Características de la trombosis venosa cerebral en pacientes de dos hospitales universitarios de Colombia en el período 2018-2020 / Characteristics of cerebral venous thrombosis in patients from two university hospitals in Colombia between 2018-2020

Introducción. La trombosis venosa cerebral es una causa infrecuente de enfermedad cerebrovascular que viene en aumento a nivel mundial. A pesar de ello, actualmente, en Colombia no se cuenta con estudios suficientes que nos permitan caracterizar epidemiológicamente la enfermedad en nuestra población para identificar los factores de riesgo y las complicaciones más frecuentes en nuestro medio. Objetivo. Describir las características clínicas, demográficas y radiológicas, y los factores de riesgo de una serie de pacientes con trombosis venosa cerebral de dos hospitales de Colombia. Materiales y métodos. Es un estudio descriptivo retrospectivo de pacientes hospitalizados, atendidos en el servicio de neurología de dos hospitales de Bogotá desde diciembre de 2018 hasta diciembre del 2020. Resultados. Se incluyeron 33 pacientes. Las frecuencias más altas correspondieron a mujeres en edad fértil, en puerperio (n=7; 33,3 %) y pacientes con patologías autoinmunes (n=10; 30,3 %). El síntoma inicial más común fue la cefalea (n=31; 93,9 %), seguido de focalización neurológica (n=9; 27,2%) y crisis epiléptica (n=8; 24,2 %). El 51 % (n=17) de los pacientes tuvo un examen físico normal. El infarto venoso cerebral se presentó en el 21,1 % (n=7), la hemorragia subaracnoidea en el 12,1 % (n=4) y el hematoma intraparenquimatoso en el 9 % (n=3) del total de pacientes. El 60,6 % (n=20) quedó con nivel independiente en la escala funcional de Barthel. Ningún paciente falleció. Conclusiones. Se encontraron características sociodemográficas, clínicas y radiológicas similares a lo reportado en la literatura mundial. Con respecto a las diferencias, se encontró en nuestro estudio compromiso de la circulación venosa cerebral profunda en un porcentaje ligeramente mayor a lo descrito, pero sin aumento de complicaciones, ni mortalidad.

Introduction. Cerebral venous thrombosis is an uncommon cause of cerebrovascular disease, which has been increasing worldwide. In Colombia, there are not enough recent studies that allow us to determine epidemiological characteristics of the disease in our population to identify more frequent risk factors and complications according to our living conditions. Objective. To describe clinical, demographic, and radiographic characteristics, and risk factors in a cohort of patients with cerebral venous thrombosis attended at two hospitals in Colombia. Materials and methods. Retrospective descriptive study with patients treated in the hospitalization neurology service of two hospitals in Bogotá, Colombia from December 2018 to December 2020. Results. Thirty-three patients were included. There was a higher incidence of cerebral venous thrombosis in women of childbearing age in the puerperium (n=7; 33.3%) and associated with autoimmune diseases (n=10; 30.3%). The most common initial symptom was headache (n=31; 93.9 %), followed by neurological focal signs (n=9; 27.2%) and seizures (n=8; 24.2%). Fifty-one percent (n=17) of the patients had a normal physical examination. Cerebral venous infarction occurred in 21.1 % (n=7), subarachnoid hemorrhage in 12.1 % (n=4), and intraparenchymal hematoma in 9 % (n=3) of all the patients. Sixty-point six percent (n=20) of the patients had a total independent Barthel functional scale. None of those died. Conclusions. We found similar sociodemographic, clinical, and radiography characteristics to those reported in the world literature. Regarding the differences, deep cerebral venous circulation was higher than that described in previous studies but without complications increase or mortality.

Les syndromes coronariens aigus chez les patients COVID-19: à propos de trois cas au Centre Hospitalier Universitaire de Libreville, au Gabon / Acute coronary syndromes in COVID-19 patients : about three cases in the Libreville University Hospital Center, in Gabon

Introduction : Les thromboses artérielles, notamment coronaires, font partie des nombreuses manifestations extrapulmonaires de l'infection au coronavirus SARSCoV-2 dans les pays industrialisés. Cas cliniques: Ce travail rapporte trois observations de patients hospitalisés au Centre Hospitalier Universitaire de Libreville pour lesquels un diagnostic de syndrome coronarien aigu avait été retenu dans un contexte de Covid-19 durant la période allant du 1er mai au 30 septembre 2020. La première rapporte l'échec d'une thrombolyse avec la formation précoce d'un thrombus intraventriculaire gauche chez un patient de 59 ans ayant présenté un syndrome coronaire aigu antérieur étendu. Cette évolution particulière témoigne du caractère hautement inflammatoire et prothrombogène de la Covid-19. Les deux autres observations mettent l'accent sur les présentations parfois atypiques et les difficultés diagnostiques des syndromes coronariens aigus dans cette situation à Libreville. Conclusion : Le diagnostic et la prise en charge des syndromes coronariens aigus sont complexes dans le contexte d'infection à SARSCoV-2 dans nos régions

