BMC NeurologyPub Date : 2024-11-09DOI: 10.1186/s12883-024-03945-0
Susanne Gaarden Ingebrigtsen, Kristin Smistad Myrmel, Stian Henriksen, Gry Charlotte Wikran, Marit Herder, Garth D Tylden, Hans H Hirsch, Christine Hanssen Rinaldo
{"title":"Transient biopsy-proven progressive multifocal leukoencephalopathy-immune reconstitution inflammatory syndrome (PML-IRIS) in an elderly woman without known immunodeficiency: a case report.","authors":"Susanne Gaarden Ingebrigtsen, Kristin Smistad Myrmel, Stian Henriksen, Gry Charlotte Wikran, Marit Herder, Garth D Tylden, Hans H Hirsch, Christine Hanssen Rinaldo","doi":"10.1186/s12883-024-03945-0","DOIUrl":"10.1186/s12883-024-03945-0","url":null,"abstract":"<p><strong>Background: </strong>Progressive multifocal leukoencephalopathy (PML) is a severe opportunistic brain disease caused by lytic JC polyomavirus (JCPyV) replication in oligodendrocytes. Although JCPyV infection is common in the general population, PML almost exclusively occurs in patients immunocompromised due to untreated HIV/AIDS, haematological malignancies, primary immunodeficiencies, solid organ transplantation, or immunomodulatory treatment of autoimmune diseases. There is no effective antiviral treatment, and recovery depends on immune reconstitution. Paradoxically, initiation of antiretroviral therapy for HIV/AIDS or interruption of immunomodulating treatment can worsen the clinical manifestations due to immune reconstitution inflammatory syndrome (IRIS). Here, we report an unusual case of spontaneous IRIS in a 76-year-old immunocompetent woman, unmasking PML and leading to unexpected recovery.</p><p><strong>Case presentation: </strong>The patient was admitted to the hospital due to psychosis, speech impairment, and behavioral changes over the last three months. She had previously been healthy, except for a cerebellar stroke secondary to paroxysmal atrial fibrillation. Magnetic resonance imaging (MRI) revealed multiple contrast-enhancing white matter lesions suspicious of cancer metastases. Due to suspicion of edema, dexamethasone was administered, and the patient was released while waiting for a stereotactic brain biopsy. Eight days later, she suffered tonic seizures and was readmitted. Intravenous levetiracetam gave rapid effect, but the patient was paranoid and non-cooperative, and dexamethasone was unintentionally discontinued. Ten days later, the brain biopsy revealed demyelination, abundant perivascular T cells, macrophages, and scattered JCPyV-infected oligodendrocytes, rendering the diagnosis of PML-IRIS. The cerebrospinal fluid contained low amounts of JCPyV-DNA, and plasma contained high levels of anti-JCPyV immunoglobulin G. Despite extensive immunological testing, no evidence of immunodeficiency was found. The patient gradually recovered clinically and radiologically. More than 19 months after diagnosis, the patient has only a slight impairment in language and behavior.</p><p><strong>Conclusions: </strong>An apparently immunocompetent elderly person developed clinically symptomatic PML, which spontaneously resolved with symptoms and signs of IRIS. The atypical MRI lesions with contrast enhancement and the lack of known immunological risk factors for PML delayed the diagnosis, eventually proved by biopsy. PML and PML-IRIS should be considered in the differential diagnosis of patients presenting CNS symptoms and focal lesions with contrast enhancement on MRI.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"436"},"PeriodicalIF":2.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142615004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-09DOI: 10.1186/s12883-024-03635-x
Ali Ali, Avril D McCarthy, Mark Reeves, Jamie Healey, Louise Moody, Adewale Adebajo, Tim Good, Simon Dixon, Kathleen Baster, Wendy Tindale, Krishnan Padmakumari Sivaraman Nair
