Search Results (73)

The elderly population in Japan was 29.3% in 2024, the highest in the world, making medical care for elderly patients an urgent social issue. There are challenges in providing care for elderly patients with head injury, since the buffering effect of the expansion of the subdural space due to brain atrophy masks the neurological symptoms caused by a hematoma, making detection difficult. However, brain damage can be detected with high sensitivity and specificity using blood D-dimer as a biomarker without the need for head computed tomography (CT). Also, about 30% of elderly patients with traumatic brain injury (TBI) are taking antithrombotic drugs, and the effects of these drugs on TBI may include an increase in intracranial hematomas and an increased risk of deterioration. Reversal therapy is used as a countermeasure to prevent hematoma expansion, but this requires the administration of a reversal agent early after injury and before hematoma expansion. In decompression surgery, the use of a mini-craniotomy with neuroendoscopic assistance under local anesthesia can reduce invasiveness, and this method significantly reduces intraoperative bleeding and operation times compared to a major craniotomy. These innovations have improved mortality for TBI in elderly patients, but there is still a need for improvements in functional outcomes. Full article

During aging, the brain vasculature undergoes significant deterioration characterized by increased arterial tortuosity, compromised blood–brain barrier integrity, and reduced cerebral blood flow, all of which contribute to various neurological disorders. Thus, understanding the mechanisms underlying aging-related cerebrovascular defects is critical for developing strategies to alleviate aging-associated neurological diseases. In this study, we investigated the role of aging-related genes in brain vascular development using zebrafish as an in vivo model. By thoroughly analyzing scRNA-seq datasets of mid- and old-aged brain vascular endothelial cells (human/mouse), we found ribosomal protein S20 (rps20) significantly down-regulated during aging. qPCR analysis and whole-mount in situ hybridization validated a high expression of rps20 during early zebrafish development, which progressively decreased in adult and aged zebrafish brains. Functional studies using the CRISPR/Cas9-mediated knockout of rps20 revealed an impaired growth of central arteries in the hindbrain and a marked increased intracranial hemorrhage incidence. Mechanistically, qPCR analysis demonstrated a significant downregulation of vegfa, cxcl12b, and cxcr4a, key signaling molecules required for hindbrain vascular development, in rps20-deficient embryos. In conclusion, our findings demonstrate that rps20 is essential for proper brain vascular development and the maintenance of vascular homeostasis in zebrafish, revealing a novel mechanism by which aging-related genes regulate brain vascular development. This study provides new insights that may aid in understanding and treating aging-associated vascular malformations and neurological pathologies. Full article

Intraventricular hemorrhage (IVH) is a common complication encountered in extremely-low-birth-weight (ELBW) and very-low-birth-weight (VLBW) premature babies. The neurologic outcome of these patients is influenced by the magnitude of the hemorrhagic process that damages the involved anatomic structures but also by the impaired circulation of cerebrospinal fluid (CSF) through the ventricular system, leading to posthemorrhagic ventriculomegaly (PHVM). Cranial ultrasound (CUS) performed by neonatologists (point-of-care ultrasound—POCUS) facilitates the early diagnosis of IVH and PHVM and can objectively quantify structural alterations. Our aim was to identify the best sonographic criteria to follow-up with ventricular dilatation and predict the need for neurosurgery and neurologic deterioration. We performed a literature review in search of the most relevant ventricular measurements considered by neurosurgeons, neonatologists, and pediatric neurologists to reflect the risk of white matter injury and high intracranial pressure (HIP), thus anticipating neurologic developmental impairment (NDI). The tridimensional picture of ventricular dilatation is best captured if more than one index (ventricular index and anterior horn width) or ratio (Evans ratio, fronto-occipital horn ratio, and fronto-temporal horn ratio) is used. Conclusions: If performed using the correct protocol, serially and comprehensively, CUS is an indispensable tool for the diagnosis and follow-up of neurologic complications of preterm babies, and it can make a difference in guiding adequate intervention and improving long-term developmental outcomes. Full article

