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INTRODUCTION: Protein S deficiency and coronavirus disease 2019 (COVID-19) are rare etiologies of ischemic stroke. We describe a case of an ischemic stroke revealing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in a patient with a history of protein S deficiency and cerebral imaging suggestive of vasculitis. CASE REPORT: A 52-year-old woman, with history of protein S deficiency, was admitted for right hemiparesis and aphasia that happened 6 hours before her consultation. Her National Institutes of Health Stroke Scale (NIHSS) was 11. She had hypoxia (SpO2 93%). COVID-19 polymerase chain reaction was positive. Cerebral computed tomography scan showed an ischemic stroke in the territory of the superficial left middle cerebral artery. The recommended time period for thrombolysis was exceeded and we did not dispose of sufficient resources to deliver thrombectomy. She was treated with aspirin, statins, antibiotic therapy, and oxygen. Considering the high risk of thromboembolic complications and the history of protein S deficiency, anticoagulation treatment with heparin followed by acenocoumarol was started. Evolution was marked by the appearance of 24 hours regressive, acute symptoms of confusion. Brain magnetic resonance imaging showed new ischemic strokes in both anterior cerebral arteries and on magnetic resonance angiography narrowing of the left internal carotid artery and both anterior cerebral arteries suggestive of vasculitis was seen. We maintained anticoagulation and prescribed methylprednisolone 500 mg daily for 3 days. Evolution was marked by improvement of clinical deficit and respiratory status. CONCLUSIONS: SARS-CoV-2 infection potentializes the prothrombotic effect and vascular inflammation by accentuating protein S deficit. The place of steroids seems justifiable in the presence of symptoms of vasculitis in brain imaging.

Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X-linked genetic conditions; however, personal health risks (PHR) can also be identified through this testing. There is limited data on how genetic counseling regarding PHR from ECS is perceived by the individual, or how they use this information. This study quantitatively surveyed individuals identified with these risks between September 2013 and March 2020. The 30-item survey included the validated Genomics Outcome Scale Short Form, the validated Genetic Counseling Satisfaction Scale, and original questions. Survey topics included pre-test knowledge of the possibility of discovering PHR through testing, satisfaction with pre-test education that addresses potential risks, perceived severity of PHR, empowerment by and understanding of information, anxiety levels related to their PHR, perceived genetic counseling support, and satisfaction with telehealth. A total of 416 completed surveys were analyzed using descriptive statistics, and linear and logistic regressions. The majority of participants were satisfied or extremely satisfied with pre-test education (n = 328; 78.8%) and telehealth (n = 329; 79.1%). However, more participants who were aware of the possibility of identifying PHR through ECS prior to testing were satisfied with pre-test education compared to those who were not aware. Additionally, a lack of prior awareness of PHR was associated with lower empowerment scores (p = .004). Those who were highly satisfied with genetic counseling were more likely to feel empowered and understand the information presented (p = .001). The majority of individuals used their PHR information following their results appointment (n = 391; 94.0%). The results of this study suggest that receiving PHR information was useful and was positively influenced by both pre-test education and the genetic counseling process.

Lysosomal storage diseases (LSDs) are a heterogeneous group of conditions causing substrate accumulation leading to progressive organ damage. Newborn screening (NBS) for several LSDs has become available in recent years due to advances in technology and treatment availability. While early initiation of treatment is lifesaving for those with infantile presentations, controversy continues regarding diagnosis of milder, later-onset diseases in infancy, including creation of pre-symptomatic populations of 'patients-in-waiting', the potential for medicalization, stigmatization, and/or discrimination. In-depth interviews were conducted with 36 adults [11 with Fabry disease (FD), 8 with Gaucher disease (GD), and 17 with late-onset Pompe disease (LOPD)], to determine their perspectives on NBS for their respective conditions. Thirty-four of 36 participants were in favor of NBS; both participants not in favor had GD1. Emergent themes influencing participants favorably toward NBS included earlier age of onset, a long diagnostic odyssey, less efficacious treatment, and the desire to have made different life decisions (e.g., relationships, career, or lifestyle) with the knowledge of their diagnosis. Concerns about insurance discrimination and psychological or physical burdens were associated with less favorable opinions of NBS. The ability for parents to make future reproductive decisions based their child's NBS result was considered favorably by some participants and unfavorably by others. Participants' specific condition (GD1, FD, or LOPD) contributed to these experiences differently. Participants with LOPD and FD favored NBS to initiate earlier treatment and prevent irreversible organ damage, whereas fewer patients with GD1 mentioned this benefit. Participants with LOPD had the longest diagnostic odyssey, while those with FD were more likely to report feeling misunderstood and experiencing accusations of malingering, both contributing to favorable views of NBS. Results expand prior quantitative findings by illuminating how participants' lived experiences can shape opinions about NBS. By understanding how currently affected individuals perceive the lifelong impact of a NBS result, genetic counselors can provide better anticipatory guidance to the parents of individuals diagnosed with a later-onset LSD by NBS.