{"title":"Sheffield Adaptive Patterned Electrical Stimulation (SHAPES) Therapy for Post Stroke Arm spasticity: study protocol for a 3-arm, a partially blinded, randomised controlled trial.","authors":"Ali Ali, Avril D McCarthy, Mark Reeves, Jamie Healey, Louise Moody, Adewale Adebajo, Tim Good, Simon Dixon, Kathleen Baster, Wendy Tindale, Krishnan Padmakumari Sivaraman Nair","doi":"10.1186/s12883-024-03635-x","DOIUrl":"10.1186/s12883-024-03635-x","url":null,"abstract":"<p><strong>Introduction: </strong>Post stroke elbow spasticity (PSES) affects over a third of individuals following stroke and negatively impacts on functional recovery, comfort and quality of life. Drug therapies have limited efficacy and unwanted side effects, botulinum toxin, although effective, is costly, and conventional electrical stimulation therapies are limited long term by habituation. We aim to investigate the efficacy of Sheffield Adaptive Patterned Electrical Stimulation (SHAPES), that delivers temporally and spatially varying pattern of electrical stimulation, against transcutaneous electrical stimulation (TENS) and standard care at reducing PSES.</p><p><strong>Methods and design: </strong>Overall, 297 people with PSES will be randomised (1:1:1) to one of 3 arms: Standard care (no electrical stimulation), TENS (conventional patterned electrical stimulation) or SHAPES (adaptive patterned electrical stimulation). Both SHAPES and TENS are delivered using a specially designed electrical stimulation sleeve used for 60 min each day for 6-weeks. Outcome measures are completed at baseline, end of treatment (EOT 6 weeks) and then 6-weeks, 12-weeks and 24-weeks after the end of treatment. Efficacy will be determined based on the proportion of participants experiencing meaningful improvement (18%) in the 7-day Numerical Rating Scale (NRS-S) for PSES, compared between both intervention arms and standard care, and between the two intervention groups. Measures of arm motor function (Action Research Arm Test, MRC scale), and quality of life (SQoL-6D, EQ-5D) will also be measured along with a parallel health economic evaluation.</p><p><strong>Discussion: </strong>The results of the SHAPES trial will inform management of elbow spasticity after stroke. The SHAPES intervention is a low cost, self-administered intervention for the management of spasticity that can be used repeatedly, and if found to be more effective than TENS or control has the potential to be widely implemented in the UK NHS healthcare setting. Furthermore, despite the wide use of TENS in the management of spasticity, this study will provide critically required evidence regarding its efficacy. The trial has been registered with the ISRCTN registry (ISRCTN26060261).</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"437"},"PeriodicalIF":2.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-09DOI: 10.1186/s12883-024-03909-4
Jinyi Song, Shanshan Hu, Liang Chen, Chaoyang Lan, Peilin Lu
{"title":"Case report: orthostatic hypotension as the first presentation of progressive encephalomyelitis with rigidity and myoclonus (PERM) with multiple autoimmune antibodies.","authors":"Jinyi Song, Shanshan Hu, Liang Chen, Chaoyang Lan, Peilin Lu","doi":"10.1186/s12883-024-03909-4","DOIUrl":"10.1186/s12883-024-03909-4","url":null,"abstract":"<p><strong>Introduction: </strong>Stiff person syndrome (SPS) is a rare disease characterized by axial and lower-extremity muscle rigidity, muscle spasm, and pain. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS. This case is particularly notable for its uncommon initial symptom: orthostatic hypotension, coupled with the presence of multiple antibodies. Such a presentation is a rarity in the context of PERM, thus providing a fresh and unique angle for both diagnosis and treatment.</p><p><strong>Case presentation: </strong>This case presents a 71-year-old man who was ultimately diagnosed with progressive encephalomyelitis with rigidity and myoclonus (PERM). His initial symptom was orthostatic hypotension, and we detected multiple antibodies such as GlyR antibody, GAD antibody, GM1-IgG and GQ1b-IgG in his serum. The patient showed partial response to glucocorticoid and immunoglobulin therapies, but as the disease recurred and progressed, plasma exchange, rituximab, and cyclophosphamide immunosuppressive therapy was administered, the prognosis remained poor. During follow-up after treatment, the patient developed pulmonary embolism and cardiac arrest, and died.