Background/Objectives: Idiopathic normal-pressure hydrocephalus (iNPH) is a potentially reversible neurological disorder characterized by gait disturbance, cognitive impairment, and urinary incontinence. Its pathophysiology involves impaired cerebrospinal fluid (CSF) absorption, and recent research has highlighted the role of the glymphatic and meningeal lymphatic systems in this process. However, the factors that trigger the clinical manifestations of iNPH in subclinical cases remain poorly understood. Case Presentation: Herein, we report two rare cases of iNPH in which clinical symptoms only became apparent following systemic infections. An 82-year-old man presented with transient neurological deficits during a course of sepsis caused by Klebsiella pneumoniae. Neuroimaging revealed periventricular changes and mild ventricular enlargement. Shunting and a tap test led to significant improvements to both his gait and cognition. An 80-year-old man with a history of progressive gait disturbance and cognitive decline developed worsening urinary incontinence and acute cerebral infarction caused by Staphylococcus haemolyticus bacteremia. Magnetic resonance imaging revealed a ventriculomegaly with features of disproportionally enlarged subarachnoid space hydrocephalus and a corona radiata infarct. Clinical improvement was achieved after a ventriculoperitoneal shunt was placed. Conclusions: Our two present cases suggest that systemic inflammatory states may act as catalysts for the manifestation of iNPH in patients with predisposing cerebral ischemia or subclinical abnormalities in CSF flow, highlighting the need for higher clinical awareness of iNPH in older patients who present with neurological deterioration during systemic infections. Early diagnosis and timely shunting after appropriate infection control may facilitate significant functional recovery in such patients. Full article

Objectives: This review explores the role of swept-source optical coherence tomography (OCT) in diagnosing and monitoring optic nerve neuropathy in Wernicke’s encephalopathy (WE) due to hyperemesis gravidarum, including a case of neuropathy from intractable vomiting in pregnancy. Methods: A literature search was conducted in the PubMed database to select high-quality reviews and original articles on the use of swept-source OCT for assessing optic nerve involvement in WE due to hyperemesis gravidarum. Results: WE is a potentially fatal neuropsychiatric syndrome caused by thiamine deficiency due to various causes, like alcoholism, malnutrition, and prolonged parenteral nutrition. This condition can cause neurological disorders such as imbalance, altered mental status, nystagmus, and ophthalmoplegia. Sometimes, there is also a deterioration of visual acuity with swelling of the optic disc. OCT is a non-invasive imaging tool that can detect optic nerve involvement in WE by assessing peripapillary retinal nerve fiber layer (pRNFL) thickness. In the acute phase, optic disc edema and increased pRNFL thickness may be observed, while chronic-phase changes include optic nerve atrophy and pRNFL thinning. WE may occur in the course of hyperemesis gravidarum in pregnant women. We present a case of a 23-year-old woman at 14 weeks of gestation with WE due to severe hyperemesis gravidarum, manifesting as visual impairment and neurological deficits. MRI confirmed the diagnosis, while OCT revealed transient pRNFL thickening followed by optic nerve atrophy. Conclusions: Early diagnosis and thiamine supplementation are crucial to preventing severe complications. OCT is a valuable tool for detecting and tracking optic nerve changes in WE. Full article

Background: Glioblastoma (GBM) is the most common primary brain tumor in adults, with a poor prognosis and survival. Although typically presenting with focal neurological deficits, seizures, or cognitive decline, GBM can occasionally mimic autoimmune encephalitis (AE), leading to significant diagnostic delay. The overlap in clinical, radiological, and serological findings between GBM and AE underscores the need for thorough evaluation. Methods: We retrospectively reviewed cases of patients diagnosed between 2016 and 2023 with pathology-confirmed GBM, critically rethinking those cases initially diagnosed with AE at symptom onset. The diagnostic workup included magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, autoantibody testing, and whole-body nuclear scanning to exclude extracranial malignancies. Results: We found five female patients diagnosed with GBM who initially presented with signs and symptoms suggestive for AE. Initial MRI showed non-specific brain tissue alterations, without definitive tumor features. CSF analysis was largely unremarkable, though some cases exhibited positive autoantibodies. Despite therapy, clinical deterioration and follow-up MRI revealed infiltrative intra-axial lesions with contrast enhancement, leading to pathology-confirmed GBM diagnoses. All patients had poor prognoses, with a mean survival of 10 ± 4 months. Conclusions: GBM can mimic AE, delaying appropriate treatment. In patients with atypical MRI findings and suboptimal response to therapy, early follow-up imaging and biopsy should be considered to exclude malignancy. A multidisciplinary approach is critical for timely diagnosis and improved management. Full article

