Neurological Presentation Research Articles

The clinical evolution of patients with idiopathic spinal cord herniation: a case series

Study designRetrospective case series of 48 patients.ObjectivesThis study’s primary objective was to provide a clinical description of a group of individuals with a working diagnosis of idiopathic spinal cord herniation (ISCH). The secondary objectives were to appreciate the natural history of these patients and describe their clinical evolution with conservative or surgical management.SettingThe study was carried out at l’Hôpital de l’Enfant-Jésus, CHU de Québec (Québec, Canada), a tertiary care university hospital.MethodsThis case series study is based on routinely collected data. Forty-eight (48) cases were identified as having an ISCH on MR imaging, between 2009 and 2019. Their medical files have been searched retrospectively. Patient characteristics were described according to their asymptomatic or symptomatic status.ResultsThe mean age of patients at the time of diagnosis was 52.5 years. Most of the patients identified were asymptomatic (69%) and followed clinically. The main neurologic presentation for the symptomatic group was Brown-Séquard-like syndrome. 20% of the symptomatic patients were rapidly treated surgically after consultation with the neurosurgeon. The mean follow-up duration was 56 months for asymptomatic patients and 51 months for symptomatic patients. Most of our patients (41 out of 45) were considered stable or unchanged at follow-up. There was no neurological progression in all asymptomatic patients.ConclusionsOur study shows that ISCH and its variants are not always symptomatic and may be a fortuitous finding. As the natural history may be non-progressive, it is probably appropriate to treat some cases expectantly.

Rapid Electroencephalography and Artificial Intelligence in the Detection and Management of Nonconvulsive Seizures

Nonconvulsive status epilepticus is a commonly overlooked cause of altered mental status. This study assessed nonconvulsive status epilepticus prevalence in emergency department (ED) patients with acute neurologic presentations using limited electroencephalogram (EEG) coupled with artificial intelligence (AI)-enhanced seizure detection technology. We then compared the accuracy of the AI EEG interpretations to those performed by an epileptologist. In a prospective observational cohort analysis, adult patients with unexplained mental status changes identified by emergency physicians received expedited placement of a limited EEG. Data collected encompassed patient demographics, clinical history, EEG interpretations by the AI algorithm and epileptologists, treatments, and disposition determinations. There were 134 device applications on 132 patients (2 received the device twice) enrolled in the study, but 16 were missing data critical for identification or analysis and 9 did not meet the selection criteria. Of the 108 limited EEGs interpreted by an epileptologist, 69 were abnormal (diffuse slowing, highly epileptiform patterns, or spikes and sharps), 41 were normal, 5 were uninterpretable, and 3 captured episodes of seizure or status epilepticus. Limited EEG AI interpretation detected >90% seizure burden in 2 of 3 cases of seizure or status epilepticus as well as in 2 abnormal EEGs and 1 normal EEG, providing a sensitivity of 66.7% (95% confidence interval 9.4 to 99.2), a specificity of 97.0% (95% confidence interval 91.5 to 99.4), and a disease prevalence of 2.9%. Limited AI-enhanced EEG can detect nonconvulsive status epilepticus in the ED; however, the technology tended to overestimate seizure burden in our cohort. This study found a lower nonconvulsive status epilepticus prevalence compared to prior literature reports.

Clinical and laboratory profile and outcome in children with Wilson disease: an observational study in South India

