Search Results (57)

Case summary: A 2-year-old male neutered domestic shorthair cat was presented with a progressive history of tetraparesis, ataxia, and inappetence over 4 days. A physical exam revealed mucopurulent nasal discharge and stertor. A neurologic exam revealed a multifocal neurolocalization. The cat was non-ambulatory tetraparetic and developed seizures while in hospital. Hematologic assessment revealed anemia, hypoalbuminemia and hyperglobulinemia. Magnetic resonance imaging (MRI) of the brain revealed multifocal meningeal contrast enhancement in the brainstem and cervical spine, as well as mandibular and retropharyngeal lymphadenopathy. Cerebrospinal fluid revealed marked neutrophilic pleocytosis; no infectious organisms were seen. Toxoplasma IgG/IgM and Cryptococcus antigen latex agglutination were negative. Mandibular and abdominal lymph nodes were aspirated, and cytology revealed mixed inflammation. The cat was suspected to have feline infectious peritonitis, and to aid in clinical diagnosis he was enrolled in research study—with targeted Nanopore-based sequencing specifically identifying and characterizing FCoV-1 RNA in spinal fluid and anal swab, but not in urine. The cat was treated with anticonvulsants (phenobarbital and levetiracetam), an antibiotic (ampicillin/clavulanic acid), and GS-441524. Neurologic signs did not improve on an antibiotic alone but improved significantly after two subcutaneous injections of GS-441524. The cat received an 84-day course of GS-441524 and, at the time of manuscript preparation (over 12 months after diagnosis), remains ambulatory and seizure-free without recurrence of neurologic signs and no detectable viral shedding in feces. Full article

Introduction: This study presents long-term data of pediatric AIS patients with a favorable initial clinical presentation who were followed by a tertiary pediatric neurology clinic with a well-organized stroke team. Method: Patients who were diagnosed with AIS at pediatric age (28 days–18 years) and followed for at least 5 years by the same clinic were included in this study. The clinical and demographical characteristics of the patients were retrospectively collected from their medical records. At their last visit, the modified Rankin scale (mRS) and Pediatric Stroke Outcome Measure Short Neuro Exam (PSOM-SNE) were administered, and a neurological examination was performed. Results: A total of 32 patients (20 of whom were male, 62.5%) were included in this study. Their mean age at the time of the study was 162.62 ± 64.4 (62–300) months. The mean age at first ischemic stroke was 77.39 ± 61.93 (0.5–180) months, and the mean follow-up duration was 85.44 ± 20.52 (60–121) months. Seventeen patients (53.3%) reported normal daily functions at the last visit. A younger presentation age (≤60 months) was related to a longer hospital admission duration (24 h vs. 9 h) and worse long-term functional outcomes (p = 0.023). The affected vascular territory did not have any significant effect on long-term clinical outcomes (p = 0.550). Anticoagulant treatment alone was consistent with a worse prognosis compared to antithrombotic treatment alone or the combination of both (p = 0.026). PSOM-SNE scores were helpful in detecting some mild cognitive and language dysfunctions in patients with favorable mRS scores and subtle neurological sequelae. Conclusions: Pediatric AIS with a mild presentation has some degree of long-term morbidity, even when handled at well-organized stroke centers. A younger presentation age has the highest risk of long-term neurological sequelae. Full article

Background/Objectives: Little is known about the factors linked with nutrition, infections, and physical activity, which may influence urinary stone formation in patients with acquired brain injury. Previous studies have demonstrated that enteral nutrition mixtures rich in sodium and poor in calcium may promote stone formation in pediatric patients, but a confirmation study is lacking. Moreover, the occurrence of urinary stones and heterotopic ossifications has not been studied regarding incidence. We thus conducted a prospective observational study in an unselected pediatric population with acquired brain injury, to estimate the incidence of urinary stones and heterotopic ossifications and analyze the associated factors. Methods: Prospective observational study: We recruited all patients with enteral nutrition consecutively admitted to our brain injury rehabilitation unit during a 5-year time-frame. We collected clinical data regarding nutrition, infections, blood and urine exams performed, neurological examinations, and physical examinations. Results: The prospective design allowed us to observe that no patient developed heterotopic ossifications, while urinary stones were found in 12.5% of patients and gravel in 14.6%. Factors associated with stone formation were having a worse subacute GCS, having done intense physical activity before injury, receiving bladder catheterizations, having a higher urine pH, and having higher blood potassium levels. The composition of the enteral nutrition did not influence stone formation, although the nutrition mixtures contained levels of vitamin C and proteins considerably higher than the recommended reference ranges. Conclusions: We have provided an observation of the incidence of urolithiasis in pediatric patients in rehabilitation, which was lacking from the literature. Enteral nutrition, at the amounts received by the patients studied herein, does not seem to have a role in stone formation. We identified a set of risk factors that can be useful for clinicians to pinpoint patients at an increased risk of developing stones. Full article

