Acute hemichorea as unusual first multiple sclerosis presentation

Patient 1 was a 39-year-old woman with an unremarkable medical history who developed acute involuntary right arm and leg movements. Neurologic examination revealed moderate dysarthria and subcontinuous, choreic movements in her right limbs, prevailing in the arm, which worsened during postural tasks. She occasionally had ballistic movements in her right limbs and abnormal dystonic postures. Continuous peribuccal and tongue involuntary movements were noted. Moreover, bilateral upper limb ataxia, gait and trunk ataxia, and brisk right tendon reflexes were found. There was no strength or sensory loss (video 1 at Neurology.org/cp). Brain MRI revealed a tumefactive, T2/fluid-attenuated inversion recovery (FLAIR) hyperintense, T1 hypointense contrast-enhancing demyelinating lesion in the left cerebral peduncle, extending to the substantia nigra and subthalamic nucleus (STN) (figure, A-C). Multiple hyperintense T2/FLAIR, T1 hypointense, non-contrast-enhancing demyelinating lesions in the hemispheric and periventricular deep white matter, brainstem, and cerebellar hemispheres were also found. All serologic tests were within normal limits. Isoelectric focusing (IEF) revealed 9 CSF oligoclonal bands (OCBs). A diagnosis of multiple sclerosis (MS) was made and the patient was treated with high-dose methylprednisolone with improvement of symptoms

Out-of-hospital versus in-hospital status epilepticus: the role of etiology and comorbidities

Background: To identify differences in clinical characteristics between patients with out-of-hospital and in-hospital status epilepticus (SE) onset, and to evaluate the influence of SE onset setting on 30-day mortality and SE cessation. Methods: We included consecutive patients with SE admitted from 2013 to 2021 at Modena Academic Hospital. A propensity score was performed with clinical variables unevenly distributed between the two groups. Results: 711 patients were included; 55.8% (397/711) with an out-of-hospital and 44.2% (314/711) with an in-hospital onset. Patients with in-hospital SE onset were older, had a higher frequency of comorbidities, acute and/or potentially fatal etiologies, impaired consciousness before treatment, and nonconvulsive or myoclonic SE. No difference was found in SE cessation between the groups. Patients with in-hospital SE had higher 30-day mortality (127/314, 62.9% versus 75/397, 37.1; p <0.001). In-hospital onset was an independent risk factor for 30-day mortality (adjusted OR of 1.720; 95% CI: 1.107-2.674; p = 0.016). In the propensity group (n = 244), no difference was found in 30-day mortality and SE cessation between out-of-hospital and in-hospital SE onset groups (36/122, 29.5% versus 34/122, 27.9%; p=0.888; and 47/122, 38.5% versus 39/122; 32%; p = 0.347, respectively). Conclusion: In-hospital SE is associated with higher 30-day mortality without difference in SE cessation. The two groups differ considerably for age, acute and possibly fatal etiologies, comorbidities, and SE semiology. The patient location at SE onset is an important prognostic predictor. However, the increased mortality is probably unrelated to the setting of SE onset and reflects intrinsic prognostic predictors

Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic–atonic epilepsy and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a patient with a novel NEXMIF de novo mutation presenting with recurrent absence status with eyelid myoclonia, to reveal brain structural and functional changes that can bring the clinical phenotype to alteration within specific brain networks. Indeed, the alterations found in the patient involved the visual pericalcarine cortex and the middle frontal gyrus, regions that have been demonstrated to be a core feature in epilepsy phenotypes with visual sensitivity and eyelid myoclonia with absences

New-Onset Refractory Status Epilepticus with Claustrum Damage: Definition of the Clinical and Neuroimaging Features