The present pilot study examines subjective reported symptoms of attention-deficit/hyperactivity (AD/H) in adults with Fabry disease (FD) in comparison with existing normative control data. Existing data from 69 adults with FD via the Achenbach System of Empirically Based Assessment Adult Self-Report questionnaire were analyzed. The results demonstrated a higher prevalence of AD/H symptoms in adults with FD than in the general United States population, with a roughly equal endorsement of Inattention/Attention Deficit symptoms (AD), Hyperactivity-Impulsivity (H-I) symptoms, and Combined Inattention/hyperactivity-impulsivity (C) symptoms. No gender differences were observed. While all subjects endorsing H-I symptoms fell into the symptomatic range on the AD/H scale, only two-thirds of subjects endorsing AD did so. This suggests that attention difficulties with FD are not solely explained by ADHD. Adults with FD who endorsed the AD, H-I, and C symptoms were also more likely to report mean adaptive functioning difficulties. These findings support the growing literature regarding attention difficulties in adults with FD, as well as suggesting a previously unrecognized risk of AD/H symptoms. Future research involving the objective assessment of ADHD in adults with FD is recommended. When serving adults with FD clinically, healthcare professionals should address multiple areas of care, including physical, psychological, and cognitive arenas.

The addition of Pompe disease (PD) and other conditions with later-onset forms to newborn screening (NBS) in the United States (US) has been controversial. NBS technology cannot discern infantile-onset PD (IOPD) from later-onset PD (LOPD) without clinical follow-up. This study explores genetic health care practitioners' (HCPs) experiences and challenges providing NBS patient care throughout the US and their resultant opinions on NBS for PD. An online survey was distributed to genetic counselors, geneticists, NBS follow-up care coordinators, and nurse practitioners caring for patients with positive NBS results for PD. Analysis of 78 surveys revealed the majority of participating HCPs support inclusion of PD on NBS. Almost all HCPs (93.3%) feel their state has sufficient resources to provide follow-up medical care for IOPD; however, only three-fourths (74.6%) believed this for LOPD. Common barriers included time lag between NBS and confirmatory results, insurance difficulties for laboratory testing, and family difficulties in seeking medical care. HCPs more frequently encountered barriers providing care for LOPD than IOPD (53.9% LOPD identified ≥3 barriers, 31.1% IOPD). HCPs also believe creation of a population of presymptomatic individuals with LOPD creates a psychological burden on the family (87.3% agree/strongly agree), unnecessary medicalization of the child (63.5% agree/strongly agree), and parental hypervigilance (68.3% agree/strongly agree). Opinions were markedly divided on the use of reproductive benefit as a justification for NBS. Participants believe additional education for pediatricians and other specialists would be beneficial in providing care for patients with both IOPD and LOPD, in addition to the creation of evidence-based official guidelines for care and supportive resources for families with LOPD.

Background Lower socioeconomic status is strongly associated with decreased perception of cancer risk. Fewer low socioeconomic status women than expected currently access cancer genetic services from which they may benefit. Patients and Methods We screened women presenting for a screening mammogram at a safety net academic hospital using the Breast Cancer Genetics Referral Screening Tool Version 3.0 (B-RSTTM), an online tool designed to identify individuals potentially at risk for hereditary breast and ovarian cancer. Participants screening either positive (high risk) or negative (moderate risk) were offered genetic counseling appointments. We used a brief survey to evaluate change in risk perception before and after using B-RSTTM, and after a genetic counseling appointment, if applicable. Barriers to accepting appointments were assessed when participants declined. Results Of the 126 participants, 91 (72.2%) screened negative-average risk, 13 (10.3%) screened negative-moderate risk, and 22 (17.5%) screened positive. Of those who screened positive or negative-moderate, 24 (68.6%) expressed interested in a genetic counseling appointment, of which 19 (79.2%) scheduled. Four of the 19 scheduled (21.1%) completed the appointment. We found a significant difference in the number who rated their breast cancer risk correctly on the post-test between the groups who self-rated as low, moderate, or high risk. Those who perceived themselves as high risk were the most likely to rate their risk correctly on the post-test (P Conclusion We showed that using B-RSTTM in a safety net academic hospital was effective at identifying women at increased risk for hereditary breast and ovarian cancer.

ObjectivePrevious research suggests attention and white matter (WM) abnormalities in individuals with mucopolysaccharidosis type I (MPS I); this cross-sectional comparison is one of the first to examine the relationship of WM structural abnormalities as measured by corpus callosum (CC) volumes with attention scores to evaluate this relationship in a larger sample of patients with MPS I.MethodsVolumetric MRI data and performance on a computerized measure of sustained attention were compared for 18 participants with the severe form of MPS I (MPS IH), 18 participants with the attenuated form of MPS I (MPS IATT), and 60 typically developing age-matched controls.ResultsThe MPS I groups showed below-average mean attention scores (p < 0.001) and smaller CC volumes (p < 0.001) than controls. No significant associations were found between attention performance and CC volume for controls. Attention was associated with posterior CC volumes in the participants with MPS IH (p = 0.053) and total (p = 0.007) and anterior (p < 0.001) CC volumes in participants with MPS IATT.ConclusionsWe found that attention and CC volumes were reduced in participants with MPS I compared to typically developing controls. Smaller CC volumes in participants with MPS I were associated with decreased attention; such an association was not seen in controls. While hematopoietic cell transplantation used to treat MPS IH may compound these effects, attention difficulties were also seen in the MPS IATT group, suggesting that disease effects contribute substantially to the clinical attentional difficulties seen in this population.