</p><p><strong>Conclusion: </strong>PERM exhibits diverse manifestation and pathogenic mechanisms. Immune heterogeneity affects clinical symptoms and prognosis. Cases of PERM combined with orthostatic hypotension and various antibodies have rarely been reported, the incidence and the specific mechanism is unknown, underscoring the need for further research. This case report underscores the importance of recognizing the diverse clinical presentations of PERM and the challenges in its diagnosis and management. It highlights autonomic dysfunction may be as the initial symptom of PERM. Moreover, it emphasizes the limitations of current treatment modalities and the necessity for further research to elucidate the underlying mechanisms and optimize therapeutic approaches for this debilitating autoimmune condition.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"435"},"PeriodicalIF":2.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-07DOI: 10.1186/s12883-024-03923-6
Hannah Kuhn, Tara Petzke, Marie-Christin Schreiber, Charly Gaul, Michael Witthöft, Timo Klan
{"title":"German language adaptation of the Cluster Headache Quality of Life Scale (CH-QoL).","authors":"Hannah Kuhn, Tara Petzke, Marie-Christin Schreiber, Charly Gaul, Michael Witthöft, Timo Klan","doi":"10.1186/s12883-024-03923-6","DOIUrl":"10.1186/s12883-024-03923-6","url":null,"abstract":"<p><strong>Background: </strong>Cluster headache (CH) can lead to high disability and reduced quality of life (QoL). QoL should be assessed as an important outcome both in research and in clinical care. The 28-item Cluster Headache Quality of Life Scale (CH-QoL) is a valid self-report questionnaire to assess disease-specific QoL. A German version is lacking. This study aims to develop a German-language version and to determine its psychometric properties.</p><p><strong>Methods: </strong>The CH-QoL was translated into German by two headache experts and blindly back-translated by two professional translators. Additionally, the CH-QoL was tested for comprehensibility by nine persons with CH. In this multi-stage process, linguistic discrepancies were repeatedly discussed in an expert panel and appropriate modifications were conducted to optimize the translation. A cross-sectional online survey, comprising the CH-QoL and further self-report questionnaires such as the Cluster Headache Scales (CHS), yielded a sample of N = 106 persons with CH (53.8% female, M = 45.5 [SD = 11.8] years, 48.1% episodic CH, 51.9% chronic CH, 79.2% currently having recurring CH attacks).</p><p><strong>Results: </strong>Exploratory factor analysis revealed two clearly interpretable factors (\"restriction of activities of daily living\", and \"impact on mood and interpersonal relationships\"), which is in discrepancy to the four factors of the original English version. The model fit was good, with χ<sup>2</sup>(323) = 590.74, p < .001, RMSEA = 0.088, SRMR = 0.053, TLI = 0.857. Reliability was very good (McDonald's omega ω = 0.97, Subscale/Factor 1: ω = 0.96, Subscale/Factor 2: ω = 0.92). Correlational analyses (correlations with related questionnaires as well as with clinical parameters) confirmed convergent validity.</p><p><strong>Conclusions: </strong>Since the German version of the CH-QoL has very good psychometric properties, it is suitable for the assessment of disease-specific QoL in people with CH in German-speaking countries.</p><p><strong>Trial registration: </strong>This study is registered with the German Clinical Trials Register (DRKS-ID: DRKS00028475, registration date 03 March 2022).</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"433"},"PeriodicalIF":2.2,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Risk factors for puncture-related complications after cerebrovascular angiography and neuroendovascular intervention with distal transradial approach.","authors":"Weikai Wang, Yonggang Ma, Chao Wang, Peng Shi, Weibo Lv, Guangliang Fan, Chao Sun","doi":"10.1186/s12883-024-03940-5","DOIUrl":"10.1186/s12883-024-03940-5","url":null,"abstract":"<p><strong>Background and purpose: </strong>To determine the risk factors for puncture-related complications after the distal transradial approach (dTRA) for cerebrovascular angiography and neuroendovascular intervention and to explore the incidence and potential mechanisms of procedural failure and puncture-related complications.