New-onset refractory status epilepticus (NORSE) is a rare but challenging condition occurring in a previously healthy patient, often with no identifiable cause. We describe the electro-clinical features and outcomes in a group of patients with NORSE who all demonstrated a typical magnetic resonance imaging (MRI) sign characterized by bilateral lesions of the claustrum. The group includes 31 patients (12 personal and 19 previously published cases; 17 females; mean age of 25 years). Fever preceded status epilepticus (SE) in 28 patients, by a mean of 6 days. SE was refractory/super-refractory in 74% of the patients, requiring third-line agents and a median of 15 days staying in an intensive care unit. Focal motor and tonic-clonic seizures were observed in 90%, complex partial seizures in 14%, and myoclonic seizures in 14% of the cases. All patients showed T2/FLAIR hyperintense foci in bilateral claustrum, appearing on average 10 days after SE onset. Other limbic (hippocampus, insular) alterations were present in 53% of patients. Within the personal cases, extensive search for known autoantibodies was inconclusive, though 7 of 11 patients had cerebrospinal fluid lymphocytic pleocytosis and 3 cases had oligoclonal bands. Two subjects died during the acute phase, one in the chronic phase (probable sudden unexplained death in epilepsy), and one developed a persistent vegetative state. Among survivors, 80% developed drug-resistant epilepsy. Febrile illness-related SE associated with bilateral claustrum hyperintensity on MRI represents a condition with defined clinical features and a presumed but unidentified autoimmune etiology. A better characterization of de novo SE is mandatory for the search of specific etiologies

Amygdala subnuclear volumes in temporal lobe epilepsy with hippocampal sclerosis and in non-lesional patients

Together with hippocampus, the amygdala is important in the epileptogenic network of patients with temporal lobe epilepsy. Recently, an increase in amygdala volumes (i.e. amygdala enlargement) has been proposed as morphological biomarker of a subtype of temporal lobe epilepsy patients without MRI abnormalities, although other data suggest that this finding might be unspecific and not exclusive to temporal lobe epilepsy. In these studies, the amygdala is treated as a single entity, while instead it is composed of different nuclei, each with peculiar function and connection. By adopting a recently developed methodology of amygdala's subnuclei parcellation based of high-resolution T-1-weighted image, this study aims to map specific amygdalar subnuclei participation in temporal lobe epilepsy due to hippocampal sclerosis (n = 24) and non-lesional temporal lobe epilepsy (n = 24) with respect to patients with focal extratemporal lobe epilepsies (n = 20) and healthy controls (n = 30). The volumes of amygdala subnuclei were compared between groups adopting multivariate analyses of covariance and correlated with clinical variables. Additionally, a logistic regression analysis on the nuclei resulting statistically different across groups was performed. Compared with other populations, temporal lobe epilepsy with hippocampal sclerosis showed a significant atrophy of the whole amygdala (p(Bonferroni) = 0.040), particularly the basolateral complex (p(Bonferroni) = 0.033), while the non-lesional temporal lobe epilepsy group demonstrated an isolated hypertrophy of the medial nucleus (p(Bonferroni) = 0.012). In both scenarios, the involved amygdala was ipsilateral to the epileptic focus. The medial nucleus demonstrated a volume increase even in extratemporal lobe epilepsies although contralateral to the seizure onset hemisphere (p(Bonferroni) = 0.037). Non-lesional patients with psychiatric comorbidities showed a larger ipsilateral lateral nucleus compared with those without psychiatric disorders. This exploratory study corroborates the involvement of the amygdala in temporal lobe epilepsy, particularly in mesial temporal lobe epilepsy and suggests a different amygdala subnuclei engagement depending on the aetiology and lateralization of epilepsy. Furthermore, the logistic regression analysis indicated that the basolateral complex and the medial nucleus of amygdala can be helpful to differentiate temporal lobe epilepsy with hippocampal sclerosis and with MRI negative, respectively, versus controls with a consequent potential clinical yield. Finally, the present results contribute to the literature about the amygdala enlargement in temporal lobe epilepsy, suggesting that the increased volume of amygdala can be regarded as epilepsy-related structural changes common across different syndromes whose meaning should be clarified

