Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review.

BACKGROUND: Cerebral venous sinus thrombosis (CVST) is a rare but potentially life-threatening subtype of stroke. Prompt and appropriate anticoagulation is crucial for improving the prognosis of CVST and preventing its recurrence. Identifying the underlying cause of CVST is decisive for guiding anticoagulant selection and determining treatment duration. CASE PRESENTATION: A 50-year-old man presented with a 35-day history of headache, nausea, vomiting, and blurred vision. Digital subtraction angiography performed at another facility revealed CVST. A contrast-enhanced black-blood MRI at our center confirmed the diagnosis, which was supported by a high intracranial pressure of 330mmH2O. Laboratory tests showed elevated leukocytes and platelet counts, raising suspicion of an underlying myeloproliferative neoplasms (MPNs). A bone marrow biopsy demonstrated increased megakaryocytes and granulocytes, and genetic testing identified the presence of the Janus kinase 2 V617F (JAK2 V617F) mutation, leading to a diagnosis of pre-primary myelofibrosis (pre-PMF). During hospitalization, anticoagulation with nadroparin calcium and fibrinolytic therapy were initiated. Upon discharge, rivaroxaban and aspirin were prescribed to prevent CVST recurrence and arterial thrombosis. CONCLUSION: This case highlights the importance of recognizing dynamic changes in routine blood tests that may link CVST to underlying hematological disorders. The JAK2 mutation is not only associated with MPNs but also increases the risk of thrombosis, including CVST. Further investigation is warranted to better understand the mechanisms by which JAK2 mutations contribute to thrombosis and to explore the potential benefits of JAK2 inhibitors in reducing this risk.

Evolution and advances in endovascular mechanical thrombectomy of cerebral venous sinus thrombosis.

Cerebral venous sinus thrombosis (CVST) is a rare type of stroke and standard treatment involves anticoagulation. However, for some special CVST patients who are ineligible for anticoagulation or refractory to conservative treatment, endovascular treatment (EVT) may be an effective option. Mechanical thrombectomy (MT) is a commonly used treatment. Compared with anticoagulation treatment alone, MT may result in additional procedure-related complications, however, many studies have shown that it has a high rate of vessel recanalization and lower incidence of related complications in arterial large vessel occlusion stroke. In addition, the applicability of MT in children, patients with deep cerebral thrombosis, and patients with bleeding before treatment has been reported. MT combined with intravascular thrombolysis (IVT) and other multimodal therapeutic strategies, also has a good curative effect, and further research is needed to compare and optimize different treatment strategies. Owing to the low incidence of CVST, randomized controlled clinical trials with a large sample size to explore the safety and effectiveness of MT are scarce. In addition, devices specifically designed for cerebral venous sinus and effective endovascular therapies are currently not well-established. This article summarizes different endovascular instruments and multimodal therapies for cerebral venous thrombosis. We also discuss the limitations, prospects, prognostic factors, and applications in special cases of interventional thrombectomy.

Viber Snakebite Presenting with Cerebral Venous Thrombosis: A Very Rare Case Report from Somalia.

Cerebral sinus venous thrombosis (CSVT) is an uncommon and potentially life-threatening neurological disorder that is often missed because its clinical and radiological symptoms are not specific. Snake bites are a rare cause of cerebral venous sinus thrombosis that must be recognized and treated promptly to improve survival. Here, we present a case of a 30-year-old male patient who had cerebral venous thrombosis after snake bite in the rural area of southern Somalia. After close monitoring with anticoagulation, the condition of the patient improved and discharged from the hospital with full of consciousness. There are only a few cases reported in the literature of snake bites causing cerebral venous thrombosis.

Deciphering changes in the incidence of hemorrhagic stroke and cerebral venous sinus thrombosis during the coronavirus disease 2019 pandemic: A nationwide time-series correlation study.