Background/Objectives: The Hammersmith Infant Neurological Examination (HINE) is a standardized neurologic exam for infants between 2 and 24 months. Scores can be compared to optimality cutoffs as one component to support an early diagnosis of cerebral palsy (CP). Some prognosis is also possible for infants diagnosed with CP. We aimed to understand the longitudinal trajectories of HINE scores in infants who were ultimately diagnosed with CP. Methods: Clinical records were reviewed for children who were diagnosed with CP in two high-risk infant follow-up clinics with HINE scores from at least two visits between the corrected ages of 3 months and 2 years. Trajectories were calculated individually and by group for infants in four categories—term neonatal hypoxic ischemic encephalopathy (HIE), term perinatal arterial ischemic stroke (PAIS), premature infants with brain injury, and “Other” (term infants with congenital malformations and/or congenital hydrocephalus). The changes in HINE scores between clinic visits were compared using linear mixed-effect models with a random intercept, pulling data by diagnostic group across visits and accounting for within-child correlations of scores over the follow-up time. Results: The changes in HINE scores for sixty children (twenty-five with prematurity, eighteen with HIE, seven with PAIS, and ten in the other category) were assessed. The linear mixed-effect models indicated that the infants with PAIS had an estimated 10.8-point increase in total HINE scores after 9 months of age compared to earlier assessments (95% CI [2.5, 19.2]. There was no statistically significant improvement in the scores among the infants in the other brain injury groups. The infants with PAIS had an estimated 2.9-point increase in HINE asymmetry scores after 9 months of age compared to prior visits (95% CI [0.7, 5.1]). None of the other diagnostic categories had statistically significant increases in asymmetry scores over time. Conclusions: The children with PAIS with resultant hemiplegia showed increasing HINE scores throughout the first two years of life. In contrast, the HINE scores remained stable for those children with term HIE, prematurity-associated brain injury, and congenital malformations and/or congenital hydrocephalus diagnosed with CP. Tracking individual changes (or stability) in HINE scores can aid diagnosis, inform prognosis, and guide the design of clinical trials targeting neurologic injury. Full article

Background/Objectives: To simplify diagnosing congenital and acquired nystagmus using fundus photographs. Methods: A retrospective study included patients with congenital or childhood-acquired nystagmus examined at a hospital-based ophthalmology clinic (September 2020–September 2023) with fundus photos taken. Exclusions were for incomplete data or low-quality images. Demographics, aetiology, orthoptic measurements, and ophthalmologic and neurological exams were reviewed. Two independent physicians graded fundus photos based on amplitude (distance between “ghost” images), the number of images visible, and the direction of nystagmus. Severity was rated on a 0–3 scale using qualitative and quantitative methods. Photographic findings were compared to clinical data, and statistical analysis used Mann-Whitney tests. Results: A total of 53 eyes from 29 patients (16 females, 13 males; mean age 12.5 years, range 3–65) were studied: 25 with binocular nystagmus and 3 with monocular nystagmus. Diagnoses included congenital (n = 15), latent-manifest (n = 3), neurologically associated (n = 2), and idiopathic (n = 9). Types observed were vertical (n = 5), horizontal (n = 23), rotatory (n = 10), and multidirectional (n = 15). Visual acuity ranged from 20/20 to no light perception. Fundus photos correlated with clinical diagnoses, aiding qualitative assessment of direction and amplitude and mitigating eye movement effects for clearer retinal detail visualization. Conclusions: Fundus photography effectively captures nystagmus characteristics and retinal details, even in young children, despite continuous eye movements. Integrating fundus cameras into routine practice may enhance nystagmus diagnosis and management, improving patient outcomes. Full article

