Neurohospitalist最新文献

{"title":"Subarachnoid Hemorrhage, CNS Vasculitis and Stroke as a Sequela of Q Fever Infection.","authors":"Melinda C Arthur, Christopher S Medina, Erin Penn, Hector Ojeda-Martinez, Elie Dancour, Paul Wright","doi":"10.1177/19418744251361313","DOIUrl":"10.1177/19418744251361313","url":null,"abstract":"<p><p>A 64-year-old female with a history of Subarachnoid Hemorrhage (SAH) of non-aneurysmal origin underwent 4 cerebral Digital Subtraction Angiography (cDSA) studies to investigate the cause of the SAH. All angiograms were unrevealing. Two years and 3 months following her SAH, she presented to the emergency department with ataxia and aphasia. Magnetic Resonance Imaging (MRI) of the brain without contrast showed a right posterior parietal lobe stroke with a watershed appearance and a chronic right cerebellar infarct with encephalomalacia. Repeat cDSA showed stenosis in the right A3 of the Anterior Cerebral Artery (ACA) and right M2 of the Middle Cerebral Artery (MCA) suggesting CNS vasculitis. Known reversible and secondary causes of CNS vasculitis were tested and found to be negative. However, Indirect Immunofluorescence Assay (IFA) testing revealed a high titer of IgG phase II Coxiella indicating acute Q fever. CDC lab findings from 10 years earlier also showed a high titer IgG phase II Coxiella, indicating untreated Q fever prior to the SAH event. A whole-body Positron Emission Tomography (PET) scan was negative for systemic or CNS vasculitis. The patient was treated for Q fever and CNS vasculitis with 1 year of doxycycline and hydroxychloroquine. There was no recurrence of symptoms 15 months after treatment. We conclude that Q fever can present with SAH in addition to CNS vasculitis and stroke.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251361313"},"PeriodicalIF":0.9,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12274206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676076","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":"Clot Migration after Tenecteplase (TNK): A Potential Cause of Neurological Deterioration in Stroke Patients.","authors":"Salvador F Gutierrez-Aguirre, Otavio F De Toledo, Amin Aghaebrahim, Eric Sauvageau, Mohamad Chmayssani, Ricardo A Hanel, Diane McLaughlin","doi":"10.1177/19418744251361744","DOIUrl":"10.1177/19418744251361744","url":null,"abstract":"<p><strong>Background: </strong>Tenecteplase (TNK) has been increasingly adopted as an alternative to alteplase (tPA) for ischemic stroke due to its ease of administration and pharmacologic advantages. However, recent studies suggest TNK may be associated with a higher incidence of clot migration, potentially contributing to early neurologic deterioration.</p><p><strong>Objective: </strong>To describe the incidence and clinical impact of clot migration following TNK administration in acute ischemic stroke patients.</p><p><strong>Methods: </strong>We retrospectively reviewed consecutive patients treated with TNK at our Comprehensive Stroke Center between May and August 2023. Clot migration was defined as a change in thrombus position without full distal reperfusion. Neurologic deterioration was defined as an NIHSS increase ≥4 or new-onset deficit. All patients underwent pre- and post-TNK vascular imaging.</p><p><strong>Results: </strong>Among 53 patients treated with TNK, 12 (22.6%) experienced neurological deterioration. Clot migration was identified in 4 patients (8.3%) among those with confirmed vessel occlusion on baseline imaging (n = 48). All exhibited new occlusions in anatomically compatible sites and clinical worsening shortly after TNK. One patient required mechanical thrombectomy; the remaining 3 had distal occlusions or low NIHSS scores. At discharge, two patients had good outcomes (mRS ≤2), and two had poor outcomes (mRS >2).</p><p><strong>Conclusion: </strong>Clot migration may contribute to early neurologic deterioration following TNK, particularly in posterior circulation strokes. Outcomes appear to depend on final clot location and clinical severity. As TNK becomes more widely used, increased awareness and early vascular imaging are critical for recognizing this phenomenon and guiding management.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251361744"},"PeriodicalIF":0.9,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12264247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660647","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":"Opsoclonus-Myoclonus-Ataxia Syndrome in a Patient With West Nile Virus: Case Report and a Patient's Experience.","authors":"Alexander Wallace, Jonathan Thomas, Jake Boren, Chris Bryant, Jonathan Brewer, Rahim Dhanani","doi":"10.1177/19418744251361303","DOIUrl":"10.1177/19418744251361303","url":null,"abstract":"<p><p>Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological condition most often diagnosed as a paraneoplastic or parainfectious syndrome. There have been some reports of OMAS in association with West Nile virus (WNV) in the literature, but both treatment and outcomes have been variable. Furthermore, some evidence suggests that patients who are treated earlier in the disease course have better outcomes, both in terms of time to disease remission and long-term symptom relief. Here, we present the case of a healthy 26-year-old patient who suddenly developed tremulousness and weakness of the lower extremities which progressively worsened over the