INTRODUCTION: Hemorrhagic stroke and cerebral venous sinus thrombosis (CVST) are associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and vaccination. We aimed to investigate changes in the incidence of hemorrhagic stroke and CVST in South Korea before and during the coronavirus disease 2019 pandemic and the factors associated with these changes. MATERIALS AND METHODS: We conducted a nationwide time-series study using population-based databases between 2007 and 2022. The real-world and forecasted incidences of acute non-traumatic subarachnoid hemorrhage (SAH), intracerebral hemorrhage (ICH), and CVST during the pandemic period (2020-2022) were estimated and compared with the pre-pandemic period (2007-2019). The prevalence of conventional risk factors was measured using time-series data. Finally, a time-series correlation analysis was performed to examine the temporal association between conventional risk factors, SARS-CoV-2 infection, and SARS-CoV-2 vaccination. RESULTS: The incidence of hemorrhagic stroke (SAH and ICH) was lower during the pandemic than during the pre-pandemic period. This observed decrease was associated with a reduction in the prevalence of conventional risk factors but not with SARS-CoV-2 infection or vaccination. The incidence of CVST was higher during the pandemic than during the pre-pandemic period, which may be temporally related to SARS-CoV-2 vaccination (Pearson correlation coefficient [r] = 0.349, P = 0.031). CONCLUSION: We report reassuring evidence of hemorrhagic stroke associated with SARS-CoV-2 infection and vaccination. However, awareness of CVST may be required for future vaccine rollouts and SARS-CoV-2 outbreaks.

Rituximab induced cerebral venous sinus thrombosis in a patient with anti-N-methyl-D-aspartate receptor-antibody encephalitis: a case report and review of literature.

BACKGROUND: Cerebral venous sinus thrombosis has not been reported in anti-N-methyl-D-aspartate receptor-antibody encephalitis in the absence of an underlying thrombotic state while rituximab induced cerebral venous sinus thrombosis is rarely reported. We report a patient with anti-N-methyl-D-aspartate receptor-antibody encephalitis without a prothrombotic state who developed cerebral venous sinus thrombosis following rituximab treatment. CASE PRESENTATION: A 15-year-old Sri Lankan girl who had been in remission following an episode of anti-N-methyl-D-aspartate receptor-antibody encephalitis 2 years ago, presented with a relapse of anti-N-methyl-D-aspartate receptor-antibody encephalitis characterized by recurrent seizures, mutism, and cognitive abnormalities. Since response was inadequate to first-line immunotherapy, she was administered four doses of rituximab at weekly intervals. Two days after the fourth dose, she developed increasing headaches, and her cranial magnetic resonance venogram confirmed the development of cerebral venous sinus thrombosis. Screening for prothrombotic states were negative. She made an unremarkable recovery following anticoagulation. CONCLUSION: This case highlights the occurrence of the rare but serious complication of cerebral venous sinus thrombosis following rituximab in the context of anti-N-methyl-D-aspartate receptor-antibody encephalitis and informs the clinician to be wary of new onset headache in patients with anti-N-methyl-D-aspartate receptor-antibody encephalitis treated with immunotherapy.

Pregnancy-related intracranial venous sinus thrombosis secondary to cryptococcal meningoencephalitis: a case report and literature review.

BACKGROUND: Cerebral venous sinus thrombosis (CVST), a serious cerebrovascular and neurological emergency, is common in pregnant individuals and accounts for approximately 0.5-1.0% of all cerebrovascular diseases. However, CVST with cryptococcal meningoencephalitis in immunocompetent pregnant patients is rare. CASE PRESENTATION: A 30-year-old woman who was 33 weeks pregnant presented with recurrent dizziness, headache, and vomiting as the main clinical manifestations, all of which were initially nonspecific. After assessment of the cerebrospinal fluid, skull computerized tomography, magnetic resonance imaging, and other laboratory and imaging examinations, the patient was diagnosed with secondary pregnancy-related CVST with cryptococcal meningoencephalitis. Despite receiving potent anticoagulant and antifungal treatment, the patient's condition deteriorated, and the patient's family opted to cease treatment. CONCLUSIONS: We present a rare case of CVST with cryptococcal meningoencephalitis in an immunocompetent pregnant patient. The difficulty of diagnosing and treating secondary pregnancy-related CVST caused by cryptococcal meningoencephalitis, as well as the great challenges faced at present are highlighted. One crucial lesson from the present case is that when clinical and imaging signs are unusual for CVST during pregnancy, it is essential to account for the possibility of other central nervous system (CNS) diseases, such as CNS infections with Cryptococcus, which may cause CVST.