Introduction: Arterial thrombosis, particularly coronary thrombosis, is one of the many extrapulmonary manifestations of infection with the SARSCoV-2 coronavirus in industrialized countries. Clinical cases: This work reports three observations of patients hospitalized at the Center Hospitalier Universitaire de Libreville for whom a diagnosis of acute coronary syndrome had been made in Covid-19 during the period from May 1 to September 30, 2020. The first reports a thrombolysis failure with early formation of a left intraventricular thrombus in a 59-year-old patient with extensive anterior acute coronary syndrome. This particular evolution demonstrates the highly inflammatory and prothrombogenic context of Covid-19.The other two observations focus on the atypical presentations and the diagnostic difficulties of acute coronary syndromes in this infectious atmosphere in Libreville. Conclusion: The diagnosis and management of acute coronary syndromes are difficult in the context of SARSCoV-2 infection in our regions.

Trombosis de senos venosos cerebrales una manifestación extrapulmonar de COVID-19: Reporte de caso / Cerebral venous sinus thrombosis, an extrapulmonary manifestation of COVID-19: A case report

Resumen La trombosis de senos venosos cerebrales es un evento infrecuente en la población pediátrica y sus manifestaciones clínicas pueden variar dependiendo de la localización y extensión de la lesión, etiología o grupo etario (1); así mismo, la asociación de esta patología con virus es poco común, sin embargo, se han repor tado casos de trombosis de senos venosos en pacientes adultos con SARS-CoV-2 en relación con los mecanismos de lesión endotelial y respuesta inflamatoria que desencadena mecanismos procoagulantes. A continuación se presenta el primer caso reportado en Colombia de un caso de trombosis venosa cerebral en un lactante previamente sano, que debuta con un cuadro infeccioso gastrointestinal que resuelve y una semana después se presenta con cefalea y paralisis del VI par craneal derecho. Se documentó por angioto mografía trombosis del seno venoso sagital con extensión a senos transversos; los laboratorios fueron negativos para otras causas sistémicas y con prueba de anticuerpos para coronavirus positiva.

Abstract Cerebral venous sinus thrombosis is infrequent in the pediatric population and its clinical manifestations may vary depending on the anatomical location and the extent of the lesion, etiology or age group(1). The association of this pathology with viruses is uncommon, however, cases in adults with SARS-Cov2 have been reported triggered by procoagulant mechanisms due to endothelial injury and inflammatory response. The following article is the first reported case in Colombia of cerebral venous thrombosis in a previously healthy child, who debuted with gastrointestinal infectious disease and a week later with headache and sixth right cranial nerve palsy . The diagnosis of sagittal venous sinus thrombosis with extension to transverse sinuses was documented in a computed tomography angiography; laboratories for systemic diseases were negative and antibodies for coronavirus were positive.

Complicaciones de la otitis media con parálisis del sexto par craneal contralateral en pediatría / Cranial complications of otitis media with paralysis of the contralateral sixth cranial pair in pediatrics

Resumen. La otitis media es una infección frecuente en la infancia, la cual puede producir complicaciones, incluidas las neurológicas graves, en cuatro de cada 100 niños en países en desarrollo. Se presenta el caso de una niña de nueve años sin antecedentes de enfermedad que consultó por otitis media derecha, otorrea, síndrome de hipertensión intracraneal y parálisis del VI nervio craneal contralateral a la lesión. La tomografía computarizada de cráneo y la resonancia magnética cerebral revelaron otomastoiditis crónica, apicitis petrosa, y trombosis de los senos transverso y sigmoide, el bulbo yugular y la vena yugular interna derecha. Recibió tratamiento antibiótico y quirúrgico. Este caso refleja el espectro de complicaciones intracraneales y extracraneales asociadas con la otitis media aguda en la era antibiótica. El examen físico permite la detección precoz de la hipertensión intracraneal, con signos como el papiledema y la parálisis del VI par contralateral como hallazgo inusual.

Abstract. Otitis media is a frequent infection during childhood. Complications may be present in up to 4 of 100 children including serious neurological complications, particularly in developing countries. We report the case of a 9-year-old girl with no disease history who presented with otitis media, otorrhea, intracranial hypertension syndrome, and paralysis of the VI cranial nerve contralateral to the lesion. A computed tomography scan of the skull and a brain magnetic resonance imaging revealed chronic otomastoiditis, petrous apicitis, and thrombosis of the transverse and sigmoid sinus, the jugular bulb, and the right internal jugular vein. She received antibiotics and surgical treatment. This case shows the spectrum of intra and extracranial complications associated with acute otitis media in the antibiotic era. The physical examination allows early identification of intracranial hypertension with signs such as papilledema and sixth contralateral nerve palsy as an unusual finding.