Comparison of diet consumption, body composition and lipoprotein lipid values of Kuwaiti fencing players with international norms

<p>Abstract</p> <p>Background</p> <p>No published data is currently available that describes the dietary patterns or physiological profiles of athletes participating on the Kuwaiti national fencing team and its potential impact on health and physical performance. The purpose of this investigation was to: 1) collect baseline data on nutrient intake 2) collect, analyze and report baseline for body composition, plasma lipid and lipoprotein concentrations during the competitive season, 3) compare the results with the international norms, 4) and provide necessary health and nutritional information in order to enhance the athletes' performance and skills.</p> <p>Methods</p> <p>Fifteen national-class fencers 21.5 ± 2.6 years of age participated in this study. Food intake was measured using a 3-day food record. Body composition was estimated using both the BOD POD and Body Mass Index (BMI). Total blood lipid profiles and maximum oxygen consumption was measured for each of the subjects during the competitive season.</p> <p>Results</p> <p>The results of the present study showed significant differences in dietary consumption in comparison with the recommended dietary allowances (RDA). The blood lipids profile and body composition (BMI and % body fat) were in normal range in comparison with international norms However, the average VO_{2 max}value was less than the value of the other fencers.</p> <p>Conclusion</p> <p>Due to the results of the research study, a dietary regimen can be designed that would better enhance athletic performance and minimize any health risks associated with nutrition. Percent body fat and BMI will also be categorized for all players. In addition, the plasma blood tests will help to determine if any of the players have an excessive level of lipids or any blood abnormalities. The outcomes of present study will have a direct impact on the players health and therefore their skills and athletic performance.</p

Biomarcatori sierici, liquorali e neuroradiologici per la diagnosi e la prognosi in pazienti adulti con Stato Epilettico