Cerebral Sinus Venous Thrombosis in Pediatric Acute Lymphoblastic Leukemia: Incidence, Clinical Characteristics, and Long-term Neurologic Outcomes.

OBJECTIVE: To describe the incidence, clinical characteristics, and long-term outcomes of cerebral sinus venous thrombosis in children with acute lymphoblastic leukemia. METHODS: This was a retrospective cohort study comprising pediatric patients with newly diagnosed or first-relapse acute lymphoblastic leukemia who developed cerebral sinus venous thrombosis at Texas Children's Hospital from 2002 to 2019. RESULTS: Nineteen cases (1.7%) with cerebral sinus venous thrombosis were identified in all pediatric patients with acute lymphoblastic leukemia (n = 1129). Increased risk of cerebral sinus venous thrombosis was observed with age >10 years (P = .006). Twelve cases (63%) occurred during the induction, 4 (21%) during maintenance, and 3 (16%) during the consolidation phases of leukemia therapy. Seizures (10/19) and headaches (9/19) were the most common presenting symptoms. After treatment with anticoagulation therapy, we observed full resolution of thrombosis in 10 (53%) and partial resolution in 8 patients (42%). Long-term neurologic outcomes at follow-up in the 14 patients who survived included normal neurologic examinations (n = 10), epilepsy (n = 3), and focal neurologic deficits (n = 2). The death occurred in 5 individuals. CONCLUSION: Cerebral sinus venous thrombosis is a notable complication of pediatric acute lymphoblastic leukemia therapy. Older age (>10 years) was a risk factor for developing cerebral sinus venous thrombosis. Despite variable patient presentations and treatment durations, favorable clinical outcomes were observed in most patients after the treatment with anticoagulation for a minimum of 3 months.

Anticoagulation strategies in patients with coexisting traumatic intracranial hematomas and cerebral venous sinus thrombosis: an observational cohort study.

PURPOSE: Post-traumatic cerebral venous sinus thrombosis (ptCVT) is a rare but serious complication of traumatic brain injury (TBI). Managing ptCVT is challenging due to the concurrent risk of traumatic intracranial hematoma (ICH) expansion. Limited data exists on the safety and efficacy of anticoagulation therapy (ACT) in these cases. METHODS: This single-center observational cohort study included adult TBI patients with concurrent ICH and ptCVT. Low-molecular-weight heparin (LMWH) or heparin infusion was used to treat all ptCVTs based on institutional protocols. The outcomes of interest were hemorrhagic and thrombotic complications. RESULTS: Out of 1,039 TBI-patients admitted between 2006 and 2020, 32 met the inclusion criteria. The median time from injury to ptCVT diagnosis was 24 h. ACT was initiated at a median of 9 h after ptCVT diagnosis. Patients were administered either heparin infusion (n = 8) or LMWH at dosages ranging from 28 to 72% of the therapeutic level (n = 24). There were no hemorrhagic complications, even in patients receiving LMWH at ≥ 50% of the therapeutic dose. Thrombotic complications occurred in 3 patients (9.4%) - two cases of thrombus progression and one venous infarct. The patients who developed thrombotic complications differed from those who did not by having a 17-h delay in ACT initiation after diagnosis or by receiving an initial LMWH dose at 28% of the therapeutic level. CONCLUSION: LMWH at approximately 50% of the therapeutic level was effective for managing ptCVT associated with TBI in our retrospective dataset, with no risk of hematoma expansion. Prospective trials are warranted to confirm these results.

Catastrophic antiphospholipid syndrome: a case report and literature review.

Catatrophic antiphospholipid syndrome (CAPS), a rare variant of antiphospholipid syndrome (APS), is associated with rapid multiorgan failure. While APS is associated with single medium-to-large blood vessel occlusions, CAPS is most often associated with several, concurrent vascular occlusions of small vessels, commonly of the kidneys, heart, skin and brain. We present a case of a 21-year-old female patient with a history of immune thrombocytopenia purpura and APS, who eventually developed concurrent cerebral venous sinus thrombosis, diffuse alveolar haemorrhage, renal thrombotic microangiopathy, and a necrotic, vasculitic wound on her forearm. Despite hospitalisation and treatment, her condition worsened and the patient eventually died after succumbing to suspected CAPS.

