Case Reports in Neurology最新文献

{"title":"Progressive Hemiparesis Revealing an Atypical Large-Vessel Vasculitis: A Case Report Tackling a Diagnostic Overlap.","authors":"Rami Abdul Malak, Idriss Youcef Zoubeïdi, Julien Vanderhulst, Anissa Ourtani","doi":"10.1159/crn/abyag001","DOIUrl":"https://doi.org/10.1159/crn/abyag001","url":null,"abstract":"<p><strong>Introduction: </strong>Large-vessel vasculitis (LVV) is a rare cause of ischemic stroke and may pose significant diagnostic challenges, particularly when classical systemic or inflammatory features are absent. Distinguishing between giant cell arteritis and Takayasu arteritis can be especially difficult in older patients with overlapping clinical and radiological findings.</p><p><strong>Case presentation: </strong>We report the case of a woman in her 60s presenting with progressive left-sided weakness and multifocal ischemic strokes. Vascular examination revealed marked inter-arm blood pressure asymmetry, absent right radial pulse, and diffuse arterial bruits. Imaging demonstrated extensive circumferential thickening and stenosis of the aorta and its major branches. Extensive investigations excluded cardioembolic, thrombotic, malignant, and infectious causes. Inflammatory markers were normal, whole-body ¹⁸F-fluorodeoxyglucose positron emission tomography-computed tomography showed no hypermetabolic activity, and temporal artery biopsy was nondiagnostic. The clinical and imaging phenotype was consistent with LVV-spectrum disease, although the patient did not fulfill ACR/EULAR classification criteria for either giant cell arteritis or Takayasu arteritis. She was treated with corticosteroids and methotrexate, with stabilization of neurological deficits.</p><p><strong>Conclusion: </strong>This case illustrates the limitations of existing classification frameworks when confronted with borderline or overlapping LVV phenotypes, particularly in elderly patients with atypical presentations, and underscores the importance of clinical judgment when evaluating atypical stroke presentations.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"490-497"},"PeriodicalIF":0.4,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13688597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149263255","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":"Delayed Aneurysmal Rupture following Flow Diverter Placement despite Adjunctive Coiling: Case Report.","authors":"Mikael Aseged Shimekit, Samuel Masresha Fetene, Eskedar Kebede Belayneh, Kaleab Eticha, Michael Yirgalem Teka, Eden Enyew Zeleke, Bisrat Germame, Meti Taye, Tariku Assefa, Wondwossen G Tekle","doi":"10.1159/000551600","DOIUrl":"https://doi.org/10.1159/000551600","url":null,"abstract":"<p><strong>Introduction: </strong>Flow diverters significantly alter the inflow dynamics of an aneurysm, leading to both qualitative and quantitative changes in the intra-aneurysmal hemodynamic environment (AJNR Am J Neuroradiol. 2014 Aug 1;35(8):1567-73).</p><p><strong>Case presentation: </strong>A 65-year-old woman with a giant left internal carotid artery aneurysm causing visual symptoms underwent treatment with coiling, Surpass Evolve flow diverter placement, and balloon angioplasty. Despite being on dual antiplatelet therapy, she developed in-stent thrombosis on postoperative day 4, leading to neurological symptoms. Intra-arterial thrombolysis with eptifibatide and tenecteplase achieved near total recanalization and initial clinical improvement. However, she subsequently developed a massive subarachnoid hemorrhage and was declared brain dead the next day.</p><p><strong>Conclusion: </strong>Delayed rupture of an aneurysm following Surpass Evolve flow diverter embolization is a rare complication associated with high morbidity and mortality. In our case, in-stent thrombosis occurred on postoperative day 4 and subsequently progressed to aneurysmal rupture, despite the presence of coils within the aneurysm sac. Rupture on the fourth day after Surpass Evolve flow diverter placement - despite initial coil embolization - along with aneurysmal thrombosis, partial recanalization, thrombus extension into the parent vessel, and subsequent treatment with intra-arterial eptifibatide and tenecteplase highlights the profound hemodynamic instability in giant aneurysms that can contribute to post-procedural rupture.