Lo Stato Epilettico (SE) è una frequente emergenza neurologica caratterizzata da elevata morbidità e mortalità nel breve termine. Biomarcatori prognostici e diagnostici possono aiutare nella valutazione e nella gestione di questi pazienti. Un approccio multimodale, che aggiunga, a fianco della valutazione clinico-elettroencefalografica, la misurazione di biomarcatori neuroradiologici e di danno neuro-gliale può permettere di migliorare l’identificazione di coloro che svilupperanno sequele a breve e lungo termine ed assistere la diagnosi, specialmente nei casi più dubbi. Scopi dello studio: 1. Determinare i patterns perfusionali di CT (CTP) dello SE e definirne il ruolo diagnostico nei casi di SE non convulsivo (NCSE); 2. Definire i livelli sierici e liquorali di biomarcatori di danno neuro-gliale e valutarne il ruolo prognostico; 3. Definire l’utilità di un approccio multimodale nella diagnosi e prognosticazione dello SE. I pazienti arruolati sono stati sottoposti a prelievo sierico durante lo SE, entro 72 ore dalla sua diagnosi per la misurazione di Neurofilamenti a catena leggera (NfL) e di proteina S100B. Gli stessi biomarcatori sono stati misurati nei gruppi di controllo: controlli sani (HC) e pazienti con diagnosi di epilessia (EP) omogenei per età e genere. Le misure di outcome misurate sono: mortalità e livello di disabilità a 30 giorni dallo SE, sviluppo di refrattarietà al trattamento e sviluppo di epilessia. Nei pazienti con NCSE, è stata effettuata un’analisi delle caratteristiche dei patterns perfusionali ed EEG. Ventuno pazienti con NCSE sono stati studiati con CTP ed EEG. In 18 pazienti (86%) è stato evidenziato un pattern di iper-perfusione ed è stata osservata una concordanza spaziale perfetta (100%) tra la sede multilobare dell’iper-perfusione e la sede dell’attività critica focale all’EEG. Tutti i pazienti con patterns epilettici continui all’EEG (12 pazienti) presentavano un pattern di iper-perfusione mentre soltanto 3 su 6 (50%) con patterns EEG discontinui (WWP) avevano iper-perfusione (χ², p = 0.03). Per 87 pazienti è stato possibile ottenere i livelli sierici di Nfl e S100B. Nei pazienti con SE, i livelli di entrambi i biomarcatori sono risultati significativamente maggiori rispetto a quelli rilevati nei gruppi di controllo (p 70.25 pg/ml sono risultati un predittore indipendente di mortalità a 30 giorni dopo correzione per età e refrattarietà (OR 6 95% CI 1-36.12 p = 0.05); NfL > 33.4 pg/ml sono risultati predittore indipendente (dopo correzione per età) di sviluppo di disabilità a 30 giorni (OR 3.9 95% CI 1.41-10.64 p = 0.009); NfL > 19.75 pg/ml si sono mostrati un predittore di sviluppo di refrattarietà al trattamento (OR 8.2 95% CI 2.08-32.58 p = 0.003). I livelli sierici di S100B invece sono risultati essere significativamente maggiori nei pazienti deceduti o peggiorati clinicamente ma non sono risultati essere predittori per questi ouctomes. SE responsivi e refrattari non hanno presentato differenze significative nei livelli di S100B. Comparando coloro che hanno sviluppato un’epilessia a coloro per i quali lo SE ha rappresentato un evento isolato, non si sono osservate differenze significative nei livelli di NfL mentre i livelli di S100B sono risultati significativamente ridotti in coloro che hanno sviluppato epilessia successivamente. Tuttavia nessuno dei due biomarcatori rappresenta un predittore di sviluppo di epilessia dopo uno SE. In conclusione, i patterns CT di iper-perfusione rappresentano un biomarcatore neuroradiologico per supportare la diagnosi di NCSE utile soprattutto nei casi più dubbi. Inoltre, i livelli sierici di NfL sono utili per la prognosticazione in termini di mortalità e morbidità a breve termine e sviluppo di refrattarietà al trattamento.Status Epilepticus (SE) is a common neurological emergency characterized by high short-term morbidity and mortality. Identifying diagnostic and prognostic biomarkers could help in the evaluation and management of SE patients. Beside clinico-electroencefalographic evaluation, a multimodal approach based, on the measurement of neuro-glial injury biomarkers and on the identification of acute neuroimaging alterations related to SE could help both rapidly identifying those patients who will eventually develop short- and long-term consequences of SE and assisting the diagnosis in more doubtful cases. This study aims to: 1. determine the cerebral CT perfusion (CTP) patterns correlated to SE and define their role in supporting the diagnosis of NCSE; 2. define the profile changes of serum and CSF biomarkers of neuro-glial degeneration and their potential prognostic role; 3. define the usefulness of such a multimodal evaluation to improve SE treatment in clinical practice. This is a prospective monocentric collection of adult patients with SE. Enrolled patients underwent to the acquisition of serum samplings during SE within 72 hours from its diagnosis. In these samplings neuro-glial injury biomarkers (neurofilament light chain, NfL, and S100B) were measured. The same fluids’ biomarkers were measured in control groups: age and sex-matched healthy controls (HC) and epileptic patients (EP). Outcome measures were: 30 days mortality and disability, treatment refractoriness and epilepsy development. In NCSE, an analysis of the characteristics of CTP and EEG patterns and their relationship was then made. Twenty-one focal NCSE patients were studied with CTP and EEG in the acute phase. Eighteen patients (86%) had focal hyper-perfusion patterns and 3 (14%) a normo-perfusion patterns. In patients with hyper-perfusion patterns there was a perfect (100%) concordance in spatial localization of focal multilobar cortical hyper-perfusion and focal ictal activity. Among the hyper-perfused patients, all the 12 patients with continuous pattern (CP) showed cortical hyper-perfusion while only 3 out of 6 (50%) with waxing and waning pattern (WWP) had cortical hyper-perfusion (χ², p = 0.03). In 87 SE patients serum levels of NfL and S100B were measured. In SE group, serum levels of NfL and S100B were significantly higher compared to those of EP and HC (p < 0.001). NfL above 70.25 pg/ml were found to be an independent predictor of 30 days mortality after correction for age and treatment refractoriness (OR 6 95% CI 1-36.12 p = 0.05); NfL above 33.4 pg/ml showed to be an independent predictor of 30 days disability after correction for age (OR 3.9 95% CI 1.41-10.64 p = 0.009); NfL above 19.75 pg/ml appeared as an independent predictor of refractoriness development (OR 8.2 95% CI 2.08-32.58 p = 0.003). Serum S100B levels appeared significantly higher in patients who died and in those who worsened within 30 days even though they did not appeared to be predictors for these outcome. Moreover, no significant differences were found in serum levels of S100B between responsive and refractory SE. Comparing those who developed epilepsy compared to those for which the SE remained an isolated event, no differences in serum NfL levels were found while serum levels of S100B were significantly lower in patients who developed epilepsy. Nevertheless, neither NfL nor S100B were found to be predictors of epilepsy development after SE. In conclusion, hyper-perfusion CTP patterns represent a biomarker to assist and support the diagnosis of NCSE in the emergency department setting, especially in doubtful cases. Serum NfL levels seem to be helpful for the prognostication in terms of short-term mortality, functional outcome and refractoriness development