Men who carry an FMR1 premutation are at-risk to develop a late-onset neurodegenerative disorder called fragile X-Associated Ataxia/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the first to describe diagnostic experiences and identify specific health information needs of male premutation carriers. In-depth qualitative interviews were conducted by phone with ten men who carry an FMR1 premutation. Interviews were analyzed using direct content analysis. Saturation was assessed through use of the Comparative Method for Themes Saturation in qualitative interviews (CoMeTS). Five themes were identified: diagnosis experience, sources of health information, desired health information, barriers to obtaining health information, and facilitators to desired health information. Participants desired information about inheritance, symptoms, expectations for disease, and actions available to slow progression. Facilitators to obtaining health information included healthcare provider knowledge, positive experiences with providers, beneficial family dynamics, participating in research, and access to experts. Barriers to obtaining health information included lack of personal knowledge, lack of healthcare provider knowledge, negative experiences with providers, and uncertainty. Addressing the educational needs of men with/at-risk for FXTAS could improve the quality of life of men who carry a fragile X premutation.

Highlights • It is unknown whether knowledge of CF-genetics influences family building views. • Structured genetic counselling improved knowledge scores among individuals with CF. • Genetic counselling and education did not alter perceptions of family building. • Multiple discussions about fertility options are needed to reinforce key concepts., Many patients with cystic fibrosis (CF) are living well into their adult years and contemplating parenthood. Previous studies have shown that there is an opportunity to improve understanding of inheritance and genetics among individuals with CF. This study explored whether a genetic counselling intervention would be associated with a change in knowledge and/or beliefs about genetics and family-building options. Adults (age ≥ 18 years) presenting to a CF clinic were approached for inclusion. Participants completed a pre-intervention survey to measure their knowledge of CF genetics, as well as perceptions and understanding of assisted reproductive technology treatments and other family-building options. Subjects then partook in a genetic counselling session. Subjects repeated the survey immediately after the session and 1–3 months later. Data analysis used one-way analysis of variance (ANOVA), repeated measures ANOVA and multiple linear regression. Thirty-five subjects [19 (54%) men and 16 (45%) women] with a mean (±standard deviation) age of 28 ± 5.64 years were enrolled in the study. Before the intervention, 61.69% ± 4.50 of knowledge-based questions were answered correctly. Immediately after the intervention, the mean score increased to 77.71% ± 3.23, but this decreased to 69.48% ± 4.02 for the third test (P

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience. The present study examines the effects of receiving a positive NBS result for PD on families. In-depth qualitative interviews were conducted with mothers of nine children (three IOPD and six LOPD) diagnosed via NBS, exploring their experiences, understanding of PD, how they are coping, and what impact diagnosis is having on family life. Interviews were coded using MaxQDA v.12 and analyzed for thematic trends. While overall opinion of NBS was favorable, it is clear many of the concerns anticipated by HCPs, patients, and families regarding NBS for late-onset LSDs are being realized to varying degrees; LOPD families are becoming patients-in-waiting. Increased fear/anxiety and living with uncertainty (regarding diagnosis, their children's future, and when to start treatment) were predominant themes, with all families voicing considerable emotional reactions and varied social and healthcare support concerns. Coping strategies and psychosocial challenges are interpreted using Rolland & Williams' Family Systems Genetic Illness model. Recommendations for improvement in delivery of service, as well as families' advice for future parents and HCPs, are discussed.

Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11.2 region, including only the TOP3B gene, detected in the patient and her father. TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. In this study, we discuss the implication of the 22q11.2 region in neurodevelopmental disorders and the association of TOP3B with epilepsy.

Background The importance of school teachers’ knowledge of and attitudes toward epilepsy and its contribution in improving the links between the Education and Health fields, is well recognized and appreciated. In order to clarify the amount of misconceptions about epilepsy among Tunisian teachers, we conducted a web-based survey. The main objectives of our study were, first, to determine the knowledge about and attitudes toward epilepsy, and second, to specify factors associated with a better understanding of this disease. Methods Data were collected using a web-based survey “Google Forms”. Results The study showed a positive correlation between the level of teachers' knowledge of epilepsy and their attitudes toward a person with epilepsy. Despite the knowledge gaps revealed in Tunisian teachers, the overall attitude was at large positive. Familiarity with epilepsy, whether through family or work environment, made a tremendous contribution in redressing misconceptions about epilepsy in our study. Conclusion More educational interventions and programs are needed to increase teachers' familiarity with epilepsy and, consequently, increase their awareness and knowledge.

Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR-QOL) adapted to this patient population from an existing validated QOL questionnaire (PKU-QOL). Responses were analyzed via domain scores, based on predetermined scoring guidelines. Results suggest HT1 has a moderate overall impact on caregiver QOL, with emotional aspects of the disease having the greatest impact. HT1 diet and specialized formula also had an impact on caregiver QOL, with the vast majority feeling guilt if their child's diet and specialized formula plan were not followed. Management of nitisinone did not impact caregiver QOL. Results were compared to the phenylketonuria (PKU) population. Domain scores for the emotional, practical, social, and overall impact on QOL were higher for HT1 than for mild PKU, indicating a greater impact on QOL. Domain scores for practical and social aspects were similarly higher for HT1 than for classic PKU, though emotional and overall impacts were comparable. This is the first questionnaire to assess QOL in caregivers of children with HT1. Results can be used to better understand psychosocial implications of HT1 and assist healthcare professionals in addressing treatment issues.

Introduction Il existe un grand polymorphisme des cephalees au cours des vascularites qui representent parfois l’unique preuve de l’atteinte neurologique voire un mode de revelation de la maladie systemique. Objectifs Decrire le phenotype, l’etiologie et l’evolution des cephalees associees aux vascularites du systeme nerveux central (SNC) dans une serie tunisienne et proposer une etiologie pour les cephalees inclassables. Patients et methodes Etude retrospective descriptive incluant les patients cephalalgiques regulierement suivis (janvier 2019–octobre 2020) pour vascularite du SNC. Chronologie, etiologie selon l’IHS et evolution des cephalees ont ete precisees. Resultats Vingt-six patients d’âge moyen = 48,26 ans, sex-ratio (F/H) = 2,71. Cephalees revelant la maladie : 50 %. Sept neuro-Goujerot, 6 neurolupus, 4 neuro-Behcet, 3 neurosarcoidose, 2 maladies de Horton, 4 vascularites indeterminees. Etiologie : primaire (42,3 %) surtout cephalees de tension et secondaire (26,9 %) avec amelioration par le traitement de fond dans 85,7 %. Les cephalees etaient inclassables chez 5 patients, apparues apres mise sous traitement. Une comorbidite psychiatrique etait associee dans 53,8 %. Chronicisation des cephalees 92,3 %. Discussion Les cephalees revelent souvent les vascularites chez l’adulte. Savoir identifier les signes evocateurs d’une vascularite devant toute cephalee secondaire c’est eviter les complications neurologiques potentiellement graves sur le plan fonctionnel voire vital. Les cephalees primaires sont une comorbidite frequente que la pathologie perennise ainsi que la comorbidite anxio-depressive. L’iatrogenie est a prendre en consideration pour les cephalees inclassables. Conclusion Si certaines cephalees dans les vascularites sont non caracteristiques voire sans etiologie, elles restent a explorer car elles peuvent constituer a elles seules un mode de revelation de l’atteinte neurologique.

Objective The aim of our study was to analyze electrophysiological findings in patient with Attention Deficit Hyperactivity Disorder (ADHD) by electroencephalography (EEG) recording, estimate the prevalence of epilepsy in ADHD population and assess its clinical characteristics. Methods We conducted a retrospective and analytic study that concerned children with ADHD, followed for at least two-years in the Tunisian National Center for School and University Medicine (NCSUM). All patients recruited underwent at the diagnosis of ADHD, neurological examination and EEG recording in the department of Neurology of Charles Nicolle Hospital. Medical data including family history, ictal semiology and ADHD features were assessed. Results Thirty patients were enrolled in our study. Mean age was 12.27 years with a sex ratio of 3.28. Mean age at diagnosis of ADHD was 6.6 years. Attention Deficit Hyperactivity Disordercombined subtype was seen in 18/30 patients, Hyperactive/ Impulsive subtype in 7/30 patients and Inattentive subtype in 5/30 patients. Epilepsy-disease was reported in 20% (Seizures preceded the diagnosis of ADHD in 3/6 cases and appeared after an average of 3.67 years in 3/6 cases). Mean age of seizure onset was 7 years. Seizure-types were generalized (motor 4/6 cases, absence-type (1/6 case)) and focal (1/6 case). Electroencephalography revealed Epileptiform discharges in 30% with frontal and left dominance. Interictal discharges were significantly associated with younger age of onset (p: 0.02), inattentive subtype (p: 0.04) and intellectual disability (p: 0.04). These discharges was not associated with epilepsy. Conclusion Our results have shown that epileptiform discharges could be used as risk factor for seizures and cognitive impairment which may influence outcome in ADHD population.

Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families. In this study, 47 individuals with Fabry disease (FD), 22 with Gaucher disease (GD), and 22 with late-onset Pompe disease (LOPD) were surveyed regarding how their life might have been impacted by NBS. Of the 91 participants, none had symptoms at birth and 42 (46.7%) were symptom-free until adulthood. Over half (52.8%) were diagnosed ≥5years from symptom onset; of these, significantly more had FD (60%) or LOPD (63.6%) than GD (23.8%). However, length of diagnostic odyssey was not significantly correlated with opinion on NBS. Most participants either strongly agreed (45%) or agreed (33.3%) with NBS for their condition, with no significant differences between diseases. Opinions on NBS were correlated with participants' opinions on whether NBS would have resulted in better current health, but uncorrelated with disease severity or current life satisfaction. Significantly more participants with FD (42.6%) and LOPD (63.6%) than GD (13.6%) felt they would have greater life satisfaction had they been diagnosed as a newborn (p=0.007). Almost half (41%) of participants would have made different life decisions, including lifestyle, financial, and reproductive decisions. Regarding potential harm, participants were most concerned about insurability and least concerned about removal of children's autonomy. In conclusion, NBS is highly approved of among individuals with LSDs themselves, as it would significantly eliminate diagnostic odysseys and potentially alter life planning.

Introduction La neuropathie optique inflammatoire (NOI) est une baisse visuelle douloureuse. Elle se manifeste surtout chez les femmes jeunes d’origine caucasienne et rarement d’origine africaine. Les NOI sont essentiellement demyelinisantes et de presentation clinique typique. Objectifs Etudier les particularites cliniques, paracliniques, etiologiques et evolutives d’une NOI chez des patients tunisiens. Patients et methodes C’est une etude retrospective incluant des patients suivis au service de neurologie du CHU Charles Nicolle entre 2005 et 2019 et ayant une NOI. Nous avons precise les donnees epidemiologiques, cliniques chez tous les patients. Nous avons recueilli egalement les resultats des potentiels evoques visuels (PEV), de l’IRM cerebro-medullaire, de la ponction lombaire (PL) et du bilan immunologique et infectieux. Resultats Nous avons collige 43 patients (35F/8H ; âge moyen = 32,9 ans). La NOI etait douloureuse, unilaterale d’emblee, et avec dyschromatopsie dans respectivement 41,9 %, 55,8 % et 16,3 % des cas. Elle etait demyelinisante chez 86 % des patients. Les etiologies etaient dominees par la SEP (88,4 %), les connectivites (4,7 %) et la maladie de Devic (4,7 %). La NOI etait inaugurale d’une maladie inflammatoire dans 32,6 %. L’amelioration sous corticotherapie etait rapportee chez 90,7 % des patients. Discussion Plusieurs atypies etaient identifiees telle dans une serie tunisienne 2018, a savoir l’absence de douleur et la faible frequence de la dyschromatopsie. Son association a une SEP et la reponse aux corticoides etaient retrouvees dans les etudes tunisiennes, occidentales et asiatiques. Leur pronostic visuel est generalement bon et independant de l’instauration d’un traitement. Conclusion La presentation clinique de la NOI chez nos patients etait souvent atypique. Toutefois, le profil etiologique et evolutif rejoint celui des autres etudes.

Introduction Le syndrome de Goujerot-Sjogren (SGJ) est une epithelite autoimmune systemique frequente. Les complications neurologiques surviennent et dans 8 a 70 % des cas. L’atteinte du systeme nerveux peripherique est retrouvee dans 20 % des cas. Objectifs Decrire les caracteristiques neurophysiologiques des atteintes du systeme nerveux peripherique (SNP) secondaire au SGJ. Patients et methodes Nous avons mene une etude prospective, nous avons recrute des patients ayant un SGJ repondants aux criteres diagnostiques de l’ACR/EULAR 2016. Tous nos patients ont eu un interrogatoire, un examen neurologique et un examen electroneuromyogramme (ENMG) (conduction motrice et sensitive des nerfs au niveau des quatre membres, detection) a la recherche d’une atteinte symptomatique (douleurs neuropathiques ou paresthesies systematisees et/ou des anomalies a l’examen neurologique) ou asymptomatique du SNP. Resultats Il s’agit de 28 patients : 19 femmes et 9 hommes. L’âge moyen etait de 58,75 ans. Le SGJ etait primitif dans 64,28 % des cas. L’ENMG etait normal chez 42,85 % des patients. Il a montre une polyneuropathie sensitive axonale dans 21,42 % des cas, une polyneuropathie sensitivo-motrice axonale dans 17,85 % des cas et une mononeuropathie multiple dans 10,71 % des cas. Le diagnostic de neuropathie des petites fibres a ete retenu chez deux patients. Discussion L’atteinte du SNP peut preceder ou survenir en meme temps que le syndrome sec. Elle concerne aussi bien les fibres sensitives que motrices. Elle peut etre focale ou multifocale, interessant les grosses et les petites fibres tel le cas de nos patients. Le mecanisme est le plus souvent axonal expliquee par l’ischemie nerveuse secondaire a l’occlusion des vasa nervorum. Conclusion Cette complication a des repercussions aussi bien therapeutiques que pronostiques. Sa recherche systematique est necessaire car elle est souvent infra clinique et sous diagnostiquee.