Background/Objectives: HIV-associated neurocognitive impairment (NCI) remains a prevalent issue among people with HIV (PWH) despite advancements in antiretroviral therapy (ART). The pathogenesis of HIV-associated NCI is linked to chronic neuroinflammation caused by HIV, even in those with successful viral suppression. Growth Differentiation Factor 15 (GDF15), a protein involved in inflammatory and metabolic stress responses, has emerged as a key player and potential biomarker for various neurological conditions. This study investigates the relationship between GDF15 expression and HIV-associated NCI. Methods: PWH from the California NeuroAIDS Tissue Network (CNTN) underwent comprehensive neuropsychological exams within 12 months before death and were categorized based on cognitive performance. We examined GDF15 levels in their CSF (Cerebrospinal Fluid) and brain tissues using immunoblotting, immunohistochemistry, double immunolabeling, and ELISA. Results: The cohort was of a similar age across HIV-associated NCI statuses (mean = 40.5), with a predominance of males (77%). The mean plasma viral load was 3.56 log₁₀ copies/mL for Neurocognitively Unimpaired (NUI) PWH and 5.38 log10 copies/mL for people with HIV-associated NCI. GDF15 protein levels were significantly elevated in the frontal cortices of PWH with NCI compared to NUI PWH. Conclusions: The findings indicate that GDF15 may play a role in the pathogenesis of HIV-associated NCI, possibly through neuroinflammatory mechanisms. The strong association between GDF15 levels and cognitive impairment severity suggests its potential as a biomarker for the early detection and monitoring of NCI in PWH. Full article

Background/Objectives: Routine screening electrocardiograms (ECGs) prior to starting medications for attention-deficit/hyperactivity disorder (ADHD) remain controversial. This real-world study assessed corrected QT (QTc) interval data from pediatric patients who had a baseline ECG performed prior to initiating treatment with ADHD medications and ≥6 months of clinical follow-up. Methods: A retrospective chart review of children aged 2–18 years diagnosed with ADHD with/without autism spectrum disorder (ASD) at child neurology clinics in Jordan (June 2019 and June 2021) was performed, and children were prescribed with ADHD medications to manage symptoms. Patients had ≥6 months of follow-up and no known cardiac disease/family history. A baseline ECG and regular clinical exams were performed for each child. Results: Of 458 patients with baseline ECGs, 362 met the study inclusion criteria. Overall, 286 (79.0%) patients were diagnosed with ASD/comorbid ADHD and 76 (21.0%) with ADHD alone; 61 (16.9%) were prescribed atomoxetine, 38 (10.5%) methylphenidate, 134 (37.0%) risperidone, and 129 (35.6%) aripiprazole. The patients’ mean ± SD age was 6.4 ± 3.5 years, and most were male (n = 268, 74.0%). The mean baseline QTc interval was 400 ± 22 ms (median, 400 ms); one patient had a QTc interval >460 ms and was excluded from initiating treatment with any ADHD medications. During the ≥6-month follow-up, none of the patients had any signs or symptoms of adverse cardiac effects. Conclusions: Routine screening ECGs prior to treatment with ADHD medications may not be necessary in healthy children with no family history of cardiac disease. However, further studies are needed to evaluate the long-term effects of ADHD medications in low-risk pediatric patients. Full article

Background: Degenerative cervical myelopathy is a progressive neurological disorder that is commonly encountered in clinical practice and its incidence is expected to increase alongside the aging population. Given the importance of early and accurate diagnosis in this patient population, this narrative review aims to provide a repository of up-to-date information regarding pertinent patient history, physical exam findings, and potential alternate diagnoses. Methods: The PubMed database was queried for publications from 1 January 2019 to 19 March 2024. The search terms utilized are as follows: cervical myelopathy”, “cervical spondylotic myelopathy”, “degenerative cervical myelopathy”, “epidemiology”, “prevalence”, “incidence”, “etiology”, “diagnosis”, “differential”, “symptoms”, “clinical presentation”, and “atypical symptoms”. The resultant articles were reviewed for relevance and redundancy and are presented within the following categories: Natural History, Epidemiology, Clinical Presentation, Diagnosis, and Management. Results: Myelopathy patients often present with subtle and non-specific symptoms such as sleep disturbances, increased falls, and difficulty driving, which can lead to underdiagnosis and misdiagnosis. Failing to diagnose degenerative cervical myelopathy in a timely manner can result in progressive and irreparable neurological damage. Although many nonoperative treatment modalities are available, surgical decompression is ultimately recommended in most cases to limit further deterioration in neurological function and optimize long-term patient outcomes. Conclusions: A thorough clinical history and physical examination remain the most important diagnostic tools to avoid misdiagnosis and implement early treatment in this patient population. Full article