course of 5 days; during this time, the patient developed nausea, gait unsteadiness, and rapid uncontrollable eye movements, leading to his hospital presentation. On hospital day two, the patient was diagnosed with OMAS due to exam findings of rapid, conjugate, saccadic bursts and myoclonic muscle activity, with serum and cerebrospinal fluid studies positive for WNV. Treatment with intravenous steroids and immunoglobulin began immediately afterwards and resulted in rapid improvement by the time of discharge 7 days after treatment was initiated. This case demonstrates the importance of developing broad differential diagnoses for uncommon disease presentations and the importance of treatment timeliness for better outcomes of OMAS. Furthermore, this report shows the need for more systematic studies on OMAS treatment and outcomes, as the current literature is somewhat limited due to the sporadic nature of the disease. Lastly, we highlight the patient's own heartfelt narrative of this illness and his experiences with recovery.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251361303"},"PeriodicalIF":0.9,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676075","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":"Eye Movement Abnormalities After Thalamo-Mesencephalic Junction Infarction.","authors":"Arens Taga, Ariel Winnick, Kemar Green","doi":"10.1177/19418744251360300","DOIUrl":"10.1177/19418744251360300","url":null,"abstract":"<p><p>A 54-year-old man presented with coma and left mydriasis due to bilateral thalamic and left paramedian midbrain infarcts. Workup revealed paradoxical embolism from an intrapulmonary shunt. As the patient's mental status improved, complex eye movement abnormalities emerged, including vertical ophthalmoplegia, bilateral ptosis, and right pseudo-abducens palsy. This case highlights the complex and often-overlooked ocular motor neural circuitry in the thalamo-mesencephalic junction.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251360300"},"PeriodicalIF":0.9,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660648","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":"New Onset Medically Refractory Seizures in an Adult With Parkinson's Disease and Vitamin B6 Deficiency Case Report.","authors":"Cody L Nathan, Dina Ghandour, Jasmine May, Danny Bega, Stephan Schuele","doi":"10.1177/19418744251360306","DOIUrl":"10.1177/19418744251360306","url":null,"abstract":"<p><strong>Background: </strong>The association between Parkinson's disease and epilepsy remains unclear. A higher proportion of patients with Parkinson's disease who have experienced seizures had at least one episode of status epilepticus compared to healthy controls. It is crucial to distinguish whether seizures are provoked or unprovoked as this changes the long-term treatment plan and prognosis.</p><p><strong>Case presentation: </strong>We report a case of new onset seizures refractory to multiple anti-seizure medications in a patient with Parkinson's disease in the context of vitamin B6 deficiency. The seizures started after a recent increase in carbidopa/levodopa dose. Seizures resolved with pyridoxine supplementation. The patient was able to successfully wean off all anti-seizure medications without any further seizures and had incomplete normalization of EEG.</p><p><strong>Practical implications: </strong>Clinicians should consider vitamin B6 deficiency as an etiology for new-onset refractory seizures in patients with Parkinson's disease on carbidopa/levodopa. Repletion of vitamin B6 can be curative, and patients may ultimately not require long term anti-seizure medications.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251360306"},"PeriodicalIF":0.9,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12240981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627327","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":"Retrospective Study Supports that Pharmacologic Venous Thromboembolism Prophylaxis After Intracerebral Hemorrhage is Safe, Underused.","authors":"Camille Lh Carlisle, Tamela Stuchiner, Alexandra Lesko, John Zurasky","doi":"10.1177/19418744251358092","DOIUrl":"10.1177/19418744251358092","url":null,"abstract":"<p><strong>Background: </strong>Patients with spontaneous non-traumatic intracerebral hemorrhage (ICH) have a heightened risk for venous thrombosis (VTE). The Stroke 2022 Guidelines suggest initiating pharmacologic prophylaxis after hemorrhage stabilization, as measured on repeat imaging within the first 24 hours of admission. However, pharmacologic prophylaxis is underutilized and there remain concerns that initiation of pharmacologic prophylaxis could increase hemorrhage size. This study examines the safety of initiating pharmacologic prophylaxis after hemorrhage stabilization.</p><p><strong>Methods: </strong>This was a retrospective study of patients discharged with nontraumatic spontaneous ICH. The study population was from Providence Medical Centers in Washington, Oregon, and California. Patients, 18 years or older, presenting to a hospital between January 2018 and December 2021 with a primary diagnosis at discharge of ICH were included.</p><p><strong>Results: </strong>Among the 228 included, 65.4% (n = 149) received mechanical prophylaxis only and 34.6% (n = 79) received any pharmacologic prophylaxis (with or without mechanical prophylaxis). Of those patients who received any pharmacologic prophylaxis, 55.7% (44) were administered pharmacologic prophylaxis within 48 hours of stabilization. There were no significant differences in age, sex, medical history, hemorrhage type, severity, or mortality in-hospital or at 30 days.