case report in neurology

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is a newly described hemato-inflammatory acquired monogenic entity that presents in adulthood. One of the main features of VEXAS syndrome is a high venous thromboembolism (VTE) burden, with approximately 30-40% experiencing lower extremity deep vein thrombosis and a lower incidence of pulmonary embolism at approximately 10%. To date, VEXAS syndrome has not been associated with rarer forms of VTE such as cerebral sinus vein thrombosis (CSVT) and Budd-Chiari syndrome, which are well-recognized vascular manifestations in Behcet's disease, another autoinflammatory vasculitic disease...

BACKGROUND: Catastrophic antiphospholipid syndrome (CAPS) is a multi-system autoimmune disease characterized by extensive thrombosis. Pediatric CAPS is extremely rare and associated with a high mortality rate, especially when midbrain infarction is involved. Hence, early diagnosis and prompt initiation of appropriate treatment for CAPS complicated by midbrain infarction are of utmost importance in achieving favorable outcomes. CASE PRESENTATION: In this report, we present the case of a 14-year-old girl who presented with neurological symptoms and digestive system infection and was initially diagnosed with an "intracranial infection"...

Intra-operative navigation has revolutionized spinal instrumentation. The O-arm (a mobile X-ray system; Medtronic, Minneapolis, MN) is uniquely capable of enabling visualization of the spine in axial planes. The application of this technology is wide yet underutilized in terms of its capacity to image spinal vascular anatomy. We completed a retrospective chart review of the following case studies. A 24-year-old neurologically intact female presented with a Jefferson fracture without vertebral artery dissection after a motor vehicle accident...

Cerebral palsy (CP) is a neurodevelopmental disorder that affects motor function and is often accompanied by secondary musculoskeletal issues. Severe scoliosis, a lateral curvature of the spine over 40 degrees, poses a significant challenge for individuals with CP, impacting their mobility and overall well-being. While the association between scoliosis and gastrointestinal complications is acknowledged, the occurrence of colonic volvulus with necrosis in the context of CP and severe scoliosis is rare and complex...

Chronic hyperglycaemia is a chief feature of diabetes mellitus and complicates with many systematic anomalies. Non-human primates (NHPs) are excellent for studying hyperglycaemia or diabetes and associated comorbidities, but lack behavioural observation. In the study, behavioural, brain imaging and histological analysis were performed in a case of spontaneously hyperglycaemic (HGM) Macaca fascicularis. The results were shown that the HGM monkey had persistent body weight loss, long-term hyperglycaemia, insulin resistance, dyslipidemia, but normal concentrations of insulin, C-peptide, insulin autoantibody, islet cell antibody and glutamic acid decarboxylase antibody...

This retrospective case series of prospective data aims to describe the transaxillary approach for the treatment of upper thoracic spine pathology. Various surgical techniques and approaches have been reported across the literature to address upper thoracic spine pathology, including the cervicothoracic approach, anterior transsternal approach, posterolateral approach, supraclavicular approach, and lateral parascapular approaches. These techniques are invasive. A minimally invasive, less morbid, and direct access approach to the pathology of the upper thoracic spine has not been reported in the literature...

Integration of molecular data with histologic, radiologic, and clinical features is imperative for accurate diagnosis of pediatric central nervous system (CNS) tumors. Whole transcriptome RNA sequencing (RNAseq), a genome-wide and non-targeted approach, allows for the detection of novel or rare oncogenic fusion events that contribute to the tumorigenesis of a substantial portion of pediatric low- and high-grade glial and glioneuronal tumors. We present two cases of pediatric glioneuronal tumors occurring in the occipital region with a CLIP2::MET fusion detected by RNAseq...

No abstract text is available yet for this article.

Gaucher disease (GD) is an autosomal recessively inherited lysosomal storage disorder caused by biallelic pathological variants in the GBA1 gene. Patients present along a broad clinical spectrum, and phenotypes are often difficult to predict based on genotype alone. The variant R463C (p.Arg502Cys) exemplifies this challenge. To better characterize its different clinical presentations, we examined the records of 25 current and historical patients evaluated at the National Institutes of Health. Nine patients were classified as GD1, 14 were classified as GD3, and two had an ambiguous diagnosis between GD1 and GD3...

BACKGROUND AND OBJECTIVES: Spinal dural arteriovenous fistulas (SDAVFs) lead to progressive neurological decline with symptoms such as paraparesis, bowel and bladder dysfunction, and sensory disturbances because of impaired spinal cord venous drainage. This study aimed to systematically review the literature on multiple synchronous SDAVFs and present 2 cases from our institution. METHODS: A comprehensive search was performed to identify all published cases of multiple synchronous SDAVFs...