</p><p><strong>Materials and methods: </strong>From February to November 2023, 62 patients underwent dTRA in our department. Demographic, clinical, and procedural data were collected retrospectively. Postoperative puncture-related complications were defined as a syndrome of major hematoma, minor hematoma, arterial spasm/occlusion, arteriovenous fistula, pseudoaneurysm, and neuropathy. Univariate and multivariate logistic regressions were performed to identify significant factors contributing to puncture-related complications.</p><p><strong>Results: </strong>Forty-five diagnostic cerebral angiograms and 17 neurointerventions were performed or attempted with dTRA in 62 patients. Procedural success was achieved via dTRA in 47 (75.8%) patients, whereas 15 (24.2%) required conversion to other approaches. Reasons for failure included puncture failure (n = 8), inability to cannulate due to arterial spasm (n = 6), and inadequate catheter support of the left vertebral artery (n = 1). 17.0% (8/47) of patients had postoperative puncture-related complications. Minor hematoma occurred in 8.5% (4/47) of patients, arterial spasm/occlusion in 6.3% (3/47), and neuropathy in 2.1% (1/47). No major complications were observed. On stepwise multivariable regression analysis, BMI (OR = 0.70, 95%CI 0.513 to 0.958; p = 0.026) was an independent risk factor for puncture-related complications, with a cut-off of 24.8 kg/m<sup>2</sup> (sensitivity 66.7% and specificity 87.5%).</p><p><strong>Conclusion: </strong>Our cohort is the first study of risk factors for puncture-related complications after neurointerventional interventions with dTRA. This study has shown that a low BMI (< 24.8 kg/m<sup>2</sup>) is independently associated with the development of puncture-related complications.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"432"},"PeriodicalIF":2.2,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-05DOI: 10.1186/s12883-024-03934-3
Biancamaria Treves, Francesca Consalvo, Giuseppe Delogu, Donato Morena, Martina Padovano, Alessandro Santurro, Matteo Scopetti, Vittorio Fineschi
{"title":"Osmotic demyelination syndrome: revisiting the diagnostic criteria through two fatal cases.","authors":"Biancamaria Treves, Francesca Consalvo, Giuseppe Delogu, Donato Morena, Martina Padovano, Alessandro Santurro, Matteo Scopetti, Vittorio Fineschi","doi":"10.1186/s12883-024-03934-3","DOIUrl":"10.1186/s12883-024-03934-3","url":null,"abstract":"<p><strong>Background: </strong>Osmotic Demyelination Syndrome (ODS) encompasses Central Pontine Myelinolysis and Extrapontine Myelinolysis, both of which are serious neurological conditions linked to the overly rapid correction of hyponatremia. Despite growing evidence, the exact etiology of ODS remains incompletely understood. The present paper describes two case studies, aiming to provide a comprehensive overview of the pathological findings and clinical outcomes associated with ODS.</p><p><strong>Case presentation: </strong>Case #1. A 74-year-old woman was admitted to the emergency department following a head trauma caused by a loss of consciousness. Initial laboratory tests revealed severe hyponatremia (sodium level of 101 mmol/L) and hypokalemia (potassium level of 2.9 mmol/L). The patient underwent corrective therapy with saline and potassium chloride. Despite the correction of electrolyte imbalances, the patient developed a hyperintense lesion in the median portion of the pons on T2-fluid-attenuated inversion recovery (FLAIR) MRI sequence 14 days post-treatment, consistent with ODS. The patient's condition deteriorated, leading to irreversible coma and status epilepticus, culminating in death 32 days after admission. Case #2. An 81-year-old woman with a medical history of hypothyroidism, hypertension, major depression, and stage 3 chronic kidney disease presented with mild gait disturbances. Subsequent testing revealed severe hyponatremia (sodium level of 100 mmol/L). Following an initial clinical improvement due to sodium correction, the patient's condition worsened, with symptoms progressing to confusion, lethargy, and eventually, ODS. Dermatological manifestations, including blistering lesions and facial edema, appeared as the condition advanced. The patient succumbed to irreversible coma 47 days after admission.</p><p><strong>Conclusion: </strong>ODS traditionally carried a poor prognosis, with high mortality rates and diagnoses often made postmortem. However, recent advances in understanding the pathophysiology, along with improvements in diagnostic techniques such as MRI and intensive care treatments, have led to earlier identification, treatment, and recognition of milder forms of the syndrome. Despite these advancements, ODS remains a critical condition with significant risks, particularly following the rapid correction of severe hyponatremia.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"428"},"PeriodicalIF":2.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-05DOI: 10.1186/s12883-024-03925-4