Venous sinus thrombosis during COVID-19 infection in pregnancy: a case report

ABSTRACT BACKGROUND: Although it is known that the new coronavirus disease (COVID-19), which was first seen in Wuhan, China, in December 2019 and has affected the whole world, mainly targets the respiratory tract, cases of this disease with a wide clinical spectrum are emerging as information is shared. CASE REPORT: We present the case of a pregnant woman who was diagnosed with venous sinus thrombosis after she developed headache and hemiparesis. Polymerase chain reaction (PCR) positivity lasted for two weeks after COVID-19 had been diagnosed. CONCLUSIONS: In patients with suspected COVID-19, especially in the presence of causes of hypercoagu- lability and presence of atypical features, venous sinus thrombosis needs to be kept in mind in making the differential diagnosis.

Massive thrombosis and phlegmasia cerulea dolens while taking rivaroxaban: case report and review / Trombose maciça e flegmasia cerúlea dolens durante o uso de rivaroxabana: relato de caso e revisão

Abstract Our study describes a fatal case of phlegmasia cerulea dolens and massive venous thrombosis in a patient taking rivaroxaban regularly to treat cerebral venous sinus thrombosis. Blood tests samples were positive for lupus anticoagulant. The unique evolution of the case, as well as the positivity for lupus anticoagulant, raises the possibility of an acquired hypercoagulation syndrome. We highlight the fact that the test recommended as the first line for lupus anticoagulant diagnosis (dilute Russell viper venom time) is the most affected by rivaroxaban, leading to a high prevalence of false-positive results. We also discuss potential diagnoses for the current case and review the current state-of-the-art of use of the novel oral anticoagulation agents in this unusual situation. So far, there are no recommendations to use such agents as first options in cerebral venous sinus thrombosis or in hypercoagulation syndromes.

Resumo Nosso estudo descreve um caso fatal de flegmasia cerúlea dolens e trombose venosa maciça em um paciente usando regularmente rivaroxabana para o tratamento de trombose de seio venoso cerebral. A investigação laboratorial foi positiva para o anticoagulante lúpico. A evolução única do caso aumenta a possibilidade de uma síndrome de hipercoagulabilidade adquirida, bem como a positividade para o anticoagulante lúpico. Destacamos o fato de que o teste recomendado como primeira linha para o diagnóstico de anticoagulante lúpico (veneno de víbora de Russel diluído) é o mais afetado pela rivaroxabana, levando a uma alta prevalência de resultados falso-positivos. Também discutimos os potenciais diagnósticos para o presente caso e revisamos o estado da arte atual dos novos agentes de anticoagulação oral usados nessa situação incomum. Até o presente momento, não há recomendações para o uso de tais agentes como primeira opção na trombose de seios venosos cerebrais ou nas síndromes de hipercoagulação.

Research advances in neonatal cerebral sinovenous thrombosis / 中国当代儿科杂志

Neonatal cerebral sinovenous thrombosis (CSVT) is a cerebrovascular disease with a seriously underestimated incidence rate. Due to a lack of specific clinical manifestations and the low sensitivity of conventional imaging examinations, it has long been considered a rare disease in neonates. In recent years, the development of magnetic resonance technology has improved the diagnostic rate of CSVT. This article reviews the research advances in intracranial venous anatomy of neonates and clinical manifestations, imaging features, treatment, and prognosis of CSVT and deep venous thrombosis, in order to improve the understanding and to make correct diagnosis and treatment of neonatal CSVT.

Densidad escanográfica de los senos venosos en pacientes sanos a 2600 metros sobre el nivel del mar / Computed Tomography Density of the Venous Sinuses in Healthy Patients at 2600 Meters Above Sea Level

Introducción: Existe relación entre la densidad escanográfica de las estructuras vasculares medida en unidades Hounsfield (UH) y el hematocrito, el cual se incrementa en las personas que viven a mayor altitud sobre el nivel del mar. Se ha descrito que una densidad de 70 UH es el valor límite superior de normalidad de densidad de los senos venosos en personas sin trombosis venosa que habitan a una altitud de 1.000 m s. n. m.; sin embargo, no se ha establecido esta medida en personas que habitan en altitudes geográficas mayores. En este estudio se determinó dicho valor para personas sin trombosis de senos venosos que viven a 2.600 m s. n. m. Objetivo: Este estudio tiene como propósito caracterizar la densidad normal de los senos venosos en pacientes que habitan en altitudes geográficas de 2.600 m s. n. m. Metodología: Se analizaron las densidades escanográficas de los senos venosos longitudinal superior y de los sitios de unión entre los senos transversos y senos sigmoides de 240 sujetos que habitan a 2.600 m s. n. m., quienes asistieron a la institución entre enero de 2008 y junio de 2016. Estas personas consultaron por cefalea, convulsiones, alteración del estado de conciencia o focalización neurológica. A estos pacientes se les realizó inicialmente un estudio escanográfico de cráneo simple, hemoglobina y hematocrito con diferencia no mayor a 3 días entre el estudio escanográfico y el hemograma, así como estudios confirmatorios de positividad o ausencia de trombosis de senos intracraneales mediante resonancia magnética simple o angiorresonancia. Resultados: La media de UH fue de 59,8 con un rango entre 43,2 y 74,9, para pacientes normales. Se encontró una correlación positiva de 0,49 entre el hematocrito y las UH como es ampliamente conocido en la literatura. Conclusión: El rango en UH de los pacientes sin trombosis de senos venosos es amplio y supera por 4 puntos el informado en la literatura. Esto puede ser atribuible al aumento del hematocrito en individuos que viven a 2.600 m s. n. m. Para establecer normalidad en los pacientes con valores superiores a 70 UH se sugiere tomar en cuenta la simetría de la densidad escanográfica con respecto al seno venoso contralateral, así como evaluar la morfología del borde anterior del seno venoso y la adecuada localización del ROI (Region of Interest) para medir la densidad venosa.