Introduction Le trouble deficit de l’attention avec hyperactivite (TDAH) est un trouble neurodeveloppemental de l’enfant d’âge scolaire. Son association a l’epilepsie, rapportee dans 8 a 77 % des cas, est complexe. Objectifs Le but de notre travail etait d’analyser l’electrogenese des patients TDAH par un electroencephalogramme (EEG) standard, d’estimer la prevalence de l’epilepsie chez les malades TDAH et de decrire ses caracteristiques. Patients et methodes Nous avons mene une etude bicentrique, retrospective et descriptive, de septembre 2018 a septembre 2019. Nous avons recrute les patients suivis pour TDAH au Centre National de Medecine Scolaire et Universitaire, et explores au sein de l’unite de neurophysiologie du service de neurologie de l’hopital Charles Nicolle. Tous les patients avaient eu un examen neurologique, neuropsychologique et un EEG au moment du diagnostic. La valeur p ≤ 0,05 etait consideree comme statistiquement significative. Resultats Nous avons collige 30 patients. Une epilepsie etait retrouvee chez 20 % des patients. Les crises etaient de type generalise tonico-clonique (n = 4), absence typique (n = 6), et focales (n = 6). L’EEG a montre des anomalies inter-icales chez 30 % des patients avec predominance frontale gauche. Ces anomalies etaient statistiquement associees a un âge jeune, au type inattention et a la presence d’une deficience intellectuelle. Nous n’avons pas retrouve de liens significatifs entre ces anomalies et la survenue d’une epilepsie. Discussion Nos resultats suggerent que les patients TDAH avec decharges epileptiformes obeiraient a un spectre de maladie different touchant une population plus jeune avec predominance du type inattention. Les decharges frontales predominantes impliqueraient un dysfonctionnement des capacites executives et d’adaptation. L’hypothese du dysfonctionnement cognitif induit par ces anomalies EEG a ete appuyee par les liens retrouves avec la deficience intellectuelle. Conclusion Les manifestations ictales et inter-ictales semblent participer a la genese du TDAH. L’identification precoce de ces anomalies par un EEG systematique aura un double interet : pronostique mais aussi therapeutique.

Introduction: Organic solvents (OS) are substances with well-known nervous system tropism. Long-term exposure can cause several neurological and neuropsychic manifestations (mainly toxic encephalopathy). A potential causal relation between epileptic seizures and exposure to OS remains controversial. Methods: We report seven cases of patients with no neurological history who had been professionally exposed to OS and who had at least one epileptic seizure after exposure. Selection of these cases was based on medical records of patients who were referred to the occupational health department of Charles Nicolle Hospital of Tunis during the period from January 1, 2010 to December 31, 2014. Results: Cases studies concerned five men and two women aged between 29 and 46. Professional seniority ranged from 2 to 31 years. In all cases, epileptic seizures occurred after exposure to a mixture of solvents. It was concluded, according to workplace inspections, that there was an important daily and direct OS exposure. Working conditions were considered as defective. Six cases had generalized seizures, one patient presented with status epilepticus. Illness onset occurred between one and nine years after the beginning of exposure to OS. Conclusion: These cases suggest a possible relationship between OS exposure and onset of epilepsy.

Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course. Methods A retrospective longitudinal study was conducted over 30 years (1986–2016) in the referral metabolic center in Tunisia. Results Fifty GSDIII patients (26 boys), followed for an average 6.75 years, were enrolled. At the last evaluation, the median age was 9.87 years and 24% of patients reached adulthood. Short stature persisted in eight patients and obesity in 19 patients. Lower frequency of hypertriglyceridemia (HTG) was associated with older patients (p Conclusions A low caloric, protein and uncooked cornstarch intake is associated with a more severe outcome in GSDIII Tunisian patients. Neuromuscular and CIs were particularly precocious and severe, even in childhood. Genetic and epigenetic factors deserve to be explored.

Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11.2 region, including only the TOP3B gene, detected in the patient and her father. TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. In this study, we discuss the implication of the 22q11.2 region in neurodevelopmental disorders and the association of TOP3B with epilepsy.

Angiotensin-converting enzyme (ACE) has shown altered activity in patients with neurological diseases. An insertion/deletion (I/D) polymorphism of the ACE gene encoding angiotensin-converting enzyme has been reported to be associated with the risk for Alzheimer's disease (AD), and is generally considered to be a disorder primarily affecting memory. We conducted a case-control study in a sample composed of 85 sporadic AD patients and 90 age- and sex-matched controls to investigate the possible effect of the polymorphism and cognitive profile. Our data revealed an association between the ACE polymorphism and AD risk. There was a significant difference in the ACE allele or genotype frequencies between cases and controls. The D/D genotype showed an increased risk for AD and in the amnestic group and the effect was independent on ApoE genotypes.