Traumatic brain injury (TBI), a major cause of death and disability among young people, leads to significant public health and economic challenges. Despite its frequency, treatment options remain largely unsuitable. However, examination of the blood–brain barrier (BBB) can assist with understanding the mechanisms and dynamics of brain dysfunction, which affects TBI sufferers secondarily to the injury. Here, we present a rat model of TBI focused on two standard BBB assessment markers, high- and low-molecular-weight complexes, in order to understand BBB disruption. In addition, we tested a new technique to evaluate BBB disruption on a single brain set, comparing the new technique with neuroimaging. A total of 100 Sprague–Dawley rats were separated into the following five groups: naive rats (n = 20 rats), control rats with administration (n = 20 rats), and TBI rats (n = 60 rats). Rats were assessed at different time points after the injury to measure BBB disruption using low- and high-molecular-weight complexes. Neurological severity score was evaluated at baseline and at 24 h following TBI. During the neurological exam after TBI, the rats were scanned with magnetic resonance imaging and euthanized for assessment of the BBB permeability. We found that the two markers displayed different examples of BBB disruption in the same set of brain tissues over the period of a week. Our innovative protocol for assessing BBB permeability using high- and low-molecular-weight complexes markers in a single brain set showed appropriate results. Additionally, we determined the lower limit of sensitivity, therefore demonstrating the accuracy of this method. Full article

Telemedicine is now being used more frequently to evaluate patients with myasthenia gravis (MG). Assessing this condition involves clinical outcome measures, such as the standardized MG-ADL scale or the more complex MG-CE score obtained during clinical exams. However, human subjectivity limits the reliability of these examinations. We propose a set of AI-powered digital tools to improve scoring efficiency and quality using computer vision, deep learning, and natural language processing. This paper focuses on automating a standard telemedicine video by segmenting it into clips corresponding to the MG-CE assessment. This AI-powered solution offers a quantitative assessment of neurological deficits, improving upon subjective evaluations prone to examiner variability. It has the potential to enhance efficiency, patient participation in MG clinical trials, and broader applicability to various neurological diseases. Full article

Cytokine-induced neutrophil chemoattractant 1 (CINC-1), a cluster of differentiation 95 (CD95), fractalkine, and T-cell immunoglobulin and mucin domain 1 (TIM-1) are circulating proteins known to be involved in inflammation. While their roles have been studied in neurological conditions and cardiovascular diseases, their potential as peripheral artery disease (PAD) biomarkers remain unexplored. We conducted a cross-sectional diagnostic study using data from 476 recruited patients (164 without PAD and 312 with PAD). Plasma levels of CINC-1, CD95, fractalkine, and TIM-1 were measured at baseline. A PAD diagnosis was established at recruitment based on clinical exams and investigations, defined as an ankle-brachial index < 0.9 or toe-brachial index < 0.67 with absent/diminished pedal pulses. Using 10-fold cross-validation, we trained a random forest algorithm, incorporating clinical characteristics and biomarkers that showed differential expression in PAD versus non-PAD patients to predict a PAD diagnosis. Among the proteins tested, CINC-1, CD95, and fractalkine were elevated in PAD vs. non-PAD patients, forming a 3-biomarker panel. Our predictive model achieved an AUROC of 0.85 for a PAD diagnosis using clinical features and this 3-biomarker panel. By combining the clinical characteristics with these biomarkers, we developed an accurate predictive model for a PAD diagnosis. This algorithm can assist in PAD screening, risk stratification, and guiding clinical decisions regarding further vascular assessment, referrals, and medical/surgical management to potentially improve patient outcomes. Full article