Introduction: There is a relationship between the intravascular density measured in Hounsfield units (HU) in computed tomography (CT) and the hematocrit levels, which increases in people who live above sea level. The expected density in venous sinuses is lower than 70 HU in healthy people living at 1000 meters above sea level. However, this measure has not been established in people living at higher geographic altitudes. In this study, this value was determined for normal people living at 2,600 meters above sea level. Objective: The purpose of this study is to characterize the normal density of the venous sinuses in patients who live at geographical altitudes of 2,600 m above sea level. Methodology: We measured the density on CT at the superior longitudinal venous sinus and at the junction between the transverse sinus and sigmoid sinus of 240 subjects living at 2600 meters above sea level from January 2008 to June 2016. These patients consulted for headache, seizures, altered state of consciousness or neurological focus. Initially, all participants had a non-enhanced CT brain, hemoglobin and hematocrit levels with a difference of no more than 3 days between the CT study and the hemogram, as well as confirmatory studies of positivity or absence of intracranial sinus thrombosis by non-enhanced MR or MRA. Results: The mean HU was 59.8 with a range between 43.2 and 74.9, for normal patients. A positive correlation of 0.49 was found between hematocrit and HU, as is widely known in the literature. Conclusion: We obtained a wide range in the HU of healthy patients compared to the values reported in other papers, and exceeds the highest value by 4 points. This may be attributable to the increased hematocrit in healthy patients living at 2,600 meters above sea level. In order to establish whether patients with venous sinus densities greater than 70 HU have venous thrombosis, our suggestion is to evaluate the symmetry of the density compared to the contralateral venous sinus, as well as to evaluate the morphology and the location of the ROI used to measure venous density.

Trombosis senovenosa cerebral en un recién nacido con mutación MTHFR C677T tratado con enoxaparina / Cerebral sinovenous thrombosis in a newborn with mutation of MTHFR C677T treated with enoxaparin

Resumen: Introducción: La trombosis senovenosa cerebral neonatal (TSVC), es una patología rara y generalmente grave, de la cual se conoce poco sobre los mecanismos fisiopatológicos responsables y, aunque controvertido, se ha sugerido que la trombofilia genética, puede desempeñar un rol en la patogénesis. Debido a los temores de un sangrado intracraneal el tratamiento anticoagulante con heparina de bajo peso mole cular es controvertido. Objetivo: presentar un recién nacido con una trombosis senovenosa cerebral neonatal, discutir los factores de riesgo trombofílico, y el manejo con heparina de bajo peso molecu lar de la trombosis venosa cerebral. Caso Clínico: Recién nacido de término que debutó a los 8 días de vida con convulsiones clónicas, rechazo al pecho más hipoactividad motora. La neuroimagen con RM mostró una TSVC involucrando múltiples senos venosos, un infarto hemorrágico talámico dere cho y congestión venosa de la sustancia blanca frontal. El estudio de trombofilia puso de relieve una mutación homocigota del gen MTHFR C677T. El tratamiento con heparina de bajo peso molecular se asoció a repermeabilización del seno sagital superior a los 23 días de iniciada la terapia. Conclusio nes: La presentación clínica de la TSVC en el neonato es inespecífica, probablemente en relación con la extensión y gravedad de la lesión y el desarrollo de complicaciones asociadas, como infartos he morrágicos venosos intraparenquimatosos o hemorragia intraventricular. Estas complicaciones son detectables mediante Ecografia o Resonancia Magnética, y deben hacer sospechar una TSVC. En esta experiencia el tratamiento anticoagulante mostró ser seguro y prevenir la extensión de la trombosis.