Background/Objectives: A 43-year-old male presented with neurological symptoms and asymptomatic cardiac dysfunction, left ventricular hypertrophy, and impaired global longitudinal strain with apical sparing, associated with elevated NT-proBNP. Methods: Multimodality imaging (bone scintigraphy and cardiac magnetic resonance) revealed cardiac amyloid deposition. Genetic testing confirmed variant transthyretin amyloidosis (ATTR) with mixed phenotype. Results: Treatment with tafamidis 20 mg for stage I polyneuropathy, available at that moment, was initiated with good neurological outcome. Three years later, cardiac function deteriorated, following a moderate COVID-19 infection, with heart failure symptoms and reduced ventricular and atrial functions. For progressive ATTR cardiomyopathy, we intensified therapy to tafamidis free acid 61 mg, associated with SGLT2 inhibitor, spironolactone, and furosemide with subsequent improvements of symptoms and stabilization of imaging findings. Conclusions: This case emphasizes the importance of multimodal imaging in early detection, monitoring, and guiding individualized management in ATTR cardiomyopathy. Full article

Cervical pyogenic spondylitis (CPS) is a rare but serious spinal infection with a high risk of neurological compromise due to the cervical spine’s narrow canal and proximity to critical neurovascular structures. Early diagnosis relies on a high index of suspicion supported by MRI, inflammatory markers, blood cultures, and tissue biopsy. Empirical intravenous antibiotics remain the cornerstone of initial treatment, followed by pathogen-specific therapy. Surgical intervention is indicated in cases of neurological deterioration, spinal instability, or failure of conservative management. Anterior approaches, including anterior cervical discectomy and fusion (ACDF) and anterior cervical corpectomy and fusion (ACCF), are widely used, with anterior plating providing biomechanical advantages in select cases. Posterior or combined anterior–posterior approaches are recommended in multilevel disease, deformity, or posterior element involvement. Graft selection—typically autograft or titanium/PEEK cages—must consider infection severity and biomechanical demands. Challenges in CPS management include optimal debridement extent, graft choice in infected environments, the standardization of antibiotic protocols, and the prevention of recurrence. This narrative review synthesizes the cervical-spine-specific literature on diagnosis, treatment strategies, surgical techniques, and postoperative care and proposes the following practical clinical guidance: (1) early MRI for timely diagnosis, (2) prompt surgical intervention in patients with neurological deficits or mechanical instability, and (3) individualized graft selection based on infection severity and bone quality. Full article

Background and Objectives: This is a retrospective study conducted at the Clinical County Hospital of Craiova, Romania, providing valuable insights into hemorrhagic transformation (HT) in thrombolyzed patients with acute ischemic stroke (AIS). Hemorrhagic complications remain a significant concern after intravenous thrombolysis with recombinant tissue plasminogen activator (rt-PA). This study aims to analyze clinical and biological factors associated with HT following thrombolysis. Materials and Methods: A retrospective analysis was conducted on 356 patients who received rt-PA at the Clinical County Hospital of Craiova between January 2020 and December 2024. Patients were divided into three groups based on CT findings at 24 h post-thrombolysis: no HT, minimal HT, and massive HT. Baseline characteristics were analyzed, including demographics, medical history, NIHSS scores, imaging findings, and laboratory parameters. Statistical analysis was performed using ANOVA and chi-square tests, with a significance threshold of p < 0.05. Results: HT occurred in 12.08% of patients (minimal HT: 8.15%, massive HT: 3.93%). Mortality was significantly higher in the massive HT group (71.43%) compared to minimal HT (41.38%) and non-HT (13.42%) (p < 0.001). Lower platelet count (p = 0.003), elevated blood glucose (p = 0.004), prolonged QT interval (p = 0.004), and reduced fibrinogen levels (p = 0.005) were significantly associated with HT. Other risk factors included atrial fibrillation (p = 0.001), hypertension (p = 0.005), delayed door-to-needle time (p < 0.001), diabetes mellitus (p = 0.007), dense ACM sign on CT (p = 0.003), older age (p < 0.001), obesity (p = 0.001), early neurological deterioration at 2 h/24 h (p < 0.001), elevated GOT (p < 0.001), elevated GPT (p = 0.002), lower LDL cholesterol (p < 0.001), lower total cholesterol (p = 0.001), and lower triglycerides (p < 0.001). Conclusions: Patients with HT had worse clinical outcomes, with massive HT associated with the highest mortality. Risk factors include age, nutritional status, hyperglycemia, and low platelet and fibrinogen levels, among others. Full article