ABSTRACT Background Wilson disease is an autosomal recessive disorder owing to defective copper metabolism which causes abnormal accumulation of copper and damage to the liver, brain, kidneys and other organs. Aim To describe the clinical features, laboratory investigations and outcome of Wilson disease in children. Methods A retrospective observational study was conducted in the paediatric department of a tertiary- care hospital in South India by reviewing medical records between January 2018 and March 2023. The diagnosis of Wilson disease was confirmed by the presence of low serum ceruloplasmin and/or high urine copper excretion in combination with clinical and ophthalmological features. Results A total of 32 cases were analysed. The mean (SD) age at presentation was 110 (36) months with a M:F ratio of 1.6:1. Isolated hepatic involvement was seen in 19 (60%) patients while 13 (40%) patients had a neurological presentation, either as an isolated entity or in combination with hepatic manifestations. Low serum ceruloplasmin levels were detected in 31 (96%) patients. Urine copper levels were elevated in all patients. Twenty-one patients were commenced on D penicillamine while 11 patients were treated with a combination chelation therapy with zinc. Eighteen patients (56%) were on regular follow-up. Conclusion The clinical presentation of Wilson disease in children is diverse, varying from the more common hepatic or neurological manifestations to the less common atypical forms of the disease. Diagnosis is based on clinical and ophthalmological features in combination with biochemical abnormalities in the form of low ceruloplasmin and high urinary copper. The majority of patients can be medically managed with chelation therapy.

NeuroMix with MRA: A Fast MR Protocol to Reduce Head and Neck CTA for Patients with Acute Neurologic Presentations.

Overuse of CT-based cerebrovascular imaging in the emergency department and inpatient settings, notably CTA of the head and neck for minor and nonfocal neurologic presentations, stresses imaging services and exposes patients to radiation and contrast. Furthermore, such CT-based imaging is often insufficient for definitive diagnosis, necessitating additional MR imaging. Recent advances in fast MRI may allow timely assessment and a reduced need for head and neck CTA in select populations. We identified inpatients or patients in the emergency department who underwent CTAHN (including noncontrast and postcontrast head CT, with or without CTP imaging) followed within 24 hours by a 3T MRI study that included a 2.5-minute unenhanced multicontrast sequence (NeuroMix) and a 5-minute intracranial time of flight MRA) during a 9-month period (April to December 2022). Cases were classified by 4 radiologists in consensus as to whether NeuroMix and NeuroMix + MRA detected equivalent findings, detected unique findings, or missed findings relative to CTAHN. One hundred seventy-four cases (mean age, 67 [SD, 16] years; 56% female) met the inclusion criteria. NeuroMix alone and NeuroMix + MRA protocols were determined to be equivalent or better compared with CTAHN in 71% and 95% of patients, respectively. NeuroMix always provided equivalent or better assessment of the brain parenchyma, with unique findings on NeuroMix and NeuroMix + MRA in 35% and 36% of cases, respectively, most commonly acute infarction or multiple microhemorrhages. In 8/174 cases (5%), CTAHN identified vascular abnormalities not seen on the NeuroMix + MRA protocol due to the wider coverage of the cervical arteries by CTAHN. A fast MR imaging protocol consisting of NeuroMix + MRA provided equivalent or better information compared with CTAHN in 95% of cases in our population of patients with an acute neurologic presentation. The findings provide a deeper understanding of the benefits and challenges of a fast unenhanced MR-first approach with NeuroMix + MRA, which could be used to design prospective trials in select patient groups, with the potential to reduce radiation dose, mitigate adverse contrast-related patient and environmental effects, and lessen the burden on radiologists and health care systems.

Navigating the Complexities in Tuberculosis Management: A Case of Transverse Myelitis Masquerade

This case report underscores the intricate nature of diagnosing and treating neurological complications linked with tuberculosis (TB). Initially, a senior male with chronic obstructive pulmonary disease (COPD) was treated for lobar pneumonia, yet failed to show improvement. Further assessment revealed bilateral lower limb weakness and sensory disruptions post Anti Tubercular Therapy (ATT) initiation, suggestive of acute transverse myelitis (ATM). Prompt administration of corticosteroids alongside ATT led to substantial clinical amelioration, despite inconclusive radiological evidence. The case highlights the necessity of considering TB in unconventional neurological presentations, timely initiation of suitable therapy, and the potential benefits of a collaborative approach in enhancing patient outcomes.