Abstract: Introduction: Neonatal cerebral sinovenous thrombosis (CSNT) is a rare and generally serious con dition about which there is little knowledge of the responsible pathophysiological mechanisms and, although controversial, it has been suggested that genetic thrombophilia may play a role in its patho genesis. Out of concern for intracranial bleeding, the anticoagulant treatment with low-molecular- weight heparin is controversial. Objective: To present a case of a newborn with neonatal CSNT, to analyze the thrombophilic risk factors, and the management of cerebral venous thrombosis with low-molecular-weight heparin. Clinical Case: Full-term newborn who presented at eight days of life breastfeeding rejection, clonic seizures, and locomotor hypoactivity. The MRI neuroimaging showed a CSNT involving multiple venous sinuses, a right thalamic hemorrhagic infarction, and venous congestion in frontal white matter. Thrombophilia study highlighted a homozygous MTHFR C677T mutation. Treatment with low-molecular-weight heparin was associated with repermeabilization of the superior sagittal sinus after 23 days of starting therapy. Conclusions: The clinical presentation of CSNT in the neonate is nonspecific, probably related to the extent and severity of the injury and the development of associated complications, such as venous hemorrhagic infarctions and intraparenchymal or intraventricular hemorrhage. These complications are detected through ultrasound or MRI, and they should make us suspect a CSNT. In this experience, the anticoagulant treatment proved to be safe and prevents thrombus propagation.

Mastoiditis aguda con complicación intracraneal. Reporte de un caso pediátrico / Acute mastoiditis with intracranial complication in a pediatric patient

La mastoiditis aguda es una infección de las celdillas mastoideas, generalmente, secundaria a la progresión de una otitis media aguda. Las bacterias aisladas con más frecuencia en las mastoiditis son Streptococcus pneumoniae, Streptococcus pyogenes y Staphylococcus aureus. La infección mastoidea puede extenderse por contigüidad, afectar a estructuras vecinas y dar lugar a complicaciones intra- o extracraneales. Las más frecuentes son las intracraneales, entre las que se incluyen la meningitis, el absceso cerebeloso o del lóbulo temporal, el absceso epi- o subdural y la trombosis de senos venosos.Se presenta el caso de una niña de 4 años que desarrolló dos complicaciones intracraneales (absceso epidural y trombosis de senos venosos transverso y sigmoideo) a partir de una mastoiditis aguda producida por Streptococus pyogenes

Acute mastoiditis is an infection that affects the mastoid air-cell system, usually due to the progression of an acute otitis media. The bacteria most frequently isolated in acute mastoiditis are Streptococcus pneumoniae, Streptococcus pyogenes and Staphylococcus aureus. The mastoid infection can extend affecting contiguous structures and producing intra or extracranial complications. The most frequent ones are intracranial complications, including meningitis, temporal lobe or cerebellar abscess, epidural or subdural abscess and venous sinus thrombosis.We present the case of a 4-year-old girl who developed two intracranial complications (intracranial epidural abscess and transverse and sigmoid sinus thrombosis) initiated in an acute mastoiditis produced by Streptococcus pyogenes.

Deficiencia de cobalamina C de inicio temprano: presentación de caso clínico / Early onset cobalamin C deficiency: clinical case presentation

Cobalamin C (CblC) deficiency is an autosomal recessive disorder caused by mutations of the MMACHC gene that results in impaired synthesis of the methylcobalamin and adenosylcobalamin co-factors. This brings an impaired conversion of dietary cobalamin and therefore dysfunction of two key enzymes generating hyperhomocysteinemia, hypometionimemia and methylmalonic aciduria. It is the most common intracellular metabolism disorder of cobalamin. The early clinical form is the most frequent disorder and appears as a multisystemic disease with developmental delay, failure to thrive, and ocular, renal and hematological involvement during the first year of life. The thromboembolic events are associated with small vessel involvement, generating thrombotic microangiopathy responsible for renal involvement and pulmonary thromboembolism. The late-onset form is characterized by leukoencephalopathy, psychiatric disorders, subacute degeneration of the spinal cord, and thromboembolic events of medium to large vessels. The treatment currently available increases the survival of the patient and improves growth, neurological manifestations, biochemical, hematological profile and hydrocephalus. We present the neonatal debut of a case of CblC deficiency that appeared as a multisystem disease with initial neurological, ocular and hematological manifestations. The onset of symptoms was acute, a characteristic that is not frequent in CblC. The patient started treatment early, but in an unsatisfactory fashion, which led to increased neurological deterioration. Due to MRI images performed during the evolution of his condition, a superior and transverse sagittal sinus thrombosis, a rare manifestation of the disease, was observed.