Background: Stress hyperglycemia may deteriorate stroke outcomes, but its impact on the prognosis following mechanical thrombectomy remains unclear. This study aimed to evaluate the effects of stress hyperglycemia on in-hospital and 3-month outcomes in stroke patients with anterior circulation occlusion undergoing mechanical thrombectomy. Methods: A total of 415 patients who had mechanical thrombectomy in the anterior circulation were enrolled. The stress hyperglycemia ratio (SHR) was calculated as the fasting glucose to glycated hemoglobin ratio and was categorized into tertiles (i.e., SHR1–3). In-hospital and 3-month outcomes were compared using multivariable regression models. The impact of SHR stratified by diabetes status was evaluated and the predictive accuracy of the Totaled Health Risks in Vascular Events (THRIVE)-c risk score was explored with the inclusion of SHR. Results: Compared to the SHR1–2 groups, the SHR3 group exhibited significantly higher rates of 24 h symptomatic intracranial hemorrhage (adjusted odds ratio [aOR], 4.088; 95% confidence interval [CI], 1.551–10.772; p = 0.004) and 72 h early neurological deterioration (aOR, 3.505; 95% CI, 1.984–6.192; p < 0.001), while the incidence of post-stroke pneumonia did not differ significantly between the groups (aOR, 1.379; 95% CI, 0.838–2.268; p = 0.206). At three months, the SHR3 group had a worse distribution of modified Rankin scale (aOR, 2.261; 95% CI, 1.495–3.421; p < 0.001) and faced a higher risk of functional dependence (adjusted hazard ratio [aHR], 1.629; 95% CI, 1.230–2.158; p = 0.001) as well as all-cause mortality (aHR, 1.986; 95% CI, 1.235–3.194; p = 0.005). The adverse effects of an elevated SHR were more pronounced in non-diabetic patients, and incorporating SHR significantly enhanced the predictive accuracy of the THRIVE-c score for poor stroke outcomes. Conclusions: Stress hyperglycemia could be related to the risks of in-hospital complications and 3-month poor outcomes following mechanical thrombectomy in the anterior circulation. Full article

Background/Objectives: Pontine cavernomas are rare and challenging vascular malformations, representing a critical subset of brainstem lesions due to their deep location and proximity to essential neural structures. When hemorrhagic, these lesions can cause rapid neurological deterioration, posing life-threatening risks. Management requires a delicate balance between aggressive intervention and preserving vital functions. This case report presents the successful surgical treatment of a giant hemorrhagic pontine cavernoma, highlighting the integration of advanced imaging, precision surgical techniques, and multidisciplinary care to achieve an exceptional patient outcome. Methods: A 47-year-old female presented with acute neurological deterioration, including severe right-sided hemiparesis, dysphagia, and obnubilation. High-resolution MRI, including susceptibility-weighted imaging, confirmed a giant hemorrhagic pontine cavernoma causing brainstem compression. An urgent left-sided pterional craniotomy with a transsylvian approach was performed to access the lesion. Subtotal resection and hematoma evacuation were carried out to relieve brainstem compression while preserving critical structures. Postoperative recovery and lesion stability were evaluated through clinical assessments and imaging after three months. Results: Postoperatively, the patient exhibited marked neurological recovery, with near-complete resolution of hemiparesis, restored swallowing function, and significant functional improvement. Follow-up imaging confirmed a stable residual lesion, no recurrence of hemorrhage, and a well-preserved ventricular system. The combination of early intervention and tailored surgical strategies resulted in a highly favorable outcome. Conclusions: This case underscores the complexity of managing giant hemorrhagic pontine cavernomas and demonstrates that carefully planned surgical intervention, combined with advanced imaging and patient-focused care, can yield remarkable outcomes. It highlights the critical importance of early diagnosis, meticulous surgical planning, and future innovations in neurovascular surgery to improve outcomes in these rare but high-stakes cases. Full article

Early neurological deterioration is associated with poor functional outcomes in stroke patients, but the underlying mechanisms remain unclear. This study aims to understand the progression of stroke-related brain damage using a rhesus monkey model with ischemic occlusion. Multiparameter MRI was used to monitor the progressive evolution of the brain lesion following stroke. Resting-state functional MRI, dynamic susceptibility contrast perfusion MRI, diffusion tensor imaging, and T1- and T2-weighted scans were acquired prior to surgery and at 4–6 h, 48 h, and 96 h following the stroke. The results revealed a sudden increase in infarction volume after the hyper-acute phase but before 48 h on diffusion-weighted imaging (DWI), with a slight extension by 96 h. Lower relative cerebral blood flow (CBF) and time to maximum (Tmax) prior to the stroke, along with a progressive decrease post-stroke, were observed when compared to other stroke monkeys in the same cohort. Functional connectivity (FC) in the ipsilesional secondary somatosensory cortex (S2) and primary motor cortex (M1) exhibited an immediate decline on Day 0 compared to baseline and followed by a slight increase on Day 2 and a further decrease on Day 4. These findings provide valuable insights into infarction progression, emphasizing the critical role of collateral circulation and its impact on early neurological deterioration during acute stroke. Full article

