants displayed defects in vessel development and function not seen in mice lacking protein C. Similar vascular defects appeared in mice in which Pros1 was conditionally deleted in vascular smooth muscle cells. Mutants in which Pros1 was deleted specifically in hepatocytes, which are thought to be the major source of ProS in the blood, were viable as adults and displayed less-severe coagulopathy without vascular dysgenesis. Finally, analysis of mutants in which Pros1 was deleted in endothelial cells indicated that these cells make a substantial contribution to circulating ProS. These results demonstrate that ProS is a pleiotropic anticoagulant with aPC-independent activities and highlight new roles for ProS in vascular development and homeostasis.
Asunto(s)
Trastornos de la Coagulación Sanguínea/embriología , Trastornos de la Coagulación Sanguínea/fisiopatología , Vasos Sanguíneos/embriología , Deficiencia de Proteína S/embriología , Deficiencia de Proteína S/fisiopatología , Proteína S/fisiología , Animales , Circulación Sanguínea , Coagulación Sanguínea , Trastornos de la Coagulación Sanguínea/patología , Vasos Sanguíneos/anomalías , Vasos Sanguíneos/fisiopatología , Encéfalo/anomalías , Encéfalo/irrigación sanguínea , Encéfalo/embriología , Encéfalo/patología , Pérdida del Embrión , Células Endoteliales/metabolismo , Marcación de Gen , Hemorragia/embriología , Hemorragia/metabolismo , Hepatocitos/metabolismo , Heterocigoto , Homeostasis , Ratones , Ratones Noqueados , Proteína C/metabolismo , Proteína S/genética , Proteína S/metabolismo , Deficiencia de Proteína S/patología , Médula Espinal/irrigación sanguínea , Médula Espinal/embriología , Trombina/metabolismoRESUMEN
Protein S (PS) is an important natural anticoagulant with potentially multiple biologic functions. To investigate further the role of PS in vivo, we generated Pros(+/-) heterozygous mice. In the null (-) allele, the Pros exons 3 to 7 have been excised through conditional gene targeting. Pros(+/-) mice did not present any signs of spontaneous thrombosis and had reduced PS plasma levels and activated protein C cofactor activity in plasma coagulation and thrombin generation assays. Tissue factor pathway inhibitor cofactor activity of PS could not be demonstrated. Heterozygous Pros(+/-) mice exhibited a notable thrombotic phenotype in vivo when challenged in a tissue factor-induced thromboembolism model. No viable Pros(-/-) mice were obtained through mating of Pros(+/-) parents. Most E17.5 Pros(-/-) embryos were found dead with severe intracranial hemorrhages and most likely presented consumptive coagulopathy, as demonstrated by intravascular and interstitial fibrin deposition and an increased number of megakaryocytes in the liver, suggesting peripheral thrombocytopenia. A few E17.5 Pros(-/-) embryos had less severe phenotype, indicating that life-threatening manifestations might occur between E17.5 and the full term. Thus, similar to human phenotypes, mild heterozygous PS deficiency in mice was associated with a thrombotic phenotype, whereas total homozygous deficiency in PS was incompatible with life.
Asunto(s)
Deficiencia de Proteína S/metabolismo , Proteína S , Animales , Modelos Animales de Enfermedad , Muerte Fetal/genética , Muerte Fetal/metabolismo , Muerte Fetal/patología , Heterocigoto , Humanos , Hemorragias Intracraneales/genética , Hemorragias Intracraneales/mortalidad , Hemorragias Intracraneales/patología , Lipoproteínas , Hígado/metabolismo , Hígado/patología , Megacariocitos/metabolismo , Megacariocitos/patología , Ratones , Ratones Noqueados , Proteína C/genética , Proteína C/metabolismo , Deficiencia de Proteína S/genética , Deficiencia de Proteína S/patología , Trombina/genética , Trombina/metabolismo , Tromboembolia/genética , Tromboembolia/metabolismo , Tromboembolia/patologíaRESUMEN
BACKGROUND: Several genetic polymorphisms increase the risk for venous thrombembolism (VTE). In particular, combined oral contraceptives (COCs) are known to enhance the risk for VTE and are therefore contraindicated. CASE: We present here the case of a patient with protein S deficiency, who has used COCs together with anticoagulatory therapy (Phenprocoumon) after suffering from deep venous thromboses for 4 years. At the time of her first consultation at our clinic, the ultrasound examination showed a complete involution of her venous thrombosis. CONCLUSION: COCs can be used in patients with thrombogenic mutations and anticoagulatory therapy in individual cases.