Risk factors for acute symptomatic seizure in children with cerebral sinovenous thrombosis: Experience from a tertiary center.

OBJECTIVE: To investigate the risk factors for acute symptomatic seizure (ASS) in children with Cerebral Sinovenous Thrombosis (CSVT) and to evaluate the effect of ASS on outcome. METHODS: Cross-sectional, single-center, hospital-based retrospective analysis of 42 children with neuroimaging-confirmed CSVT recorded between December 2009 and January 2023. ASS was defined as a seizure occurring within 7 days after CSVT. Predictors for ASS were analyzed by univariate and multivariate logistic regression. Functional outcomes were evaluated using the Pediatric Stroke Outcome Measure (PSOM). RESULTS: The average age of the 42 patients included in the study sample was 105.36 ± 63.1 months. Almost one-third (28.6 %) of patients with CSVT developed ASS. In univariate analysis, factors associated with seizure risk were young age, low Glasgow Coma Scale at admission, long hospital stay, headache, change of consciousness, focal neurological findings, cerebral hemorrhage, motor deficit and high D-dimer level (p=0.018, p<0.001, p= 0.016, p= 0.001, p=0.014, p<0.001, p<0.001, p=0.019 and p=0.013, respectively). In multivariate analysis young age, focal neurological findings and D-dimer levels were potential predictors of ASS (p=0.004, p=0.003, p=0.036, respectively). Receiver operating characteristic (ROC) analysis for D-dimer diagnostic accuracy in patients with CSVT revealed D-dimer > 498 ng/mL (AUC=0.743). In both cohorts, PSOM scores at last follow-up were worse in those with acute seizures compared to those without (p<0.001). CONCLUSION: Acute seizures occurred in approximately one-third of our cohort. Young age, focal neurological findings, and high D-dimer levels are potential predictors of ASS in children. Children with ASS had worse outcomes than those without.

Draining Vein Thrombosis of Developmental Venous Anomaly in Sickle Cell Trait Patients: A Case Report and a Literature Review.

INTRODUCTION: Cerebral venous sinus thrombosis (CVST) is a rare but serious condition in both adults and children. Risk factors include thrombophilias, dehydration, and certain inherited conditions like sickle cell trait (SCT). We present a case of CVST in a pediatric patient with SCT to highlight key considerations in diagnosis and management. CASE PRESENTATION: A 14-year-old male with SCT presented with worsening headache and vomiting after prolonged sun exposure and dehydration during athletic camp. Imaging revealed right occipital hemorrhage, hydrocephalus, right CSVT, and bilateral cerebellar developmental venous anomalies. Hypercoagulability testing was normal. Diagnostic evaluation included computed tomography, magnetic resonance imaging, MR venography (MRV), and hypercoagulability testing. The patient was treated with an external ventricular drain, platelet transfusion, and anticoagulation. Management also involved hydration, platelet transfusion, supportive care, and multidisciplinary follow-up. Follow-up MRV showed recanalization. CONCLUSION: This case highlights SCT as a potential CVST risk factor. Timely recognition, evaluation of precipitants like dehydration, supportive care including anticoagulation, and multidisciplinary management are important. An individualized approach is needed to balance thrombosis recurrence and bleeding risks. Patients with SCT require education on risks and prompt evaluation of neurological symptoms to allow early diagnosis and care of CVST.

Perfusion MRI in Cerebral Venous and Sinus Thrombosis.