A 72-year-old Brazilian woman presented with a 4-year history of rest tremors of the hands, followed by slowness of movement, and a diagnosis of idiopathic Parkinson’s disease. She was started on dopamine agonists with significant improvement. After three years, she complained about slowly progressive dysphagia, dysphonia, quadriparesis, and cramps and fasciculations. A neurological examination disclosed distal-dominant quadriparesis, dysarthria, atrophy and fasciculation of the tongue, global brisk tendon reflexes, fasciculations, bilateral ankle clonus, and moderate spasticity of the lower limbs. She had also palpitations, dyspnea, and one episode of paroxysmal atrial fibrillation. Electrocardiography revealed a short PR interval, a widened QRS complex, and the delta wave, suggestive of Wolff–Parkinson–White syndrome. Brain and spine MR imaging, a cerebrospinal fluid analysis, and general serum lab exams were unremarkable. Needle electromyography disclosed chronic denervation involving cervical, thoracic, lumbosacral, and bulbar levels associated with acute denervation, including positive sharp waves, fasciculations, and fibrillation potentials. This patient fulfilled the diagnostic criteria for amyotrophic lateral sclerosis associated with parkinsonism. A broad next-generation sequencing-based panel disclosed the presence of the novel heterozygous variant c.1247C > T (p.Pro416Leu) in the PRKAG2 gene (NM_016203.4). Clinicians must be aware of the possibility of PRKAG2 variants in complex clinical scenarios associating cardiac arrhythmia, preexcitation syndromes, hypertrophic cardiomyopathy, motor neuron disease, and parkinsonism. Full article

Background: Multiple sclerosis (MS) is increasing in the pediatric population and, as in adults, symptoms vary among patients. In children the first manifestations can sometimes overlap with acute neurological symptoms. Urological symptoms have not been much studied in childhood. We shared our experience with MS urological manifestation in children. Methods: This article is a retrospective evaluation of all children with MS, according to the Krupp criteria, who also present with urological symptoms. We collected demographic and clinical history, the MR localization of demyelinating lesions, urological symptoms, and exams. Results: We report on six MS pediatric cases with urological manifestation. Urinary symptoms, characterized by urinary incontinence in five patients and urinary retention in one patient, appeared in a different time frame from MS diagnosis. Urodynamic exams showed both overactive and underactive bladder patterns. Treatment was defined according to lower urinary tract dysfunction, using clean intermittent catheterization, oxybutynin, and intradetrusor Onabotulinum Toxin-A injection. A low acceptance rate of invasive evaluation and urological management was observed. Conclusions: The MS diagnosis was traumatic for all our patients. We believe it is important to address urological care in young people from the time of diagnosis for prompt management; it could be useful to include a pediatric urologist in multidisciplinary teams. Full article

A 77-year-old-man with arterial hypertension, diabetes mellitus type II presented at our clinic for a routine ophthalmological exam. He complained of intermittent double vision. The ophthalmic examination revealed paralysis of III (n. oculomotorius) and VI (n. abducens) cranial nerves with ptosis, deficit in elevation and abduction of the left eye. The patient underwent urgent MRI imaging of the brain/orbits and paranasal sinuses, and urgent neurological assessment. MRI revealed a volume-occupying process, starting from the posterior wall of the left maxillary sinus with perineural diffusion and involvement of the homolateral trigeminal nerve, intracranial spread in the medial cranial fossa and involvement of the cavernous, sphenoidal sinuses and the orbital apex on the left side. Biopsy was performed, and the histology resulted in sinonasal squamous cell carcinoma with intracranial spread. Full article

This study aimed to evaluate assessment and referral practices for the early detection and diagnosis of children at risk for or with cerebral palsy (CP) by health care and education providers in Maryland and Delaware. A secondary aim was to identify barriers for using early detection tools and identify opportunities for change to support early diagnosis and improve care. Seventy-two participants answered ≥ 50% of the survey questions. Most were occupational or physical therapists (86%) working in early intervention (61%). Eighty-eight percent indicated awareness that CP can be diagnosed by 12 months. Though 86% stated they typically suspect a diagnosis of CP between 0 and 12 months, only 19% reported that their patients received a CP diagnosis < 12 months. The Developmental Assessment of Young Children (73%) and the Peabody Developmental Motor Scales-2 (59%) were used most. Many respondents indicated never using magnetic resonance imaging (70%), the General Movements Assessment (87%), or the Hammersmith Infant Neurological Exam (69%). Participants identified clinical signs and symptoms prompting a referral for the diagnostic assessment of CP, most commonly stiffness in legs (95%), excessive head lag (93%), and persistent fisting (92%). Policy and organizational change, clinician education, and training are needed to support the implementation of CP early detection guidelines. Full article