La deficiencia de cobalamina C (CblC) es un defecto autosómico recesivo causado por la mutación del gen MMACHC, que resulta en la síntesis alterada de los cofactores metilcobalamina y adenosilcobalamina. Esto trae aparejado una disfunción de dos enzimas claves, lo cual genera hiperhomocisteinemia, hipometionimemia y aciduria metilmalónica. La presentación clínica de la deficiencia de CblC es heterogénea, y varía desde las formas de inicio temprano graves y potencialmente mortales, hasta los fenotipos más leves de inicio tardío. La forma clínica temprana es la más frecuente y se manifiesta como una enfermedad multisistémica, con restricción del desarrollo, restricción del crecimiento y alteraciones oculares, renales y hematológicas durante el primer año de vida. Las manifestaciones tromboembólicas están asociadas con el compromiso de pequeños vasos, lo que causa microangiopatía trombótica, responsable de compromiso renal y de tromboembolismo pulmonar. La forma tardía se caracteriza por leucoencefalopatía, trastornos psiquiátricos, degeneración subaguda de la médula espinal y eventos tromboembólicos de medianos o grandes vasos. El tratamiento disponible actualmente aumenta la supervivencia de la enfermedad y mejora el crecimiento, las manifestaciones neurológicas, el perfil bioquímico y hematológico y la hidrocefalia. Presentamos el debut neonatal de un caso de deficiencia de CblC que se manifestó con compromiso inicial neurológico, ocular y hematológico. El comienzo de los síntomas fue agudo, característica que no es frecuente en la deficiencia de CblC. El tratamiento se inició tempranamente, pero en forma insatisfactoria, con evolución de deterioro neurológico. En la evolución de su enfermedad en las imágenes de resonancia magnética, se puso de manifiesto trombosis de los senos sagital superior y transversos, una rara manifestación de la deficiencia de CblC.

Infarto bitalámico por trombosis venosa cerebral profunda: hallazgos clínicos y radiológicos / Bilateral thalamic infarcts due to deep cerebral venous thrombosis: clinical and radiological findings

La enfermedad cerebrovascular es un problema de salud pública mundial, considerada dentro de las primeras causas de mortalidad. La trombosis venosa cerebral (TVC) es una de sus patologías, que a pesar de ser infrecuente puede llevar a severas complicaciones en el paciente. Es por eso que se presentan dos casos de infartos bitalámicos secundarios a trombosis venosa cerebral profunda, con hallazgos clínicos e imagenológicos inusuales que hicieron aún más difícil su diagnóstico. Debido a las diferentes funciones que posee el tálamo además de la infrecuencia de la trombosis venosa cerebral profunda, la presentación clínica sigue siendo atípica y es usual que se consideren otros diagnósticos al inicio del evento, por lo tanto, consideramos importante proyectar estudios con muestras de mayor tamaño para definir con claridad la clínica y los hallazgos radiológicos de esta patología.

Cerebrovascular disease is a global public health problem and is a major cause of mortality. Cerebral venous thrombosis (CVT) is an uncommon but serious type of cerebrovascular disease. Thus, we report two cases of bilateral thalamic infarcts secondary to deep cerebral venous thrombosis presenting with unusual clinical and radiological features which made diagnosis more difficult. The functional complexity of the thalamus and the uncommon presentation of deep cerebral venous thrombosis lead to atypical clinical manifestations hence various conditions are considered in the differential diagnosis at onset of the event. Therefore, we emphasize the importance of conducting future studies with a larger sample size in order to further elucidate the clinical and radiological characteristics of this condition.

Papilledema with Cerebral Venous Sinus Thrombosis

PURPOSE: We report two patients diagnosed with a sinus thrombosis with papillary edema. CASE SUMMARY: Case 1 was a 27-year-old male who presented with complaints of headache and vomiting for 2 months and blurred vision in both eyes. The best-corrected visual acuity (BCVA) was 1.0 in the right eye and 1.0 in the left eye. A visual field (VF) examination revealed a binocular peripheral VF defect and optical coherence tomography (OCT) and a fundus examination indicated optic disc swelling in both eyes. Brain magnetic resonance imaging (MRI) showed no specific finding but magnetic resonance venography revealed filling defect signs in the transverse sinus and a cerebrospinal fluid examination indicated elevated intracranial pressure (ICP). Case 2 was a 54-year-old female who came to our hospital with suspicion of bilateral optic disc swelling. The BCVA was 0.9 in the right eye and 1.0 in the left eye. A VF examination revealed an inferior-temporal VF defect and blind spot enlargement in the right eye. OCT and a fundus examination showed optic disc swelling in both eyes. Brain MRI showed no specific finding but magnetic resonance venography revealed a decrease in blood flow in the transverse sinus, sigmoid sinus. A cerebrospinal fluid examination indicated elevated ICP. CONCLUSIONS: In the case of optic disc swelling in both eyes, a secondary cause of ICP elevation and the possibility of optic disc swelling due to sinus thrombosis should be considered, and brain MRI and venography are needed to distinguish these possibilities.

Cerebral Venous Sinus Thrombosis with Meningitis and Septicemia due to Haemophilus influenzae Type f in an Immunocompetent Child

Since the implementation of conjugate Haemophilus influenzae serotype b (Hib) vaccine, the rate of infections caused by Hib has dramatically decreased, and the proportion of infections caused by non-type b H. influenzae has increased. Cerebral venous sinus thrombosis (CVST) is rare; however, it should be considered as a potential complication of bacterial meningitis. Herein, we report about a child who developed CVST after being diagnosed with H. influenzae serotype f meningitis.