BACKGROUND AND PURPOSE: Cerebral venous and sinus thrombosis (CVST) leads to perfusion abnormality in the brain. Our aim was to assess perfusion abnormalities in the center and periphery of the parenchymal lesion in CVST patients and correlate with the clinical outcome. MATERIALS AND METHODS: Dynamic susceptibility contrast (DSC) perfusion imaging was performed in patients with CVST. Relative cerebral blood flow (rCBF), relative cerebral blood volume (rCBV), and mean transit time (MTT) values were obtained in the center and periphery of the parenchymal lesion. RESULTS: A total of 30 consecutive patients of CVST were included in the study. Parenchymal lesion was present in 21 (70%) patients. In rest 9, perfusion map was showing some abnormality although conventional MRI was normal. Mean rCBV and MTT were increasing from periphery of the lesion to the center (rCBV 69.93 ± 29.79 at periphery (PL2) to 92.49 ± 32.07 at center of the lesion and 69.19 ± 25.52 at normal appearing contralateral brain parenchyma (NABP). MTT 11.83 ± 3.76 at periphery (PL2) to 15.27 ± 5.49 at center of the lesion and 10.63 ± 3.37 at NABP). rCBV and MTT from abnormal perfusion areas from 9 patients without parenchymal abnormalities are 92.89 ± 17.76 and 15.92 ± 3.66 respectively. CONCLUSION: There is an increasing trend of MTT and rCBV from periphery to center of the parenchymal lesion. MTT is the most consistent parameter to be abnormal in patients of CVST even in patients without parenchymal lesion. Residual neurological deficit was found in patients with increased rCBV and having large hemorrhagic infarct.

Sex differences in clinical profile and risk factors of cerebral venous sinus thrombosis at a high-altitude area: A 10-year retrospective cross-sectional study.

Cerebral venous sinus thrombosis (CVST) is an uncommon disorder with an increased mortality risk. Data on the sex-specific clinical profile and related factors can be practical in clinical diagnosis and management. Thus, we aimed to assess CVST characteristics in Shahrekord, the most elevated city among the centers of the provinces of Iran, referred to as the Roof of Iran. In this retrospective cross-sectional study, we reviewed the hospital records of 127 CVST patients between April 2013 and June 2023 to analyze the demographic characteristics, clinical profile, disease outcomes, and risk factors. STROBE guidelines were used to report this study. Females comprised 65.3% of the study. Females' age was almost equal to male patients (37.51 ± 13.95 years vs 38.09 ± 16.18 years, P = .832), and more than half of the patients (59.1%) were married. Clinical characteristics showed no significant difference between the sexes. In contrast to males, females had multifarious risk factors. However, the main risk factors for both sexes were CVST and hypertension. Most patients had 1 sinus affected (55.9%), and the location of thrombosis was mainly in the right transverse sinus in males (38.63%) and superior sagittal sinus in females (33.73%). However, those with more than 2 affected sinuses were mostly women. Regarding radiological findings, sinusitis was significantly seen in men (18.18% vs 3.61%). Among laboratory data, females significantly had higher erythrocyte sedimentation rate levels than males (21.66 ± 24.39 vs 9.60 ± 8.55). This study indicates that among CVST patients, men have significantly higher occurrences of sinusitis, and higher levels of erythrocyte sedimentation rate were observed in women. However, no other significant differences were found. More extensive studies are essential to fully comprehend the sex-specific aspects of CVST.

Haemorrhagic intracranial complications associated with vaccine-induced thrombocytopenia or central venous thrombosis after COVID-19 vaccination: postulated underlying mechanisms with literature and case review.

Despite the unequivocal medical and social advantages of introducing vaccines against the novel coronavirus SARS-CoV-2, there were also some concerns regarding possible post-vaccination adverse events. Most of these are mild. But in rare cases, severe neurological symptoms including ischaemic stroke, intracranial haemorrhage (ICH), cerebral venous and sinus thrombosis (CVT), and thrombosis with thrombocytopenia (TTS) have been observed. Literature data suggests that thrombosis with thrombocytopenia was the major underlying cause of the ICH; dural venous sinuses/cerebral veins were indicated as the primarily affected sites of thrombosis. Our review confirms the previously documented suspicion that CVT and TTS are most likely to occur following vector-type, rather than mRNA, vaccine administration. The postulated mechanism of TTS is similar to heparin-induced thrombocytopenia (HIT) both clinically and serologically. Although ICH and VITT are very rare side effects of the COVID-19 vaccine, for patients with risk factors for thrombosis (e.g. pregnancy), physicians should carefully consider the benefit/risk ratio of vaccination.

Clinical, Etiological, and Imaging Study of Patients with Cerebral Sinus Venous Thrombosis in a Tertiary Care Hospital.

