Neurological research and practice最新文献

{"title":"Outcome of endovascular stroke therapy in a large mandatory stroke-registry.","authors":"Sonja Hyrenbach, Susanne Rode, Martin Schabet, Michael Daffertshofer, Karin Schoser, Stephan Neumaier, Peter A Ringleb","doi":"10.1186/s42466-023-00287-z","DOIUrl":"10.1186/s42466-023-00287-z","url":null,"abstract":"<p><strong>Background: </strong>Endovascular stroke treatment (EST) has become the standard treatment for patients with stroke due to large vessel occlusion, especially in earlier time windows. Only few data from population-based registries on effectiveness of EST have been published.</p><p><strong>Methods: </strong>Baden-Wuerttemberg is the third largest state in Germany in terms of area and population and has a structured stroke concept since 1998 which includes mandatory collection of quality assurance data. In 2018 and 2019, 3820 of 39,168 ischemic stroke patients (9.8%) were treated by EST (age median 78 y, NIHSS median 14). We analyzed the clinical outcome of these patients determined with the modified Rankin Scale (mRS) at discharge from the hospital or with the initiation of palliative therapy using logistic regression analysis with adjustment for the mRS at admission, additive IVT, age, and NIHSS.</p><p><strong>Results: </strong>The probability of an excellent clinical outcome (mRS 0 or 1 at discharge) and for a good clinical outcome (mRS 0-2) were significantly higher in EST-patients (odds-ratio (OR) 1.27; 95% confidence interval (95% CI) 1.13-1.43, and OR of 1.15 (95% CI 1.04-1.28). Also, the regression model showed an advantage for EST-patients with less frequent 'decision for palliative care' (OR 0.87; 95% CI 0.78-0.98). Sensitivity analysis adjusting for intracranial vessel occlusion as further factor showed similar results.</p><p><strong>Conclusion: </strong>Our data suggest that EST can be of benefit also for an area-wide unselected stroke population, in a large German federal state with sometimes long distance to the next thrombectomy center.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"67"},"PeriodicalIF":0.0,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10734186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138833794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of referring patients with drug-resistant focal epilepsy to an epilepsy center for presurgical diagnosis.","authors":"Leonhard Mann, Felix Rosenow, Adam Strzelczyk, Elke Hattingen, Laurent M Willems, Patrick N Harter, Katharina Weber, Catrin Mann","doi":"10.1186/s42466-023-00288-y","DOIUrl":"https://doi.org/10.1186/s42466-023-00288-y","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy surgery is an established treatment for drug-resistant focal epilepsy (DRFE) that results in seizure freedom in about 60% of patients. Correctly identifying an epileptogenic lesion in magnetic resonance imaging (MRI) is challenging but highly relevant since it improves the likelihood of being referred for presurgical diagnosis. The epileptogenic lesion's etiology directly relates to the surgical intervention's indication and outcome. Therefore, it is vital to correctly identify epileptogenic lesions and their etiology presurgically.</p><p><strong>Methods: </strong>We compared the final histopathological diagnoses of all patients with DRFE undergoing epilepsy surgery at our center between 2015 and 2021 with their MRI diagnoses before and after presurgical diagnosis at our epilepsy center, including MRI evaluations by expert epilepsy neuroradiologists. Additionally, we analyzed the outcome of different subgroups.</p><p><strong>Results: </strong>This study included 132 patients. The discordance between histopathology and MRI diagnoses significantly decreased from 61.3% for non-expert MRI evaluations (NEMRIs) to 22.1% for epilepsy center MRI evaluations (ECMRIs; p < 0.0001). The MRI-sensitivity improved significantly from 68.6% for NEMRIs to 97.7% for ECMRIs (p < 0.0001). Identifying focal cortical dysplasia (FCD) and amygdala dysplasia was the most challenging for both subgroups. 65.5% of patients with negative NEMRI were seizure-free 12 months postoperatively, no patient with negative ECMRI achieved seizure-freedom. The mean duration of epilepsy until surgical intervention was 13.6 years in patients with an initial negative NEMRI and 9.5 years in patients with a recognized lesion in NEMRI.</p><p><strong>Conclusions: </strong>This study provides evidence that for patients with DRFE-especially those with initial negative findings in a non-expert MRI-an early consultation at an epilepsy center, including an ECMRI, is important for identifying candidates for epilepsy surgery. NEMRI-negative findings preoperatively do not preclude seizure freedom postoperatively. Therefore, patients with DRFE that remain MRI-negative after initial NEMRI should be referred to an epilepsy center for presurgical evaluation. Nonreferral based on NEMRI negativity may harm such patients and delay surgical intervention. However, ECMRI-negative patients have a reduced chance of becoming seizure-free after epilepsy surgery. Further improvements in MRI technique and evaluation are needed and should be directed towards improving sensitivity for FCDs and amygdala dysplasias.