Rituximab Therapy for Adult Refractory Systemic Lupus Erythematosus with Neurological and/or Psychiatric Presentations: A PRISMACompliant Meta-Analysis

Rituximab (RTX) is used off-label for refractory cases of systemic lupus erythematosus (SLE) with extrarenal activity, including neurological and/or psychiatric (N/P) presentations. However, evidence from randomized controlled trials is limited. This study aimed to conduct a pooled analysis of the effectiveness and safety of RTX therapy for adult refractory SLE with N/P manifestations. Electronic searches in PubMed, Epistemonikos, and ICTRP databases and statistical analysis were conducted in May 2023. Electronic searches identified 20 studies (25 reports). A total of 59 patients (53 females; 90%) were included, with a mean age of 33.5±10.6 years and a median disease duration of 3.5 years (range, 0.08 to 25.0) who were followed up post-RTX therapy for a median time of 12 months (range, 3.0 to 46.2). The rate of clinical response (partial or major) was 90% (95% CI, 83 to 96) (n = 57 patients). A third of responders relapsed after a median time of 9.5 months (range, 3.0 to 33.0). Pooled pre-RTX/post-RTX scores for Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) (n = 13) were 19±15/7±5 and for neurological British Isles Lupus Assessment Group (BILAG) (n = 29) were A/D (13), A/C (5), B/D (7), B/C (2), and A/A (2). Patients without mood disorder had a higher chance of clinical response {relative risk (RR) 1.4 (1.03 to 1.48)}. Patients who benefited the most from RTX therapy were those with psychosis (a higher chance of major clinical response; RR 1.9 (1.02 to 2.34)), without acute confusional state (a lower chance of relapse; RR 0.08 (0.006 to 0.791)), and with disease duration <3 years (a lower chance of relapse; RR 0.18 (0.014 to 0.992)). Infection rate during treatment was 33% (7/21). RTX therapy had good effectiveness. The pooled evidence for safety outcomes was limited and of low certainty.

AB049. Surgery for symptomatic spinal metastases-when, what and how?

Spine is the most common site for metastases in the skeletal system. Longer lifespans of patients with common cancers are translating into increasing incidence of patients with symptomatic spinal metastases. Surgery for spinal metastases offers immediate neurological decompression with stabilization and preservation of quality-of-life parameters. The objectives of the study were to assess the effect of pre-operative neurological condition, timing, and type of surgery on postoperative neurological function and long-term outcome as well as to analyze the various sources of primary in cases of symptomatic spinal metastases and the spinal level involved in terms of postoperative neurological function and ambulation. A retrospective analysis of all operated cases of symptomatic spinal metastases at our institute over a period of 5 years was performed. Parameters such as neurological presentation, timing of surgery, source of primary, and radiological features of the metastases were assessed and compared with the type of surgery performed, post-operative neurological function, and long-term outcome. The in-house hospital information system was to collect data. A total of 94 patients were operated on for symptomatic spinal metastases, the dorsal spine was the most common location and hematological malignancies were the most common primary overall and among men whereas breast was the most common primary in females. Overall, 64.8% of the patients had neurological motor deficits of which 72% had an improvement in motor power. We found that patients with a pre-operative motor power of 3/5 or more likely to have an improvement in post-operative neurological function and ambulatory status. Surgery for symptomatic spinal metastases plays a vital role in preserving the quality of life of the patients. Patients with preoperative motor power of 3/5, spastic tone, and features of mechanical back pain alone have good ambulatory outcomes post-spine surgery.