Massive cerebral venous sinus thrombosis secondary to Graves' disease / 영남의대학술지

Cerebral venous sinus thrombosis (CVT) is a rare cerebrovascular condition accounting for 0.5–1% of all types of strokes in the general population. Hyperthyroidism is associated with procoagulant and antifibrinolytic activity, thereby precipitating a hypercoagulable state that predisposes to CVT. We report the case of a 31-year-old Korean man with massive CVT and diagnosis of concomitant Graves' disease at admission. Early diagnosis and prompt treatment of CVT are important to improve prognosis; therefore, CVT should be considered in the differential diagnosis in all patients with hyperthyroidism presenting with neurological symptoms.

Papiledema como primera manifestación de trombosis de senos venosos en un paciente pediátrico. Reporte de caso y revisión de literatura / Papilledema as an initial finding in venous sinus thrombosis in a child. Case report and literature review

Introducción: la trombosis de senos venosos (TSV) en niños, sin factores de riesgo es una patología rara pero potencialmente fatal. La cefalea es el síntoma principal y muy pocos pacientes se presentan sin este. El papiledema como hallazgo inicial se presenta sólo en el 9% de los pacientes. Presentamos el caso de una menor de 13 años, sin factores de riesgo para TSV, cuya manifestación inicial fue el papiledema en ausencia de cefalea. Objetivo: describir el caso clínico de una paciente menor de edad sin comorbilidades, factores de riesgo ni cefalea, con papiledema como única manifestación de TSV. Diseño de estudio: reporte de caso. Resumen del caso: menor de 13 años, sin antecedentes, con cuadro clínico de 12 horas de evolución de dolor en ojo derecho de instauración progresiva, tipo punzada, asociado a visión doble y un episodio emético. Al examen físico con agudeza visual (AV) 20/20 en ambos ojos, con papiledema; sin hallazgos positivos al examen neurológico ni en otros sistemas. Conclusión: La TSV en pacientes pediátricos sin factores de riesgo ni cefalea es rara. El papiledema es uno de los hallazgos principales de esta patología y en pocas ocasiones es la manifestación inicial. Es importante conocer los síntomas y signos oft almológicos de la TSV, ya que pueden ser el único hallazgo en esta patología.

Background: venous sinus thrombosis (VST) in children, without risk factors, is a rare but potentially fatal pathology. Headache is the main symptom and only few patients present without it. Papilledema as an initial finding occurs only in 9% of patients. We present the case of a 13 years old girl, without risk factors for VST, with papilledema as initial manifestation in the absence of headache. Objective: to describe a clinical case of with venous sinus thrombosis without comorbidities or risk factors, who had papilledema as first symptom. Study design: case report and literature review. Case summary: 13 years old girl, without medical history, with a clinical picture of 12 hours of right eye progressive pain, prick type, associated with double vision and an emetic episode. Physical examination with visual acuity (VA) 20/20 in both eyes and papilledema; without positive findings in the neurological examination or in other systems. Conclusion: venous sinus thrombosis in pediatric patients without risk factors or headache is rare. Papilledema is one of the main fi ndings of this pathology and in few cases it is the initial manifestation. It is important to know the symptoms and ophthalmological signs of VST because it could be the only finding in this pathology.

Cerebral Venous Sinus Thrombosis in a Child with Idiopathic Nephrotic Syndrome: a case report / Trombose Venosa Cerebral na apresentação de Síndrome Nefrótica Pediátrica: caso clínico

ABSTRACT Complications are rare in pediatric cases of idiopathic nephrotic syndrome (NS). Thromboembolism ranks among the most uncommon and difficult complications to diagnose, particularly in the first episode of NS, since clinical signs might be unspecific. This report describes the case of a 5-year-old girl with NS for the first time presenting with severe hypoalbuminemia (< 2g/dL). The patient responded poorly to therapy with corticosteroids. On day 8 of hospitalization she started having headaches and vomiting; she did not present hemodynamic alterations, fever or exanthems, and her neurological parameters were normal. The patient was suspected for intracranial hypertension, and computed tomography scans revealed she had cerebral venous sinus thrombosis (CVST). She was started on anticoagulants and showed clinical signs of improvement. The patient had no evident prothrombotic risk factors. She had three other episodes since she was diagnosed, one in which her plasma antithrombin level was low. Although antithrombin levels were normal in her first episode, she was tested after the resolution of proteinuria. The low levels of antithrombin seen in the first recurrence might have mirrored the initial drop in plasma antithrombin levels, an idea supported by the severe hypoalbuminemia she had when diagnosed. This severe manifestation of acquired thrombophilia might be in the origin of CVST. This report presents a rare case of thromboembolic complication in a pediatric patient with NS. The patient progressed well since she was started on anticoagulants. Although she did not present any evident risk factors at first, the development of her case indicated that severe acquired thrombophilia might have worked as the pathophysiological mechanism leading to CVST.