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"65"},"PeriodicalIF":0.0,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10720126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rendezvous intervention using combined surgical carotid endarterectomy followed by endovascular thrombectomy in patients with acute tandem occlusions: a proof-of-concept experience at a tertiary care center.","authors":"Norma J Diel, Stefan T Gerner, Omar Alhaj Omar, Johannes Kalder, Enikö Manz, Paula R Keschenau, Tobias Struffert, Thomas Brueckner, Hagen B Huttner, Thorsten R Doeppner","doi":"10.1186/s42466-023-00290-4","DOIUrl":"10.1186/s42466-023-00290-4","url":null,"abstract":"<p><strong>Background: </strong>Endovascular thrombectomy (EVT) is highly effective in acute stroke patients with intracranial large vessel occlusion (LVO), however, presence of concomitant cervical occlusion of the internal carotid artery (ICA) may limit the endovascular access. This study describes feasibility and efficacy of a surgical carotid access (cutdown) to perform interdisciplinary recanalization therapy including carotid endarterectomy (CEA) followed by EVT for recanalization of intracranial LVO in stroke patients with tandem occlusions.</p><p><strong>Methods: </strong>We identified stroke patients with tandem occlusions who underwent a combined surgical-endovascular approach over a 5-year period. Surgical cutdown was provided by a cardiovascular surgery team at the angio-suite followed by EVT performed by the neuroradiological team. Demographics, stroke characteristics, treatments including antithrombotic management, procedure times, and clinical follow-up were assessed.</p><p><strong>Results: </strong>Four patients with acute stroke because of tandem occlusions received CEA followed by EVT (two patients after frustrating femoral catheterization, two as first-line approach). Successful recanalization (TICI ≥ 2b) via endovascular thrombectomy was achieved in all patients at a median of 28 min after successful surgical CEA. Intraprocedural complication was observed in one case (25%; i.e. ICA dissection).</p><p><strong>Conclusions: </strong>This small study provides evidence that a combined interdisciplinary approach of CEA followed by EVT in the angio-suite in acute stroke patients with tandem occlusions is a feasible procedure in patients otherwise not accessible to endovascular recanalizing therapy and, therefore, high likelihood of developing large hemispheric infarction. Prospective data are warranted to identify patients who benefit from this combined approach as first-line therapy.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"60"},"PeriodicalIF":0.0,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10701999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of a German-language modified Rankin Scale structured telephone interview at 3 months in a real-life stroke cohort.","authors":"Lennart Steffen Milles, Doreen Pommeranz, Woon Hyung Chae, Jordi Kühne Escolà, Christoph Kleinschnitz, Martin Köhrmann, Benedikt Frank","doi":"10.1186/s42466-023-00289-x","DOIUrl":"https://doi.org/10.1186/s42466-023-00289-x","url":null,"abstract":"<p><strong>Background: </strong>The modified Rankin scale (mRS) at 3 months is established as the primary outcome measure in clinical stroke trials. Traditionally, the mRS is assessed through an unstructured face-to-face interview. This approach can be labor-intensive and lead to suboptimal inter-rater reliability. Recently, the Covid-19 pandemic made face-to-face contact even more challenging. To address these issues, we developed and validated a structured German-language questionnaire for mRS testing by telephone.</p><p><strong>Methods: </strong>In this prospective cohort study, we compared the mRS testing results of the standard face-to-face interview with those obtained in a structured interview by telephone using Cohen's Kappa.</p><p><strong>Results: </strong>At our tertiary care stroke center, we included 108 patients who underwent both assessments. In 80.6% of cases (87/108) face-to-face and telephone interview reached identical scores. Linear weighted Kappa was 0.82 (p < 0.001). Unweighted Kappa for dichotomized mRS between fair (0-2) and poor (3-6) functional outcome was κ = 0.97 (p < 0.001).</p><p><strong>Conclusions: </strong>Our study validates the use of the German-language structured telephone interview as a reliable instrument for the use in clinical trials. We encourage others to utilize the questionnaire. It is available as an Appendix (Additional file 1) to this publication.