</p><p><strong>Conclusion: </strong>There were no significant differences in VTE events and hemorrhage expansion for spontaneous ICH patients who had pharmacologic with or without mechanical prophylaxis or mechanical only, consistent with previous literature. For patients who received pharmacologic prophylaxis after stabilization, none had hemorrhage expansion; our data support the 2022 guidelines that it is safe to administer pharmacologic prophylaxis after hemorrhage stabilization.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251358092"},"PeriodicalIF":0.9,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12228634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585187","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":"Evaluation of Brain Abscess Prognostic Factors and Role of Surgical Intervention Within a Single Health System.","authors":"Jamie E Cronin, Timothy H Ung, Amanda L Piquet, Kelli M Money","doi":"10.1177/19418744251353544","DOIUrl":"10.1177/19418744251353544","url":null,"abstract":"<p><strong>Purpose: </strong>Evaluate patient, clinical, and treatment variables impacting mortality in patients with brain abscesses.</p><p><strong>Background: </strong>Brain abscesses are intraparenchymal infectious foci with significant morbidity and mortality. Management includes antimicrobial therapy +/- surgical intervention, and is dependent on suspected pathogen/source, patient factors, and clinician judgement. Treatment type and duration vary substantially and are often guided by imaging, inflammatory markers, and symptoms.</p><p><strong>Methods: </strong>186 patients with brain abscesses admitted at a single health system between 2010 and 2022 were analyzed. Patient demographics, clinical course, diagnostic studies, and abscess treatment were assessed for impact on mortality during admission via univariate and stepwise multivariate nominal logistic regression. Secondary outcomes of surgical drainage were evaluated with univariate and multivariate nominal logistic regression, and survival over time of those who received surgical drainage vs those who did not was evaluated with Kaplan-Meier survival analysis.</p><p><strong>Results: </strong>10.7% of patients died during initial admission. Intravenous drug use, deep-seated abscess location, and surgical complication were independently predictive of death during admission. Patients without surgical intervention demonstrated increased likelihood of mortality over time but not during admission. Independent predictors of surgical intervention include lack of ventriculitis, larger abscess diameter, non-hematogenous or -pulmonary source, and mass effect.</p><p><strong>Conclusions: </strong>These findings suggest surgical intervention is generally avoided when infection is systemic, severe, or with intraventricular abscess rupture. Patients with overt symptoms of brain infection were more likely to receive prompt surgical drainage. In our patient population, surgical drainage in addition to antimicrobial therapy did not independently impact inpatient mortality although did impact overall survival.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251353544"},"PeriodicalIF":0.9,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12222098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576612","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":"Stroke in the Setting of Neurosyphilis: A Comprehensive Literature Review.","authors":"Juan Felipe Daza-Ovalle, Jose-Alejandro Ramirez-Penuela, David Ramirez-Castro, Charles Esenwa","doi":"10.1177/19418744251355654","DOIUrl":"10.1177/19418744251355654","url":null,"abstract":"<p><p><b>Background:</b> syphilis is globally recognized as a great imitator due to its multiple manifestations and multi-organ involvement. This holds especially true in the context of neurosyphilis (NS), where stroke and other cerebrovascular manifestations are frequently overlooked. With the global reemergence of syphilis, meningovascular syphilis (MVS) and other vascular syphilitic affectations are now important, yet underdiagnosed causes of ischemic stroke. <b>Purpose:</b> this literature review focuses on syphilis in the context of stroke, examining the condition through this specific perspective. The pathophysiological aspect focuses on immune-mediated endothelial injury and vascular inflammation as main mechanisms leading to stroke. <b>Analysis:</b> a broader approach to syphilis is initially described, showcasing the comprehensive medical workup necessary for accurate diagnosis of MVS and special treatment considerations. Diagnostic challenges of NS are initially exposed, with cerebrospinal fluid (CSF) analysis and neuroimaging playing critical roles. While CSF-VDRL remains the gold standard, although, its low sensitivity necessitates a multimodal diagnostic approach combining serological, clinical, and radiographic findings. MRI and angiographic studies often reveal concentric steno-occlusive arteriopathy, most commonly affecting the middle cerebral and basilar arteries. Early recognition is vital, as NS can mimic common neurovascular etiologies, particularly in the context of younger adults without traditional risk factors. Treatment involves intravenous penicillin G, corticosteroids and antiplatelet agents playing supportive roles. However, clinicians must weigh bleeding risks in specific cases, particularly in patients with syphilitic aneurysmal disease. <b>Conclusions:</b> timely diagnosis and treatment of NS and MVS are essential to prevent irreversible neurological damage and contribute to the reduction of global stroke burden.