AIM OF THE STUDY: To study the clinical profile, etiology, and imaging features of subjects presenting with cerebral sinus venous thrombosis (CVST) and to correlate the clinical findings with radiological findings. MATERIALS AND METHODS: The study included 120 patients admitted with the diagnosis of CVST to Stanley Medical College and Hospital, Chennai. The study included patients of all age-groups presenting with cerebral venous thrombosis. The diagnosis was confirmed by imaging studies. RESULTS: The mean age of presentation is 24.4, predominantly males. Headache (90.8%) was the most common presentation, followed by seizures (25%), and paresis (12%). The superior sagittal sinus (SSS) is the most common sinus involved, with multiple sinuses involved in 47% of patients. Magnetic resonance imaging (MRI) brain with magnetic resonance venography (MRV) is the investigation of choice. The most common risk factor for CSVT was alcohol intake, especially in males, and females, anemia, pregnancy, usage of oral contraceptive (OC) pills, and puerperium were the common risk factors. The causes of CSVT in this study were hyperhomocystenemia in 8%, anemia in 13%, and prothrombotic state in 6%. CONCLUSION: Cerebral sinus venous thrombosis is a cause of stroke in young individuals. Even though uncommon, it is underdiagnosed because of its extremely varied clinical presentation. The correct diagnosis of CSVT relies on a high index of suspicion and the availability of advanced imaging like MRI with MR venography.

Generative Pre-trained Transformer for Pediatric Stroke Research: A Pilot Study.

BACKGROUND: Pediatric stroke is an important cause of morbidity in children. Although research can be challenging, large amounts of data have been captured through collaborative efforts in the International Pediatric Stroke Study (IPSS). This study explores the use of an advanced artificial intelligence program, the Generative Pre-trained Transformer (GPT), to enter pediatric stroke data into the IPSS. METHODS: The most recent 50 clinical notes of patients with ischemic stroke or cerebral venous sinus thrombosis at the UTHealth Pediatric Stroke Clinic were deidentified. Domain-specific prompts were engineered for an offline artificial intelligence program (GPT) to answer IPSS questions. Responses from GPT were compared with the human rater. Percent agreement was assessed across 50 patients for each of the 114 queries developed from the IPSS database outcome questionnaire. RESULTS: GPT demonstrated strong performance on several questions but showed variability overall. In its early iterations it was able to match human judgment occasionally with an accuracy score of 1.00 (n = 20, 17.5%), but it scored as low as 0.26 in some patients. Prompts were adjusted in four subsequent iterations to increase accuracy. In its fourth iteration, agreement was 93.6%, with a maximum agreement of 100% and minimum of 62%. Of 2400 individual items assessed, our model entered 2247 (93.6%) correctly and 153 (6.4%) incorrectly. CONCLUSIONS: Although our tailored generative model with domain-specific prompt engineering and ontological guidance shows promise for research applications, further refinement is needed to enhance its accuracy. It cannot enter data entirely independently, but it can be employed in tandem with human oversight contributing to a collaborative approach that reduces overall effort.

Meningoencephalitis-like presentation of cerebral venous sinus thrombosis and long-term complications at 5-year follow-up.

A 21-year-old gentleman presented with low responsiveness and an unwitnessed tonic-clonic seizure. A 3-day history of fevers, headaches, and poor sleep was reported. He was initially treated for meningoencephalitis. Subsequently, he developed an erythematous rash over the face and chest. He had three generalised tonic-clonic seizures and his Glasgow Coma Score (GCS) deteriorated to 8 out of 15 requiring intubation and ventilation, and antiepileptics. Lumbar puncture (LP) results were unremarkable; however, the computed tomography (CT) head concluded bilateral haemorrhages and commented on the possibility of cerebral venous sinus thrombosis (CVST). Computed tomography venogram (CTV) confirmed CVST in the superior sagittal sinus, cortical vein and left transverse sinus. Repeat CT head revealed no new changes. Clinically, he exhibited residual left-sided weakness following stroke secondary to CVST. The patient was discharged with lifelong warfarin due to unprovoked CVST. He re-presented ten months later with persistent headaches. Clinical review noted bilateral papilloedema and he required LP to relieve raised intracranial pressure (ICP). In a 5-year follow-up, he continues to have raised ICP and associated headaches requiring further LPs. He continues to take warfarin, levetiracetam and topiramate, for headaches. This is an atypical case of CVST presenting initially with meningoencephalitis-like symptoms, demonstrating diverse clinical presentation. Ergo, this encourages an early multidisciplinary approach in presentations of headaches and seizures as clinical suspicion for CVST is high. Ultimately, this will appropriately identify patients for neuroimaging with computed tomography/magnetic resonance venogram. Furthermore, 5-year follow-up is presented in this case highlighting the importance of long-term follow-up in view of variable long-term complications that remain difficult to predict.