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"59"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10687899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138465250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential diagnosis of chorea (guidelines of the German Neurological Society).","authors":"Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer","doi":"10.1186/s42466-023-00292-2","DOIUrl":"10.1186/s42466-023-00292-2","url":null,"abstract":"<p><strong>Introduction: </strong>Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries.</p><p><strong>Recommendations: </strong>Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27-35 CAG repeats) which may display expansions into the pathogenic range).</p><p><strong>Conclusions: </strong>The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"63"},"PeriodicalIF":0.0,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Symptomatic treatment options for Huntington's disease (guidelines of the German Neurological Society).","authors":"Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer","doi":"10.1186/s42466-023-00285-1","DOIUrl":"10.1186/s42466-023-00285-1","url":null,"abstract":"<p><strong>Introduction: </strong>Ameliorating symptoms and signs of Huntington's disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g. chorea) may favorably or unfavorably impact other facets of the disease phenotype (such as mood and cognition). Similarly, pharmacotherapy for behavioral issues may modify the motor phenotype. Sometimes synergistic effects can be achieved. In patients undergoing pragmatic polypharmacological therapy, emerging complaints may stem from the employed medications' side effects, a possibility that needs to be considered. It is recommended to clearly and precisely delineate the targeted signs and symptoms (e.g., chorea, myoclonus, bradykinesia, Parkinsonism, or dystonia). Evidence from randomized controlled trials (RCTs) is limited. Therefore, the guidelines prepared for the German Neurological Society (DGN) for German-speaking countries intentionally extend beyond evidence from RCTs and aim to synthesize evidence from RCTs and recommendations of experienced clinicians.</p><p><strong>Recommendations: </strong>First-line treatment for chorea is critically discussed, and a preference in prescription practice for using tiapride instead of tetrabenazine is noted. In severe chorea, combining two antidopaminergic drugs with a postsynaptic (e.g., tiapride) and presynaptic mode of action (e.g., tetrabenazine) is discussed as a potentially helpful strategy. Sedative side effects of both classes of compounds can be used to improve sleep if the highest dosage of the day is given at night. Risperidone, in some cases, may ameliorate irritability but also chorea and sleep disorders. Olanzapine can be helpful in the treatment of weight loss and chorea, and quetiapine as a mood stabilizer with an antidepressant effect.</p><p><strong>Conclusions: </strong>Since most HD patients simultaneously suffer from distinct motor signs and distinct psychiatric/behavioral symptoms, treatment should be individually adapted.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"61"},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term functional outcome and quality of life 2.5 years after thrombolysis in acute ischemic stroke.","authors":"Marie Schäbitz, Leona Möller, Anja Friedrich, Nele Klein, Alkisti Kitsiou, Isabell Greeve, Anja Gerstner, Leonard Wulff, Wolf-Rüdiger Schäbitz, Lars Timmermann, Andreas Rogalewski","doi":"10.1186/s42466-023-00291-3","DOIUrl":"10.1186/s42466-023-00291-3","url":null,"abstract":"<p><strong>Background: </strong>Evaluation of outcome after stroke is largely based on assessment of gross function 3 months after stroke onset using scales such as mRS. Cognitive or social functions, level of symptom burden or emotional health are not usually assessed, nor are data available on long-term functional outcomes years after stroke.</p><p><strong>Methods: </strong>Analysis of 1141 patients with AIS treated with IVT from two major German university hospitals between 2017 and 2020. Patient characteristics and short-term outcome were analysed from patient records. Long-term outcome of 228 patients with prior written informed consent was assessed via telephone survey using mRS and PROMs (EQ-5D-5L, EQ-VAS) 2.5 years after stroke.</p><p><strong>Results: </strong>Predictors of excellent to good long-term outcome were younger age, event to door time ≤ 2 h, NIHSS ≤ 6 on admission and NIHSS ≤ 6 after IVT. Stroke recurrence was a negative predictor. Predictors of excellent quality of life at 2.5 years included age < 73 years, lower NIHSS after IVT, absence of hypertension. Quality of life was rated in all dimensions with a medium score of 1 and a medium EQ-VAS of 70, representing the good general health status of this stroke population.</p><p><strong>Conclusion: </strong>Main predictors of an excellent to good long-term outcome and excellent QoL 2.5 years after stroke are younger age, lower NIHSS, and event to door time ≤ 2 h. Research on long-term outcome after disease and treatment is of utmost importance, as it has the ability to reveal the patient true functional outcome and quality of life and to provide information on the status of independence and self-esteem.