Status Epilepticus and Neurosyphilis: A Case Report and a Narrative Review

Neurosyphilis is a rare but life-threatening complication of syphilis that can develop even decades after the primary infection and can be unrecognized. Seizures and status epilepticus (SE) may represent the first manifestation in a previously undiagnosed syphilitic patient. We present an exemplification case of a new onset refractory status epilepticus caused by neurosyphilis and we reviewed the existing literature. We selected all studies reporting cases of SE in the context both of patients with a known diagnosis of syphilis and as the first manifestation of neurosyphilis. We identified 50 patients, mostly composed of immunocompetent, middle-aged males. Thirty-nine patients (83%) presented a new onset SE. A history of subtle and rapidly progressive mood and/or cognitive impairment suggesting a limbic encephalitis-like presentation was frequently observed. Focal frontal or temporal SE was reported in 26. Brain MRI frequently showed T2/FLAIR hyperintensities widely involving the medial temporal structures and the frontal lobes. This review should increase the clinician’s awareness of neurosyphilis as a possible etiology of a new onset SE of unknown etiology, especially in the context of a “limbic encephalitis”-like clinical presentation. Prompt recognition and treatment for neurosyphilis partially or completely reverse neurologic sequelae, changing the natural history of the disease

Ictal asystole as the first presentation of epilepsy: A case report and systematic literature review

We report the case of a 69-year-old woman who presented with recurring episodes of mental confusion/dizziness followed by loss of consciousness, intense pallor, and sweating. Cardiologic investigations were unremarkable. The electroencephalogram recorded during one typical episode allowed the demonstration of a right frontotemporal seizure with progressive bradycardia leading to a 9-second asystole. Following levetiracetam treatment up to 2500 mg/day, seizures with ictal asystole (IA) recurred. An MRI compatible pacemaker was then implanted. At 26-month follow-up, the patient has not had further episodes of loss of consciousness. A systematic review (1950–Apr 2014) searching for cases in which IA was an early manifestation of epilepsy led to the observation of 31 cases. The time lag between the first seizures and the correct diagnosis of IA was long (average: 27 months; median: 12 months). Clinical history alone was not sufficient to prompt a correct diagnosis of IA, and only 11 out of 31 cases presented with symptoms suggestive of a seizure disorder. The majority of patients had a frontotemporal epilepsy with a slight prevalence of left-side involvement (19 out of 31). Ictal bradycardia–asystole is an important condition that should be recognized by epileptologists, neurologists, as well as emergency department physicians. It is important to underscore that IA not only can occur in patients with drug-resistant epilepsy but also may be the first manifestation of the patient's epilepsy