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

DNA polymerase subunit gamma (POLG) deficiency is likely the most frequent cause of nuclear-encoded mitochondrial disorders. POLG-related disorders reportedly constitute a spectrum of overlapping phenotypes from infancy to late adulthood. We retrospectively reviewed natural histories for 40 children carrying biallelic pathogenic POLG variants. The patients were identified by the French coordinating center for mitochondrial disorders (CARAMMEL), making this a large monocentric series on childhood-onset POLG deficiency. Three patterns of clinical course and survival were observed, distinguished by main category of symptoms: neurologic, hepatic, and gastrointestinal. A total of 24 patients needed urgent neurointensive care for tonic-clonic seizures, myoclonic epilepsy, and status epilepticus, occasionally precipitated by valproate administration. Other neurologic symptoms included dystonia, cerebellar ataxia, and peripheral neuropathy. We report 6 POLG-deficient patients with polyradiculoneuropathy mimicking subacute Guillain-Barré syndrome and provide postgadolinium MRI evidence of diffuse cranial nerve root and cauda equina enhancement, suggesting these disorders have an inflammatory component. Children presenting with enteral nervous system involvement had vomiting, gastroparesis, and chronic intestinal pseudo-obstruction. They had later ages of onset and lived much longer. Primarily, hepatic presentations had the earliest onset and shortest survivals. Secondary hepatic failure was frequently precipitated by valproate administration given before diagnosis to patients with focal impaired awareness seizures or absence of seizures. These POLG deficiencies were often fatal, with age at death ranging from 3 months to 10 years, with a significant difference in survival between the 3 clinical forms; 6 of the 40 children did survive. No genotype-phenotype correlations were found for the 3 clinical course types. The study demonstrates the prevalence of neurologic presentation and the extent of central, peripheral, and autonomous nervous system involvement in 60% of patients. Most of the patients with early onset and rapidly fatal hepatic failure did not live long enough to develop neurologic symptoms. The study revealed a new clinical form of POLG deficiency presenting with neurodigestive symptoms with longer lifespan. We also propose that POLG deficiency should be considered in children presenting with unexplained polyradiculoneuropathy, demyelinating neuropathy, and elevated CSF protein. Finally, valproate administration remains a notable cause of avoidable death in POLG-deficient patients.

Overview and Diagnostic Approach in Autoimmune Neurology.

The field of autoimmune neurology is rapidly evolving. This article reviews the epidemiology and pathophysiology as well as current approaches to clinical and paraclinical assessment, testing paradigms, and general principles of treatment. Improved recognition of autoimmune diagnoses among patients who have phenotypically diverse, subacute onset neurologic presentations is facilitated by disease-specific antibody biomarker discovery. These antibodies have varying associations with paraneoplastic causation (from no association to greater than 70% positive predictive value), immunotherapy responses, and outcomes. To simplify assessment in an increasingly complex discipline, neurologic phenotype-specific serum and CSF antibody evaluations are recommended. Clinical trials have led to the approval of monoclonal therapies for neuromyelitis optica spectrum disorder (NMOSD) and are underway for N-methyl-d-aspartate (NMDA) receptor and leucine-rich glioma inactivated protein 1 (LGI1) encephalitides. Autoimmune neurology is now a mainstream subspecialty, consisting of disorders with diverse presentations detectable using antibody testing of serum and CSF. Early and sustained immunotherapy (eg, corticosteroids, intravenous immunoglobulin [IVIg], plasma exchange) is recommended and may be supplemented by immune suppressants (eg, rituximab or cyclophosphamide) to sustain responses and optimize outcomes.

Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series.

Here, we report detailed clinicopathologic evaluation of 2 individuals with pathogenic variants in TBK1, including one novel likely pathogenic splice variant. We describe the striking diversity of clinical phenotypes among family members and also the brain and spinal cord neuropathology associated with these 2 distinct TBK1 variants. Two individuals with pathogenic variants in TBK1 and their families were clinically characterized, and the probands subsequently underwent extensive postmortem neuropathologic examination of their brains and spinal cords. Multiple affected individuals within a single family were found to carry a previously unreported c.358+3A>G variant, predicted to alter splicing. Detailed histopathologic evaluation of our 2 TBK1 variant carriers demonstrated distinct TDP-43 pathologic subtypes, but shared argyrophilic grain disease (AGD) tau pathology. Although all pathogenic TBK1 variants are associated with TDP-43 pathology, the clinical and histologic features can be highly variable. Within one family, we describe distinct neurologic presentations which we propose are all caused by a novel c.358+3A>G variant. AGD is typically associated with older age, but it has been described as a copathologic finding in other TBK1 variant carriers and may be a common feature in FTLD-TDP due to TBK1.