INTRODUCTION: Onyx embolization has emerged as a promising technique for spinal tumor embolization due to its high devascularization rate and low incidence of complications. OBJECTIVE: Evaluate the safety and efficacy of Onyx embolization in spinal tumor procedures. METHODS: Following the PRISMA guidelines, we conducted a systematic review and meta-analysis. To be included, the articles had to report specific outcomes of Onyx embolization for spinal tumors (complications, mortality, blood loss, tumor devascularization, or reduction in tumor blush)...

Dengue is a systemic viral infection, and clinical findings vary from asymptomatic to life-threatening, including shock and neurological complications. Despite efforts in vector control, the disease continues to spread worldwide, and the number of annual dengue infections is estimated to be 390 million. For patients with severe dengue, early diagnosis is important; however, owing to the wide range of symptoms and severity, diagnosis can be difficult. Herein, we report the case of a 24-year-old man from Vietnam who was found to have dengue shock syndrome complicated by meningoencephalitis, even though he did not show the typical clinical manifestations of dengue infection...

Schwannomas localized in the sacrum are relatively infrequent, accounting for 1-5% of all spinal axis schwannomas; they present with vague symptoms or are symptomless, so often grow to a considerable size before detection. Sacral schwannomas occasionally present with enormous dimensions, and these tumors are termed giant sacral schwannomas. However, their surgical removal is challenging owing to an abundant vascularity. The present study retrospectively analyzed the clinical and follow-up data of a patient with a giant sacral schwannoma...

Leptomeningeal disease (LMD) is a rare complication of advanced non-small cell lung cancer (NSCLC), associated with a poor prognosis. We report the case of a 55-year-old man, who presented with a metastatic NSCLC with limited brain and abdominal metastases. He was treated with both chemoimmunotherapy and stereotactic radiotherapy (SRT) to the brain. Despite treatment, the patient experienced progressive neurological symptoms not in keeping with the extent of disease seen on imaging of the brain. Due to this incongruence between symptoms and radiologic findings, he underwent a lumbar puncture, which had positive cytology for LMD...

Posterior reversible encephalopathy syndrome (PRES), which was first described in 1996, is a neurologic condition characterized by a combination of clinical and neuroimaging findings. PRES may arise in the context of preeclampsia, eclampsia, renal failure, and sepsis, among other conditions. Neuropsychiatric symptoms of PRES include altered mental status, agitation, and in some cases psychosis. PRES occurring in the postpartum period is understudied, especially with regard to its psychiatric manifestations...

Anterolisthesis is a condition where a vertebra in the spine slips forward relative to the vertebra below it. Anterolisthesis is often described in terms of the direction of the slippage and the affected vertebrae, such as L5-S1 anterolisthesis, which indicates the slippage occurring between the fifth lumbar vertebra (L5) and the sacral bone (S1). Anterolisthesis can result from various factors, trauma, or congenital abnormalities. The symptoms associated with anterolisthesis can include lower back pain, stiffness, muscle tightness, and neurological symptoms if the slippage compresses nearby nerves...

Stroke is often viewed as a diagnosis found In the elderly with or without comorbidities, but it is vital to not rule it out in a pediatric patient presenting with signs and symptoms of stroke. Here, we present a case of an 18-month-old boy who arrived at the emergency department with left arm weakness and left-sided seizures a few minutes after a right-sided trivial neck bite that was initially overlooked by the parents until symptoms occurred. Urgent imaging further with a computed tomography scan of the brain revealed a hypodense lesion in the area covering the lateral part of the frontal lobe, insula, and parietal cortex of the right hemisphere...

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, commonly known as COVID-19, has been associated with various neurological complications. However, the mechanisms underlying these neurological manifestations remain incompletely understood. We present a case of a 63-year-old male who was admitted to the intensive care unit with severe COVID-19 pneumonia. Following recovery from respiratory symptoms, he was found to have weakness in the limbs. Months later, he also developed altered mental status, hallucinations, and behavioral changes...

Scrub typhus, a tropical rickettsial infection, can have various neurological manifestations. Here, we present the case of an otherwise healthy 19-year-old female who presented to the emergency department with fever, headache, and diplopia. On examination, she was found to have bilateral sixth nerve palsy and bilateral papilledema. Initial unenhanced CT of the brain and CT venogram were unremarkable. The cerebrospinal fluid study was normal. Later, bloodwork revealed high titers of Orientia tsutsugamushi antibody...

Anti-IgLON5 disease is a rare autoimmune neurological condition which was relatively recently described in the literature. This syndrome encompasses a range of clinical manifestations with most cases showing unremarkable findings on brain magnetic resonance imaging (MRI). Here, we report a case of a 61-year-old female patient with unique brain MRI features that, to the best of our knowledge, has not been reported in the literature before. Following treatment including immunotherapy, the patient experienced significant improvement clinically accompanied by radiological improvement on the follow-up imaging...