The diagnosis of aneurysmal subarachnoid hemorrhage (aSAH) is most difficult in patients who are in good clinical condition with a small hemorrhage, especially when a ruptured aneurysm might not be considered, or if a computed tomographic (CT) scan is not obtained, or if when a CT is obtained, the findings are subtle and missed by an inexperienced reviewer. All acute onset (thunderclap) headaches should be considered ruptured aneurysms until proven otherwise. Treatment begins with immediate control of pain and blood pressure, placement of an external ventricular drain (EVD) in poor-grade patients and those with acute hydrocephalus on CT scanning, administration of antifibrinolytic tranexamic acid, and then repair of the aneurysm with either surgical clipping or endovascular techniques as soon as the appropriate treatment team can be assembled. After securing the aneurysm, aSAH patient treatment is focused on maintaining euvolemia and a favorable systemic metabolic state for brain repair. A significant and aneurysm-specific threat after aSAH is delayed arterial vasospasm and resulting cerebral ischemia, which is detected by vigilant bedside examinations for new-onset focal deficits or neurological decline, assisted with daily transcranial Doppler examinations and the judicious use of vascular imaging and cerebral perfusion studies with CT. The management of diagnosed symptomatic vasospasm is the prompt induction of hypertension with vasopressors, but if this fails to reverse deficits quickly after reaching a target systolic blood pressure of 200 mmHg, endovascular angioplasty is indicated, providing CT scanning rules out an established cerebral infarction. Balloon angioplasty should be considered early for all patients found to have severe angiographic vasospasm, with or without detectable signs of ischemic neurological deterioration due to either sedation or a pre-existing deficit. Full article

Background/Objectives: Early identification of pediatric sepsis complications in intensive care is challenging and requires improved diagnostic tools. This study aimed to compare the Phoenix Sepsis Score (PSS), pSOFA, PELOD-2, and PRISM III in assessing clinical complexity in children with septic and critical conditions in the PICU and to identify the most suitable scale for this patient cohort. Methods: Data were collected prospectively from 53 children between June 2022 and January 2024. Patients were categorized into septic (n = 42) and non-infectious SIRS (n = 11) and further classified by outcome—with/without complications (n = 23/30). The predictive accuracy of the scoring systems was evaluated by discrimination and calibration and by recalibration for the PSS for improved performance. Results: Respiratory (18.8%) and neurological complications (9.4%) were the most common adverse events. Clinical deterioration was observed in 43.4% of cases, including one fatality. Patients with complications stayed longer in the PICU (14 ± 10 days). In the patients with complications, all scoring systems had higher median values. Only PSS showed a significant difference (p = 0.0023). PSS demonstrated the highest overall predictive accuracy (76.2%) outperforming PRISM III (62.3%) and PELOD-2 (58.5%). The pSOFA scale showed high accuracy (88.0%) in identifying patients without complications. The strongest association was between chronic disease (hazard ratio Exp(B) = 1.718) and deteriorations, while mechanical ventilation suggested a reduced risk of complications (Exp(B) = 0.509). Conclusions: PSS showed superior predictive accuracy (76.2%) for deteriorations in pediatric patients with suspected infection and proved adaptable for further validation in larger populations. Full article

Pathogenic variants in DNM1L, encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo DNM1L variant identified by whole exome sequencing performed more than 10 years after the patient’s death. Meanwhile, we reviewed the broadness and specificities of DNM1L-related phenotype. The patient, who exhibited developmental delay in her third year, developed a therapy-refractory myoclonic status epilepticus, followed by neurological deterioration with brain atrophy and refractory epilepsy. She died of heart failure due to hypertrophic cardiomyopathy. She was found to be heterozygous for the DNM1L variant (NM_ 012062.5):c.1201G>A, p.(Gly401Ser). We demonstrated its deleterious impact and dominant negative effect by assessing haploid and diploid mutant yeast strains, oxidative growth, oxygen consumption, frequency of petite, and architecture of the mitochondrial network. Structural modeling of p.(Gly401Ser) predicted the interference of the mutant protein in the self-oligomerization of the DRP1 active complex. DNM1L-related phenotypes include static or (early) lethal encephalopathy and neurodevelopmental disorders. In addition, there may be ophthalmological impairment, peripheral neuropathy, ataxia, dystonia, spasticity, myoclonus, and myopathy. The clinical presentations vary depending on mutations in different DRP1 domains. Few pathogenic variants, the p.(Gly401Ser) included, cause an encephalocardiomyopathy with refractory status epilepticus. Full article