Clinical profile of Wilson Disease with Neurological Presentations : A cross sectional study in Bangladesh perspective

Clinical profile of Wilson Disease with Neurological Presentations : A cross sectional study in Bangladesh perspective

Neurological manifestations of ehrlichiosis among a cohort of patients: prevalence and clinical symptoms

BackgroundEhrlichiosis is a potentially fatal tick-borne disease that can progress to involve the central nervous system (CNS) (i.e., neuro-ehrlichiosis), particularly in cases where diagnosis and treatment are delayed. Despite a six-fold national increase in the incidence of ehrlichiosis over the past 20 years, recent data on the prevalence and manifestations of neuro-ehrlichiosis are lacking.MethodsWe conducted a retrospective chart review of all patients tested for ehrlichiosis at University of North Carolina Health facilities between 2018 and 2021 and identified patients who met epidemiological criteria for ehrlichiosis as established by the Council of State and Territorial Epidemiologists and employed by the Centers for Disease Control and Prevention. We estimated the prevalence of neurological symptoms and described the spectrum of neurological manifestations in acute ehrlichiosis, documenting select patient cases in more detail in a case series.ResultsOut of 55 patients with confirmed or probable ehrlichiosis, five patients (9.1%) had neurologic symptoms, which is notably lower than previous estimates. Neurological presentations were highly variable and included confusion, amnesia, seizures, focal neurological deficits mimicking ischemic vascular events, and an isolated cranial nerve palsy, though all patients had unremarkable neuroimaging at time of presentation. All but one patient had risk factors for severe ehrlichiosis (i.e., older age, immunosuppression).ConclusionsNeuro-ehrlichiosis may lack unifying patterns in clinical presentation that would otherwise aid in diagnosis. Clinicians should maintain a high index of suspicion for neuro-ehrlichiosis in patients with acute febrile illness, diverse neurological symptoms, and negative neuroimaging in lone star tick endemic regions.

Bilateral mydriasis as the first manifestation of Miller Fisher syndrome

Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS), characterised by a unique clinical triad of ophthalmoplegia, ataxia, and areflexia. MFS, which was first described in 1956 by Charles Miller Fisher , is frequently preceded by an infection, usually respiratory or gastrointestinal, and is believed to be triggered by an autoimmune reaction targeting peripheral nervous system components. However the MFS is further categorised into incomplete forms which can be present without the classical triad, such as acute ophthalmoparesis, acute ataxic neuropathy, acute ptosis and acute mydriasis. We report a case of a 50-year-old man presenting with dilated and unresponsive pupils, which progressed rapidly to ophthalmoplegia, ataxia, and areflexia. Given the clinical history supported by the cyto-protein dissociation in cerebrospinal fluid, the patient was diagnosed to have MFS and successfully treated with intravenous immunoglobulin. This case underscores the importance of recognising atypical features of MFS, such as primary mydriasis, and highlights the variable clinical spectrum within the syndrome. Clinicians should maintain a high index of suspicion for MFS, particularly when faced with unusual neurological presentations, to ensure timely intervention and optimal patient outcomes.

A cross-sectional study on clinical characteristics and severity of children with COVID-19 admitted to a teaching institute in North India.

SARS-CoV-2 infection presentation in children is usually milder than in adults but can be severe and fatal as well. Data on the pediatric population regarding severity and clinical presentation are still limited, and there is a need to have a better understanding of clinical features, severity, and laboratory parameters. To document clinical and laboratory characteristics and outcomes of children with SARS-CoV-2 in a low-middle-income country and to evaluate clinicodemographic factors and biochemical markers associated with severity and mortality. A hospital-based cross-sectional study was conducted among 112 COVID-19-positive children at a designated Level-3 center in North India. Clinical characteristics, laboratory parameters, and severity of COVID-19 cases as well as factors associated with the severity of the disease, were analyzed by descriptive statistics and a Chi-square test. The adolescent age group (age 12-18 years) was affected most (64.3%). Male patients accounted for 56.3% of total cases. Fever was the most common symptom (41.1%) followed by cough. Presenting complaints were highest from the respiratory system (32.1%) followed by the gastrointestinal (8.9%) and the neurological system (7.1%). Majority of patients had mild disease (87%) while 13% had the moderate-severe disease. Spo2 < 95% (P = 0.00001), neutrophilia (P < 0.000001), lymphopenia (P < 0.000001), elevated values of C-reactive protein (P < 0.00001), Interleukin-6 (P = 0.002), D- dimer (P = 0.00014) and respiratory symptoms as presenting complaints (P < 0.000001) were found to be significantly associated with severity of disease. The male and adolescent age group was affected most. Presenting complaints were highest from the respiratory system. Unusual presentation may have gastrointestinal or neurological presentation. Most children with COVID-19 had mild disease. Moderate to severe disease was not uncommon. Factors including neutrophilia, lymphopenia, elevated lab values of C-reactive protein, D-dimer, and interleukin-6 had a significant association with the severity of the disease. These biomarkers can help predict the severity of the disease.