Jinliang Deng, Xiuxiao Chen, Yi Bu, Jinru Zhang, Jingzhe Han
{"title":"Exploring the appropriate situation of performing CSF mNGS in patients with proposed intracranial infections.","authors":"Jinliang Deng, Xiuxiao Chen, Yi Bu, Jinru Zhang, Jingzhe Han","doi":"10.1186/s12883-024-03925-4","DOIUrl":"10.1186/s12883-024-03925-4","url":null,"abstract":"<p><strong>Background: </strong>Identifying the responsible pathogen is crucial for precision medicine in intracranial infections, and Cerebrospinal Fluid (CSF) Metagenomic Next-Generation Sequencing (mNGS) is a reliable method for this detection. However, the indiscriminate utilization of this approach may impose a financial burden on both patients and society. The study aims to investigate the optimal conditions for applying CSF mNGS in patients with suspected intracranial infections, offering valuable references for precision medicine of intracranial infections.</p><p><strong>Methods: </strong>A total of 175 hospitalized patients presenting with suspected intracranial infections were selected for retrospective analysis. Base on the detection of responsible pathogens using CSF mNGS, the patients were categorized into two groups, responsible pathogens in Group A were detected but not in Group B. The types of responsible pathogens in group A and the final diagnosis of patients in group B were analyzed. Demographic data, clinical presentation, CSF analysis, imaging results, and electroencephalography (EEG) findings were analyzed for both groups. Finally, a scoring system was established to promptly assess the appropriateness of CSF mNGS for patients with suspected intracranial infections. Each independent predictor was assigned a score of 1, and the patients were subsequently scored. We advocate sending patients' CSF for mNGS when the cumulative score is ≥ 2.</p><p><strong>Results: </strong>In Group A, the predominant responsible pathogen was the varicella-zoster virus (VZV), while Group B exhibited the highest proportion of final diagnoses related to epilepsy. The logistic regression model indicates that headache [OR = 2.982, 95% CI (1.204-7.383), p = 0.018], increased cerebrospinal fluid white cell count [OR = 4.022, 95% CI (1.331-12.156), p = 0.014], and decreased cerebrospinal fluid glucose levels [OR = 9.006, 95% CI (2.778-29.194), P < 0.001] are independent predictive factors for intracranial infection pathogens detected by CSF mNGS. Under this scoring system, the sensitivity for detecting the responsible pathogen was 57.5%, and the specificity was 87.4%.</p><p><strong>Conclusion: </strong>The likelihood of detecting the responsible pathogen through CSF mNGS in patients with suspected intracranial infections can be evaluated using the scoring system. Furthermore, it is crucial to consider the possibility of another condition, such as epilepsy, when the responsible pathogen is not detected using cerebrospinal fluid mNGS.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"429"},"PeriodicalIF":2.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-05DOI: 10.1186/s12883-024-03936-1
Rida Jaber, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar
{"title":"Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria.","authors":"Rida Jaber, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar","doi":"10.1186/s12883-024-03936-1","DOIUrl":"10.1186/s12883-024-03936-1","url":null,"abstract":"<p><strong>Background: </strong>Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the accumulation of certain substances that impact the production of various brain neurotransmitters and enzymes.