Background. The Sjögren Syndrome (SS) can include various manifestations of central nervous system impairment. Extrapyramidal signs are known to be very rare and unusually discovered on early onset in this pathology.Observation. A 46-year-old woman with a history of progressive Parkinsonism for 6 years and a normal brain magnetic resonance imaging was partially improved with levodopa therapy. The later discovery of a sicca syndrome led to performing of further investigations, which revealed the presence of anti-SSA antibodies and a sialoadenitis of grade 4 according to Chisholm’s classification on labial salivary gland biopsy. The diagnosis of primary SS was established and the adjunction of corticotherapy has remarkably improved Parkinson’s signs without use of other immunosuppressive agents.Conclusion. Based on these findings, we discuss the hypothesis of either a causal link between SS and Parkinsonism or a fortuitous association of two distinct pathologies with or without a shared immunopathogenesis.

Several clinical phenotypes were associated with presenilin 1 (PSEN1) mutation in early-onset familial Alzheimer's disease (EOFAD). We report the clinical phenotype of two members of a familial dementia kindred who presented with EOFAD and early psychiatric syndrome as behavioral abnormalities. Sequence analysis of the index patient and his brother's PSEN1 transcript revealed a novel T > C transition in exon 4 which was determined as a missense substitution at position 248 of the coding sequence (cDNA. 248T > C).

Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic. Subjects completed 6 months of in-person or telecounseling with the same health psychologist, followed by 6 months without counseling. Self-report measures of depression, AF, QOL, and subjective pain were completed every 3 months. All subjects experienced improvements in depression, which were sustained during the follow-up period. Improvements in depression were correlated with improvements in mental health QOL and subjective pain severity, while improvements in mental health QOL were correlated with improvements in AF. While statistical comparison between counseling modes was not possible with the given sample size, relevant observations were noted. Recommendations for future research include replication of results with a larger sample size and a longer counseling period. The use of video counseling may be beneficial. In conclusion, the present pilot study supports the efficacy of psychological treatment for depression in people with FD, highlighting the importance of having health psychologists housed in LSD treatment centers, rather than specialty psychology/psychiatry settings, to increase participation and decrease potential obstacles to access due to perceived stigma.

Introduction Le deficit post-critique, appele paralysie de Todd, est un desordre transitoire habituellement de duree breve inferieure a 36 heures, parfois il peut se prolonger au-dela de ces delais. Observation Il s’agit d’une patiente âgee de 46 ans sans aucun antecedent pathologique personnel ni familial admise dans un tableau pseudo-encephalitique subaigu associant ; un etat de mal epileptique suivi d’une hemiplegie droite, Cependant, l’analyse du liquide cephalo-rachidien ainsi que les differentes serologies etaient normales y compris la serologie herpetique. L’IRM cerebrale faite a 2 reprises a montre une anomalie de signal en hypo-signal T1, hypersignal T2 et Flair, sans restriction de la diffusion ni stigmates d’hemorragie en frontal droit, en faveur d’une malformation corticale type dysplasie. Cette IRM n’a pas montre de lesion evocatrice de stroke expliquant le deficit. Les crises epileptiques ont cede sous traitement antiepileptique, le deficit moteur qu’on a rattache a une paralysie de todd surtout devant l’absence de lesion recente expliquant ce deficit, a persiste 1 mois avant de regresser totalement et spontanement. Discussion Chez notre patiente, une encephalite qui a ete eliminee devant la normalite de l’analyse du liquide cerebrospinal. Le deficit moteur regressif a ete explique par une paralysie de Todd prolongee qui reste un diagnostic d’elimination. C’est une entite rare mais decrite dans les epilepsies symptomatiques d’une lesion structurelle (vasculaire, tumorale, malformative…) du systeme nerveux central tel le cas de notre patiente. Conclusion Cette observation illustre la possibilite de paralysie de Todd prolongee surtout quand l’imagerie cerebrale a elimine une lesion ischemique ou tumorale recente expliquant le deficit.