Neurological phenotypes and treatment outcomes in Eagle syndrome: systematic review and meta-analysis.

Eagle syndrome is caused by an elongated styloid process affecting carotid arteries and cranial nerves. Pain, dysphagia, tinnitus, paresthesia (classic subtype), and neurovascular events (vascular subtype) may be triggered by head movements or arise spontaneously. However, Eagle syndrome remains underappreciated in the neurological community. We aimed to determine the most common neurological and non-neurological clinical presentations in patients with Eagle syndrome and to assess the clinical outcome post-surgical resection in comparison to non-surgical therapies. We conducted a systematic review of patient-level data on adults with Eagle syndrome, following PRISMA guidelines. We extracted data on demographics, presenting symptoms, neurological deficits, radiological findings, and treatments, including outcomes and complications, from studies in multiple indexing databases published between 2000 and 2023. The study protocol is registered with PROSPERO. In total, 285 studies met inclusion criteria, including 497 patients with Eagle syndrome (mean age 47.3 years; 49.8% female). Classical Eagle (370 patients, 74.5%) was more frequent than vascular Eagle syndrome (117 patients, 23.5%, p < 0.0001). Six patients (1.2%) presented with both variants and the subvariant for four patients (0.8%) was unknown. There was a male preponderance (70.1% male) in the vascular subtype. A history of tonsillectomy was more frequent in classic (48/153 cases) than in vascular (2/33 cases) Eagle syndrome (Odds Ratio 5.2, 95% CI [1.2-22.4]; p = 0.028). By contrast, cervical movements as trigger factors were more prevalent in vascular (12/33 cases) than in classic (7/153 cases) Eagle syndrome (Odds Ratio 7.95, 95% CI [2.9-21.7]; p = 0.0001). Headache and Horner syndrome were more frequent in vascular Eagle syndrome and dysphagia and neck pain more prominent in classic Eagle syndrome (all p < 0.01). Surgically treated patients achieved overall better outcomes than medically treated ones: Eighty-one (65.9%) of 123 medically treated patients experienced improvement or complete resolution, while the same applied to 313 (97.8%) of 320 surgical patients (Odds Ratio 1.49, 95% CI [1.1-2.0]; p = 0.016). Eagle syndrome is underdiagnosed with potentially serious neurovascular complications, including ischemic stroke. Surgical treatment achieves better outcomes than conservative management. Although traditionally the domain of otorhinolaryngologist, neurologist should include this syndrome in differential diagnostic considerations because of the varied neurological presentations that are amenable to effective treatment.

Analysis of Inflammatory Markers and Electroencephalogram Findings in Pediatric Patients with COVID-19: A Single-Center Study in Korea