Asunto(s)
Anticoagulantes/uso terapéutico , Anticonceptivos Orales Combinados/efectos adversos , Deficiencia de Proteína S/complicaciones , Trombosis de la Vena/etiología , Adulto , Femenino , Humanos , Fenprocumón/uso terapéutico , Deficiencia de Proteína S/tratamiento farmacológico , Deficiencia de Proteína S/patología , Trombosis de la Vena/inducido químicamente , Trombosis de la Vena/genética , Trombosis de la Vena/patologíaRESUMEN
A 3.5-year-old boy presented with purpura on the buttocks extending towards both legs. Two weeks earlier, he had had chickenpox. Because of the rapidly progressing purpura with clinical signs of hypovolaemic shock, he was treated with fresh frozen plasma, packed red blood cells, intravenous immunoglobulins, prednisolone, acyclovir and ceftriaxone. The purpura stopped spreading. In the next few days, the skin at the site of the purpura became necrotic and was excised, as was the subcutis and part of the fascia on both legs and flanks. The right lower leg was amputated and a temporary colostomy was created to prevent faecal contamination of the wounds. The patient recovered and was discharged after three months. Purpura fulminans is a rare complication after a primary infection with varicella zoster virus. A varicella infection may lead to protein S deficiency resulting in diffuse intravascular coagulation and severe skin defects.
Asunto(s)
Varicela/complicaciones , Deficiencia de Proteína S/etiología , Púrpura Fulminante/etiología , Amputación Quirúrgica , Preescolar , Herpesvirus Humano 3/patogenicidad , Humanos , Masculino , Necrosis/patología , Necrosis/cirugía , Deficiencia de Proteína S/complicaciones , Deficiencia de Proteína S/patología , Deficiencia de Proteína S/terapia , Púrpura Fulminante/patología , Púrpura Fulminante/cirugía , Púrpura Fulminante/terapiaAsunto(s)
Factor XII/genética , Homocigoto , Pierna/irrigación sanguínea , Mutación Puntual , Deficiencia de Proteína S/patología , Trombosis de la Vena/patología , Adolescente , Predisposición Genética a la Enfermedad , Humanos , Vena Ilíaca/diagnóstico por imagen , Vena Ilíaca/patología , Masculino , Polimorfismo Genético , Vena Poplítea/diagnóstico por imagen , Vena Poplítea/patología , Deficiencia de Proteína S/diagnóstico , Ultrasonografía Intervencional , Trombosis de la Vena/diagnósticoRESUMEN
Relata-se o caso de um adolescente com 14 anos de idade, do sexo masculino, que apresentava diagnóstico de deficiência de proteína C e S e desnvolveu trombose de veia cava após treino de capoeira. Enfatiza-se os achados clínicos e dados relevantes de literatura e alerta-se para os cuidados preventivos
Asunto(s)
Humanos , Masculino , Adolescente , Deficiencia de Proteína C/congénito , Deficiencia de Proteína C/patología , Deficiencia de Proteína S/congénito , Deficiencia de Proteína S/genética , Deficiencia de Proteína S/patología , Trombosis de la VenaRESUMEN
BACKGROUND: We report an unusual case, which may provide insight into the etiology and pathogenesis of dural arteriovenous malformation. CASE DESCRIPTION: A 24-year-old woman presented with hemorrhage into a pilocytic astrocytoma of the collicular plate. Angiography was normal and the tumor was surgically resected. She developed sigmoid sinus thrombosis and a transverse/sigmoid sinus dural arteriovenous fistula 11 months after this and was found to have protein S deficiency. The fistula was not treated. Angiography 4 years later was unchanged. CONCLUSION: This report illustrates an acquired etiology of a dural arteriovenous fistula. To our knowledge this is the first reported case of postoperative sigmoid sinus thrombosis along with arteriovenous fistula in a patient with previously undetected protein S deficiency.
Asunto(s)
Astrocitoma/cirugía , Neoplasias Encefálicas/cirugía , Malformaciones Vasculares del Sistema Nervioso Central/etiología , Craneotomía/efectos adversos , Colículos Inferiores/cirugía , Deficiencia de Proteína S/complicaciones , Adulto , Astrocitoma/diagnóstico por imagen , Astrocitoma/patología , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico por imagen , Malformaciones Vasculares del Sistema Nervioso Central/patología , Femenino , Humanos , Colículos Inferiores/diagnóstico por imagen , Colículos Inferiores/patología , Deficiencia de Proteína S/diagnóstico por imagen , Deficiencia de Proteína S/patología , RadiografíaRESUMEN
A 41-year-old woman with complete protein S (PS) deficiency who developed diffuse proliferative lupus nephritis is reported. She was referred to our hospital with nephrotic syndrome and thrombocytopenia. Her medical history included colorectostomy and amputation of the extremities because of repeated thrombotic episodes during her teens without any evidence of systemic lupus erythematosus. The diagnosis of PS deficiency was made from the patient's clinical course, undetectable serum PS in either the active or inactive form, normal protein C activity, and no evidence of the antiphospholipid syndrome. However, there was no definitive family history. A depressed level of complements and a positive antinuclear acid antibody suggested a diagnosis of systemic lupus erythematosus. The patient had a rapidly progressive course and died of disseminated intravascular coagulation. An autopsy showed generalized thrombotic lesions and diffuse proliferative lupus nephritis on both ordinal light and immunoperoxidase microscopy. Our observations suggest that PS-deficient patients may have a hyperinflammatory response.