RESUMO A Síndrome Nefrótica (SN) idiopática em crianças pode, raramente, complicar-se. O tromboembolismo é uma das complicações mais raras, principalmente no primeiro episódio, e de diagnóstico mais difícil, uma vez que a clínica pode ser inespecífica. Descrevemos o caso de uma criança de 5 anos com episódio inaugural de SN, destacando-se hipoalbuminemia inicial grave (< 2g/dL). Apresentou fraca resposta inicial à corticoterapia e, após 8 dias de internamento, iniciou quadro de cefaleias e vômitos, sem alterações hemodinâmicas, sem febre, sem exantema e com exame neurológico normal. Perante a suspeita de hipertensão intracraniana, foi realizada TC-CE, que mostrou trombose venosa cerebral (TVC). Foi então iniciada terapêutica anticoagulante com posterior boa evolução clínica. Trata-se de uma criança sem fatores de risco pró-trombóticos evidentes. Desde o diagnóstico, teve 3 recaídas, uma das quais com níveis baixos de antitrombina, que no episódio inaugural eram normais, apesar de avaliados já numa fase não proteinúrica. Suspeita-se, assim, que esse déficit plasmático em antitrombina na recaída poderá mimetizar a queda plasmática inicial, hipótese também apoiada pela hipoalbuminemia grave ao diagnóstico. Esta trombofília grave adquirida poderá ter sido mecanismo etiológico para a trombose venosa cerebral. O interesse deste caso prende-se com a raridade de complicações tromboembólicas na SN Pediátrica, ainda mais raras no episódio inaugural. Nesse caso, a boa evolução foi possível após a associação da terapêutica anticoagulante. Embora sem fatores de risco iniciais evidentes, a evolução do caso permitiu a suspeita de uma trombofília adquirida grave como mecanismo fisiopatológico do tromboembolismo cerebral.

Trombosis de Senos Venosos, experiencia en un hospital pediátrico en Buenos Aires, Argentina / Venous sinus thrombosis: Experience at a pediatric hospital in Buenos Aires, Argentina

Introducción: La trombosis de senos venosos cerebrales (TSVC) es infrecuente en pediatría. Está asociada a condiciones como infecciones, deshidratación, fallo renal, traumatismo de cráneo, neoplasias, trastornos hematológicos, etc. Cefalea, vómitos, alteración del sensorio y hemiparesia son los síntomas más frecuentes. El diagnóstico es confirmado por TC con angio y/o RM con angio. La anticoagulación es el tratamiento de elección. Los pacientes suelen evolucionar favorablemente. Materiales y Métodos: Estudio descriptivo observacional de pacientes con TSVC atendidos en el Hospital Garrahan desde 2010 a 2017. Las variables registradas fueron: edad, sexo; manifestaciones clínicas, factores de riesgo; estudios diagnósticos, tratamiento y evolución. Resultados: Se describen 34 pacientes con TSVC. Los adolescentes fueron el grupo mayor. La cefalea fue el síntoma más frecuente. Angio TC, RM y/o angio RM confirmaron el diagnóstico; los senos transverso, sagital superior y sigmoideo fueron los más comprometidos. 21 pacientes tenían patología oncológica y 14 procesos infecciosos. El tratamiento de elección fue la anticoagulación. Tuvieron buena evolución el 82%. Conclusiones: Debemos sospechar esta entidad en dos grupos: el primero formado por lactantes y pre-escolares con patología infecciosa; y un segundo integrado por escolares y adolescentes con patología oncológica, especialmente aquellos que reciben L-ASA.Es importante resaltar el valor de la TC y angio TC para hacer diagnóstico oportuno, resultando accesible las 24 horas en el hospital

Introduction: Cerebral venous sinus thrombosis (CVST) is uncommon in children. CVST is associated with conditions, such as infections, dehydration, renal failure, head trauma, cancer, and hematological disorders. Headache, vomiting, sensory alterations, and hemiparesis are the most common symptoms. Diagnosis is confirmed by angio CT and/or MRA. Anticoagulation is the treatment of choice. Outcome is generally good. Material and Methods: An observational, descriptive study of patients with CVST seen at Garrahan Hospital between 2010 and 2017. The following variables were recorded: age, sex; clinical manifestations, risk factors; diagnostic studies, treatment, and outcome. Results: 34 patients with CVST were studied. Most patients were adolescents. Headache was the most common symptom. Angio CT, MRI, and/or MRA confirmed the diagnosis; the transverse, superior sagittal, and sigmoid sinuses were most frequently affected. Of the patients, 21 had oncological disease and 14 infections. Anticoagulation was the treatment of choice. Outcome was good in 82%. Conclusions: CVST should be suspected in the following two groups: A first group consisting of infants and preschool children with infections and a second group of school-age children and adolescents with cancer, especially those receiving L-ASA. It is important to highlight the role of CT and angio CT for early diagnosis as the study is available day and night at the hospital.