Cerebral venous sinus thrombosis and SCN1A, a novel association?

BACKGROUND: Cerebral venous sinus thrombosis (CVST) is a rare cause of stroke. Acquired and inherited prothrombotic conditions are the most common risk factors for CVST. Sometimes, an etiology is not found. Wide utilization of next generation sequencing technologies in clinical practice may lead to identification of risk factors other than those classically associated with CVST. METHOD AND RESULTS: This retrospective clinical-laboratory observational study has a reference patient who presented with CVST as an adolescent. Work up for prothrombotic conditions showed high homocysteine level secondary to homozygosity for a common polymorphism, c.677 C > T in the methylenetetrahydrofolate reductase (MTHFR) gene. His older unaffected brother has a similar MTHFR genotype and high homocysteine. The whole exome sequencing revealed a likely pathogenic variant in the sodium voltage gated channel, alpha subunit 1(SCN1A) gene. CONCLUSION: CVST is a multifactorial disease. Prothrombotic conditions are the most common risk factors for CVST. High homocysteine due to the common MTHFR polymorphisms was previously attributed to various thrombotic conditions including CVST. Although high homocysteine due to MTHFR polymorphism may be a contributing factor, additional risk factors such as blood flow abnormalities during SCN1A related seizures may be needed for thrombosis.

Clinical and laboratory characteristics and outcome predictors of cerebral venous sinus thrombosis in a referral neurology hospital in Bangladesh.

OBJECTIVE: We aimed to describe clinical and laboratory characteristics and determine the predictors of outcome in patients with cerebral venous sinus thrombosis. METHODS: This prospective study was conducted over 2 years among hospitalized patients with cerebral venous sinus thrombosis. Patient outcome was assessed using the Modified Rankin Scale (mRS) score at 3 months. Outcome predictors were identified using logistic regression analysis. RESULTS: Eighty-one patients were included in this study. The median mRS outcome at 3 months was 1 (interquartile range 1-3). Poor outcomes were observed in 27.2% of patients, and the mortality rate was 9.8%. Factors associated with poor outcomes were age >60 years (relative risk [RR] 5.1), hemiparesis (RR 5.4), altered level of consciousness (RR 7.1), and transverse sinus involvement (RR 1.1). In general, mRS scores were not associated with D-dimer levels (RR 2.4). However, older patients with elevated D-dimer levels showed a significant association with poor outcomes (1.6) according to mRS scores. CONCLUSION: Older age, hemiparesis, and altered consciousness levels were independent predictors of poor outcomes in patients with cerebral venous sinus thrombosis. High D-dimer level showed no association with functional disability, except in older patients.

Recurrent haemorrhagic venous infarct in a patient with sickle cell disease.

Cerebrovascular accidents are uncommon but devastating complications of sickle cell disease (SCD). Notably, cerebral sinovenous thrombosis is rarely reported in SCD and poses a therapeutic dilemma regarding anticoagulation. Herein, we describe a challenging case of a patient with sickle thalassaemia admitted to the hospital with recurrent haemorrhagic infarct secondary to cerebral sinus thrombosis. The patient was successfully treated with anticoagulation without neurological deficit. No embolic or other thrombotic aetiology was found, and the stroke was presumed due to sickle cell disease, leading to a hypercoagulable state. Our case report highlights the value of early recognition of this rare but potentially life-threatening condition in SCD, considers other options of anticoagulation therapy and emphasises the importance of close multidisciplinary follow-up particularly post hospital discharge.