Femme de 28 ans sans antecedents admise en janvier 2015 pour faiblesse et engourdissement des membres inferieurs d’aggravation progressive sur 4 semaines. L’examen trouve une paraparesie, hypoesthesie distale, des ROT abolis. Le diagnostic d’un Guillain Barre (GB)est suspecte, mais devant l’atteinte du VI, VII droit, et VIII bilateral, une IRM cerebrale est faite. Plusieurs empyemes extra-axiaux avec epaississement et prise de contraste leptomeningee associees a des hypersignaux mesencephalique gauche sont observes. VS = 70 mm. L’analyse du LCR revele une hyperproteinorrachie : 3,13 g/l, hypoglucorrachie : index IgG/l et hypercellularite (99 cellules/μL, 100 % lymphocytes). La culture du LCR est negative. La recherche de BK est negative. Le test d’agglutination serique de Wright est positif (sang : 1/80) et (LCR 1/40). Il existe une synthese intrathecale d’immunoglobuline, Index IgG : 1,26 et profil immunoelectrophoretique type 2. Devant cette leucoencephalopathie GB-like, le diagnostic d’une Neurobrucellose est pose malgre une titration faible. Sachant que le seuil de positivite est fixe a 1/160. Un traitement associant (Rifampicine-Doxycycline et Cotrimoxazole) est debute immediatement. L’amelioration nette aussi bien clinique que radiologique a permis de conforter le diagnostic (Figures). Paradoxalement aux resultats retrouves dans le model animal temoignant d’une alteration de la fonction phagocytaire des macrophages, certaines etudes montrent une forte reponse inflammatoire type TH1. L’augmentation de Index IgG temoigne de l’activation des LB. Brucella encore endemique dans nos pays et connue avoir un tropisme pour le systeme reticulo-lymphocytaire, attaque le systeme nerveux central via plusieurs mecanismes qui seront discutes. L’implication immune via les lymphocytes T et B est actuellement certaine. Des recherches dans le domaine de la neuroimmunologie sont tres utiles dans les cas a presentations atypiques ou en cas de negativite des tests hematologiques et du LCR dont la sensibilite reste discutee.

Introduction Les nevrites optiques (NO) representent le premier evenement demyelinisant au cours de la sclerose en plaques (SEP) dans plus de 20 % des cas. Les donnees initiales des potentiels evoques visuels varient d’un malade a l’autre. Objectifs Etudier les anomalies de la NO dans la SEP recurrente remittente et analyser ces anomalies en fonction du handicap, du nombre de poussees et de l’imagerie. Patients et methodes Etude longitudinale descriptive et retrospective sur des patients atteints de SEP et suivis jusqu’a 2018. Les malades sont classes SEP remittente recurrente selon les criteres de McDonald 2010 et ayant une duree de suivi minimale de 5 ans. Tous les malades inclus ont eu des Potentiels evoques visuels (PEV) a la phase de debut de la maladie. Les donnees cliniques, radiologiques et evolutives ont ete colligees. Resultats Au total, 84 patients inclus. PEV etaient alteres : 78,6 % des cas : atteinte demyelinisante : 53 %, axonale : 12 % et axono-demyelinante : 10,8 % des cas. Les signes visuels au debut etaient correlees a un intervalle plus court de survenue de la 2eme poussee (p = 0,04). L’EDSS a 5 ans et la frequence de passage a la forme SP sont plus augmentees dans l’atteinte axonale. 42,6 % des patients avec atteinte axonale ont necessite le passage a un traitement de 2eme ligne contre 15,8 % pour l’atteinte demyelinisante (p Discussion La majorite des etudes se sont interesses a l’utilite des PEV dans le diagnostic d’une NO. Les etudes recherchant si les PEV pourraient etre un facteur pronostic sont tres peu frequentes. Notre etude a bien montre que la neurophysiologie clinique occupe une place importante aussi bien diagnostique que pronostique. Conclusion Les formes d’emblee axonales ou axono-demyelinisantes pouvant exister a des stades precoces de la maladie sont associees a une progression rapide du handicap.

Introduction La Maladie de Parkinson Idiopathique (MPI) est une atteinte neurodegenerative impliquant une prise en charge multidisciplinaire. La contribution de l’ergotherapie dans l’amelioration des limitations liees a la maladie est peu connue. Objectifs Proposer une demarche ergotherapique specifique a chaque stade de la MPI et evaluer son impact sur la qualite de vie des patients. Patients et methodes Nous avons pris en charge a un rythme bihebdomadaire pendant 2 mois trois patients a des stades differents de la MPI. L’etude etait basee sur les modeles conceptuels de support audiovisuel, indicage, technique de communication centree sur le patient et de reeducation-readaptation. Une demarche differente a ete etablie pour chaque patient suivant des objectifs specifiques prealablement fixes. La qualite de vie a ete evaluee par le PDQL en debut et en fin de prise en charge. Resultats Nous avons remarque une amelioration de la dexterite manuelle chez le patient a la phase initiale de la MPI. Il y avait une diminution de la rigidite axiale et de l’hypomimie chez le patient a la phase d’etat. Le patient a la phase avancee a ameliore son schema de la marche avec reduction de l’enrayage cinetique et n’a pas developpe de complications de decubitus. Nous avons note une amelioration de la qualite de vie chez tous les patients. Discussion Les personnes atteintes de la MPI se trouvent souvent limitees au traitement medicamenteux et prennent rarement conscience de la necessite d’une intervention ergotherapique. Notre etude a montre l’efficacite de l’ergotherapie sur les volets aussi bien moteurs que psychosociaux avec un impact positif sur la qualite de vie aux differents stades de la MPI. Conclusion Etablir une demarche d’intervention adaptee, basee sur des modeles conceptuels d’ergotherapie peut servir de reference a tout intervenant et permet d’ameliorer la qualite de vie des patients MPI.