</p><p><strong>Case presentation: </strong>Our report presents the first documented case of pyridoxine dependency in Syria. The female infant, born to consanguineous parents, exhibited seizures on the second day of life. Despite the administration of multiple antiepileptic medications, seizures persisted. A comprehensive assessment, including metabolic evaluation, electroencephalography, and phenotypic characteristics of seizures, prompted genetic testing for pyridoxine-dependent epilepsy, which identified a homozygous likely pathogenic variant in the ALDH7A1 gene, confirming the diagnosis of this condition. Subsequently, the baby was put on oral pyridoxine, resulting in complete cessation of seizures.</p><p><strong>Conclusions: </strong>Due to its rarity, this condition was initially overlooked and led to an inappropriate therapeutic approach. Pyridoxine dependency should be considered after the manifestation of refractory seizures, as increased awareness can enable early diagnosis, appropriate treatment, and avoid unnecessary use of antiepileptic drugs. However, predicting the long-term outcome remains challenging.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"430"},"PeriodicalIF":2.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-05DOI: 10.1186/s12883-024-03941-4
Yuyan Sun, Sheng Gao, Hairong Liu, Chunyang Meng
{"title":"Intradural extramedullary cystic lesions: an interesting cauda equina cysticercosis case report and a literature review.","authors":"Yuyan Sun, Sheng Gao, Hairong Liu, Chunyang Meng","doi":"10.1186/s12883-024-03941-4","DOIUrl":"10.1186/s12883-024-03941-4","url":null,"abstract":"<p><strong>Background: </strong>Intraspinal cysticercosis, usually with serious neurological deterioration, is rarely diagnosed because its clinical manifestations are nonspecific, and most physicians might not be familiar with its imaging features.</p><p><strong>Case presentation: </strong>A 50-year-old woman presented with a 2-month history of increasing pain in her right buttock, rectal tenesmus and uncontrolled micturition. Intradural extramedullary cystic lesion was found, and the characteristic MRI findings of a living cysticercus and a dying cysticercus were presented simultaneously. Finally, the giant intraspinal cysticercus was treated by surgery and antiparasitic treatment.</p><p><strong>Conclusions: </strong>This case emphasizes that the characteristic imaging findings of different cysticercus cysts as well as the detailed personal history usually provide useful diagnostic clues. Cerebrospinal fluid analysis may aid in confirming the diagnosis.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"431"},"PeriodicalIF":2.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2024-11-04DOI: 10.1186/s12883-024-03939-y
Ge Tian, Jing Huang, Jiajia Zhu, Qiheng Wu, Jia Yin
{"title":"In-depth hemodynamic assessment in acute mild stroke patients with large vessel occlusion or stenosis.","authors":"Ge Tian, Jing Huang, Jiajia Zhu, Qiheng Wu, Jia Yin","doi":"10.1186/s12883-024-03939-y","DOIUrl":"10.1186/s12883-024-03939-y","url":null,"abstract":"<p><strong>Objective: </strong>Acute treatment in mild stroke patients with acute anterior circulation large vessel occlusion/stenosis (AACLVO/S) had limited evidence. Hemodynamic play an important role in neurological deterioration. We aimed to investigate predictor value of hemodynamic assessment for clinical outcome predicting and guiding individual therapeutic decisions in those patients.</p><p><strong>Methods: </strong>We retrospectively analyze the stroke database in our stroke center. We recruited patients with mild stroke, defined by National Institutes of Health Stroke Scale (NIHSS) score ≤ 5, caused by AACLVO/S treated with just medical management (MT). They all received cerebral autoregulation (CA) assessments within 72 h after stroke onset. The primary end point was clinical outcome at 90-day after stroke.</p><p><strong>Results: </strong>Logistic regression analysis showed that bilateral higher baseline phase difference (PD) were independent variables related to favorable 90-day outcome, (OR 0.963, 95% CI 0.936-0.991, p = 0.040; OR 0.943, 95% CI 0.970-0.997; p = 0.008, respectively). The optimal cutoff value of bilateral PD was > 34.97º and > 14.29º respectively.</p><p><strong>Conclusion: </strong>CA evaluation can provide hemodynamic status in mild stroke patients with AACLVO/S.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"426"},"PeriodicalIF":2.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11533346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}