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251355654"},"PeriodicalIF":0.9,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12204990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530322","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":"Exploring the Link: Vitamin D Levels and Its Clinical Implications in Guillain-Barré Syndrome Patients.","authors":"Alejandro Lopez-Pizano, Edwin Steven Vargas-Cañas, Martin Bedolla-Barajas, Javier Andrés Galnares-Olalde, Victoria Martínez-Angeles, Juan Carlos López-Hernández","doi":"10.1177/19418744251350831","DOIUrl":"10.1177/19418744251350831","url":null,"abstract":"<p><strong>Introduction: </strong>Low levels of Vitamin D are associated with severe manifestations of autoimmune or inflammatory diseases; there is limited information regarding Guillain-Barré Syndrome (GBS).</p><p><strong>Objective: </strong>To determine the serum levels of vitamin D in patients with GBS compared with healthy controls.</p><p><strong>Materials and methods: </strong>A prospective observational study of consecutive patients with GBS based on EAN/PNS criteria over a year, from a single center was conducted. Clinical and paraclinical characteristics were obtained from the included patients upon admission; we determined the serum levels of Vitamin D (ng/ml) at admission and categorized them according to Vitamin D levels: sufficient >30 ng/mL, insufficient 20-30 ng/mL, and deficient <20 ng/mL. Poor prognosis was considered as non-independent walking at 3 months follow-up.</p><p><strong>Results: </strong>The study included 56 patients with GBS (Guillain-Barré Syndrome) and 56 healthy control patients. The control group exhibited higher median levels of vitamin D compared to the GBS patient group [(29.9 ng/dl (IQR 24-34.8) vs 17.1 ng/dl (IQR 13.7-23.8 ng/dl), <i>P</i> < 0.001]. Only 9% (95% CI 1-19%) of the GBS patients had sufficient levels of vitamin D. In correlation analysis, significant differences were found between Vitamin D levels and glucose levels (r2 = -.36, <i>P</i> = 0.007) and the glucose-leukocyte index (GLI) (r2 = -.42, <i>P</i>=<0.001). In comparative analysis (Vitamin D levels ≤15 ngs/ml/ vs ≥ 16 ng/mL), the presence of dysautonomias, facial diparesis, leukocytes, glucose-leukocyte index (GLI), and glucose levels were significant; in the Kaplan-Meier survival analysis, patients with Vitamin D levels ≤15 ngs/ml showed lesser recovery in independent walking at 3 months (log-rank = 0.047).</p><p><strong>Conclusion: </strong>Patients with GBS and low levels of Vitamin D exhibit a higher frequency of dysautonomias, higher GLI, and lesser recovery of independent walking.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251350831"},"PeriodicalIF":0.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12162538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303269","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":"Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.","authors":"Yutaka Furuta, Neena S Agrawal, Angela R Grochowsky, Rory J Tinker, Bret C Mobley, Karra A Jones, Thomas A Cassini","doi":"10.1177/19418744251348055","DOIUrl":"10.1177/19418744251348055","url":null,"abstract":"<p><p>Late-onset Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by acid α-glucosidase deficiency, resulting in progressive skeletal muscle weakness and respiratory failure. We present the case of a 43-year-old African American woman who was admitted to the intensive care unit with acute-on-chronic hypoxemic and hypercarbic respiratory failure, alteration of consciousness, and progressive weakness. Her recent medical history included respiratory distress and aspiration pneumonia, which had not fully resolved despite supplemental oxygen therapy. On admission, initial evaluations including imaging and laboratory tests did not reveal a diagnosis. Muscle biopsy showed a vacuolar myopathy with excess glycogen suggestive of glycogen storage disease. Enzyme testing was obtained through the dried blood spot testing and was low. Molecular genetic testing identified two pathogenic variants in the <i>GAA</i> gene, confirming the diagnosis of late-onset Pompe disease. This diagnosis enabled the prompt initiation of enzyme replacement therapy (ERT) with alglucosidase alpha. The early initiation of ERT in this patient was pivotal in managing her condition, given the progressive nature of late-onset Pompe disease and the potential for improved outcome when treatment is started early. This case highlights the importance of considering late-onset Pompe disease in adults presenting with unexplained progressive respiratory and neuromuscular symptoms. It also demonstrates the critical role of biochemical and molecular genetic testing, as early intervention can significantly impact treatment outcomes and quality of life.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251348055"},"PeriodicalIF":0.9,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250230","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}