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"62"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10633897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Guideline \"Transient Global Amnesia (TGA)\" of the German Society of Neurology (Deutsche Gesellschaft für Neurologie): S1-guideline.","authors":"Dirk Sander, Thorsten Bartsch, Florian Connolly, Christian Enzinger, Urs Fischer, Nils Nellessen, Holger Poppert, Kristina Szabo, Helge Topka","doi":"10.1186/s42466-023-00296-y","DOIUrl":"10.1186/s42466-023-00296-y","url":null,"abstract":"","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"64"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10631054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcome analysis for patients with subarachnoid hemorrhage and vasospasm including endovascular treatment.","authors":"Sina Burth, Jan Meis, Dorothea Kronsteiner, Helena Heckhausen, Klaus Zweckberger, Meinhard Kieser, Wolfgang Wick, Christian Ulfert, Markus Möhlenbruch, Peter Ringleb, Silvia Schönenberger","doi":"10.1186/s42466-023-00283-3","DOIUrl":"10.1186/s42466-023-00283-3","url":null,"abstract":"<p><p>As a complication of subarachnoid hemorrhage (SAH), vasospasm substantially contributes to its morbidity and mortality. We aimed at analyzing predictors of outcome for these patients including the role of endovascular treatment (ET). Our database was screened for patients with SAH treated in our Neuro-ICU from 2009 to 2019. Clinical parameters including functional outcome (modified Rankin Scale, mRS of 0-2 or 3-6 at discharge and after a median follow-up of 18 months) and details about ET were gathered on 465 patients, 241 (52%) of whom experienced vasospasm. Descriptive analyses were performed to identify explanatory variables for the dichotomized mRS score. A logistic regression model was fitted on 241 patients with vasospasm including age, Hunt and Hess Score, extraventricular drainage (EVD), forced hypertension, ET and delayed cerebral ischemia (DCI). The model found a Hunt and Hess Score of 5 (OR = 0.043, p = 0.008), requirement of EVD (OR = 0.161, p < 0.001), forced hypertension (OR = 0.242, p = 0.001), ET (OR = 0.431, p = 0.043) and DCI (OR = 0.229, p < 0.001) to be negative predictors of outcome while age was not. Use of intraarterial nimodipine alone (OR = 0.778, p = 0.705) or including balloon angioplasty (OR = 0.894, p = 0.902) and number of ETs per patient (OR = 0.757, p = 0.416) were not significant in a separate model with otherwise identical variables. While DCI is clearly associated with poor outcome, the influence of ET on outcome remains inconclusive. Limited by their retrospective nature and an indication bias, these data encourage a randomized assessment of ET.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"57"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71430606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal immunoglobulin treatment can reduce severity of fetal acetylcholine receptor antibody-associated disorders (FARAD).","authors":"Matthias Wassenberg, Andreas Hahn, Anna Mück, Heidrun H Krämer","doi":"10.1186/s42466-023-00280-6","DOIUrl":"10.1186/s42466-023-00280-6","url":null,"abstract":"<p><strong>Background: </strong>Fetal acetylcholine receptor antibody-associated disorders (FARAD), caused by in utero exposure to maternal antibodies directed against the fetal acetylcholine receptor (AChR), is a rare condition occurring in newborns of myasthenic mothers. Only two cases of FARAD children born to asymptomatic mothers are published.</p><p><strong>Case: </strong>We report a completely asymptomatic mother of two FARAD children presenting exclusively with positive AChR antibodies. After birth, the first child needed intensive care therapy due to generalized hypotonia, respiratory problems, dysphagia, necessitating tube feeding and gastrostomy. FARAD was suspected because of ptosis, a hypomimic face, and confirmed by increased AChR antibodies in the mother. The mother became pregnant again 2 years later. Since FARAD is likely to reoccur and it is known that intensity of maternal myasthenia gravis treatment determines postnatal outcome, monthly intravenous immunoglobulin (IVIG) therapy was started at 12 weeks gestational age. The second child needed a short mask ventilation for initial stabilization at birth, but her muscle weakness improved rapidly and tube feeding was not necessary. Similar to her sister a tent-shaped mouth and a somewhat myopathic face persisted, but motor milestones were reached in time.</p><p><strong>Conclusions: </strong>These observations highlight that FARAD is an important differential diagnosis of genetically determined congenital neuromuscular disorders even in asymptomatic mothers, and that IVIG therapy during the pregnancy has the potential to improve the outcome of the children.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"5 1","pages":"58"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50164285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}