Purpose: The Omicron variant wave spread rapidly from February 2022 in South Korea following the initial management of the coronavirus disease 2019 (COVID-19) outbreak. This study examined electroencephalogram (EEG) findings and serological inflammatory markers in pediatric patients with COVID-19 (Omicron variant).Methods: We retrospectively reviewed the medical records of 41 patients who presented at Gyeongsang National University Changwon Hospital between March and May 2022 and were diagnosed with COVID-19. All serological tests were performed within 24 hours of fever or seizure onset. Results: The median patient age was 3.6 years (range, 0.08 to 14.00), and the average hospital stay was 3.7 days (range, 1.0 to 7.0). Interleukin-6 (IL-6) levels were elevated above the normal range in all patients (median, 43.18 pg/mL; range, 7.0 to 190.0) and were higher among those who experienced seizures. Of the 41 total patients, 17 (41.5%; mean age, 5.4 years) visited the clinic for seizure. Three patients experienced prolonged seizures (lasting longer than 30 minutes) and received intravenous lorazepam, while eight presented with complex febrile seizures. Nine patients underwent EEG, of whom five exhibited abnormal initial findings. Linear regression demonstrated correlations between prolonged seizure duration and both serum IL-6 level and blood lymphocyte count.Conclusion: Numerous serological markers associated with the immune cascade were found to be elevated in children with COVID-19. Nevertheless, febrile seizures represent a relatively common neurological presentation among pediatric patients infected with Omicron variants. Consequently, COVID-19 infection exhibits both familiar and distinct characteristics regarding the mechanisms inducing seizures and fever in children.

Dynamics of Trypanosoma cruzi infection in hamsters and novel association with progressive motor dysfunction.

Chagas disease is a zoonosis caused by the protozoan parasite Trypanosoma cruzi. Clinical outcomes range from long-term asymptomatic carriage to cardiac, digestive, neurological and composite presentations that can be fatal in both acute and chronic stages of the disease. Studies of T. cruzi in animal models, principally mice, have informed our understanding of the biological basis of this variability and its relationship to infection and host response dynamics. Hamsters have higher translational value for many human infectious diseases, but they have not been well developed as models of Chagas disease. We transposed a real-time bioluminescence imaging system for T. cruzi infection from mice into female Syrian hamsters (Mesocricetus auratus). This enabled us to study chronic tissue pathology in the context of spatiotemporal infection dynamics. Acute infections were widely disseminated, whereas chronic infections were almost entirely restricted to the skin and subcutaneous adipose tissue. Neither cardiac nor digestive tract disease were reproducible features of the model. Skeletal muscle had only sporadic parasitism in the chronic phase, but nevertheless displayed significant inflammation and fibrosis, features also seen in mouse models. Whereas mice had normal locomotion, all chronically infected hamsters developed hindlimb muscle hypertonia and a gait dysfunction resembling spastic diplegia. With further development, this model may therefore prove valuable in studies of peripheral nervous system involvement in Chagas disease.

Hypothalamic Hemangioma-like Pilocytic Astrocytoma in an Adult Patient: A Systematic Review with a Focus on Differential Diagnosis and Neurological Presentation.

Background: Pilocytic astrocytoma (PCA) are commonly observed as slow-growing noncancerous brain tumors in pediatric populations, but they can also occur in adults, albeit rarely. When located in diencephalic regions, particularly in the hypothalamus, they present unique diagnostic and management challenges due to their rarity and overlapping clinical and radiological features with other intracranial pathologies. This systematic review aims to provide a comprehensive understanding of hypothalamic PCA in adults, focusing on their differential diagnosis, neurological presentation, diagnostic modalities, treatment strategies. A case illustration is also described in order to better underline all the difficulties related to the diagnostic process. Material and methods: A systematic literature search was conducted in the PubMed/MEDLINE, Embase, and Scopus databases up to November 2023 to identify studies. Results: The systematic literature search identified a total of 214 articles. Following screening by title and abstract and full-text review, 12 studies were deemed eligible and are included here. Conclusions: Adult-onset PCA in diencephalic regions pose diagnostic challenges due to their rarity and overlapping features with other intracranial lesions. Advanced imaging techniques play a crucial role in diagnosis, while surgery remains the cornerstone of treatment. Multidisciplinary collaboration is essential for the optimal management and long-term follow-up of these patients.

Adrenal mass with neurological presentation

Adrenal mass with neurological presentation

Clinical drivers of hospitalisation in patients with mitochondrial diseases

BackgroundMitochondrial diseases in adults are generally chronic conditions with a wide spectrum of severity contributing to disease burden and healthcare resource utilisation. Data on healthcare resource utilisation in mitochondrial diseases...