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"550-557"},"PeriodicalIF":0.4,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104556","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":"Facial Diplegia Guillain-Barre Syndrome Variant Initially Presenting as a Stroke Mimic: Evolution from Unilateral Central-Appearing Facial Weakness to Bilateral Facial Palsy - A Case Report.","authors":"Fadel Alqatati, Rowan Mesilhy, Mohammad Ghabashneh, Kholoud Riyad Jaber, Noora Al-Abdulla, Amin S Sanosi, Shibu Kandalam Parampil T","doi":"10.1159/000553626","DOIUrl":"https://doi.org/10.1159/000553626","url":null,"abstract":"<p><strong>Introduction: </strong>Facial diplegia is an uncommon regional variant of Guillain-Barre syndrome (GBS). It may initially resemble acute cerebrovascular disease when facial weakness appears unilateral or central in pattern.</p><p><strong>Case presentation: </strong>A 48-year-old Sri Lankan man with untreated hypertension, obesity, and newly recognized diabetes presented approximately 18 h after onset of slurred speech and persistent left facial weakness. Initial examination suggested a left central facial palsy, although incomplete left eye closure was also present. Non-contrast computed tomography and same-day brain magnetic resonance imaging with angiography, performed approximately 25 h after symptom onset, showed no acute infarction, hemorrhage, vascular occlusion, dissection, or significant stenosis. Over the next 48 h, facial weakness progressed to bilateral lower motor neuron facial palsy with mild dysphagia and weak gag reflex, while limb strength remained preserved. Cerebrospinal fluid showed albuminocytologic dissociation. Dedicated contrast-enhanced magnetic resonance imaging of the internal auditory canals showed no facial nerve enhancement; bilateral linear enhancement represented vascular enhancement. Electrodiagnostic testing showed facial motor terminal latency abnormalities, prolonged bilateral blink reflex responses, and facial muscle EMG abnormalities supportive of a facial diplegia GBS variant. Campylobacter testing and anti-ganglioside antibody testing were not performed. He received intravenous immunoglobulin 0.4 g/kg/day for 5 days and gradually improved.</p><p><strong>Conclusion: </strong>Facial diplegia GBS may initially trigger an acute stroke evaluation when early facial weakness appears unilateral or central. Repeated neurological examination, cerebrospinal fluid analysis, and neurophysiology are essential when persistent symptoms and negative neuroimaging argue against a vascular syndrome.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"541-549"},"PeriodicalIF":0.4,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104575","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":"Rapidly Progressive Multiple Ischemic Lesions Caused by <i>Cryptococcus neoformans</i> Infection Presenting with Meningoencephalitis and Cerebral Infarction as the Initial Manifestations: A Case Report.","authors":"Sijia Lai, Yan Li, Qijing Qin, Hui Qin, Wenyu Lu, Manfei Li, Huihui Liang, Li Wang, Kaihua Wang","doi":"10.1159/000553061","DOIUrl":"10.1159/000553061","url":null,"abstract":"<p><strong>Introduction: </strong><i>Cryptococcus neoformans</i> is an opportunistic pathogenic fungus that primarily infects individuals with compromised immune systems. Cryptococcosis caused by this fungus commonly affects the central nervous system and the lungs. This report describes a rare case of a patient who was negative for human immunodeficiency virus (HIV) and developed rapidly progressive multiple ischemic lesions secondary to infection with <i>C. neoformans</i>, initially presenting with meningoencephalitis and cerebral infarction.</p><p><strong>Case presentation: </strong>A 62-year-old male patient with a history of hypertension was admitted to the hospital because of altered mental status, behavioral changes, dizziness, and urinary retention. Laboratory tests revealed an HIV-negative result, leukocytosis, elevated inflammatory markers, and hyperglycemia. Magnetic resonance imaging of the head showed multiple scattered abnormal signals within the cranial cavity. Diffusion-weighted imaging, T2-weighted imaging, and fluid-attenuated inversion recovery sequences demonstrated high signal intensity, whereas T1-weighted imaging and the apparent diffusion coefficient sequence showed low signal intensity. These findings suggested multiple cerebral infarctions. The patient underwent lumbar puncture, which revealed elevated protein levels in the cerebrospinal fluid, decreased glucose and chloride levels, and a positive result for <i>Cryptococcus</i> capsular antigen in the cerebrospinal fluid. <i>Cryptococcus</i> was also detected by India ink staining of the cerebrospinal fluid. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry identified the isolate as <i>C. neoformans</i>. Based on these findings, the patient was diagnosed with cryptococcal meningoencephalitis caused by the <i>C. neoformans</i>, complicated by cerebral infarction. Despite receiving anti-infective treatments, anticoagulant, and glucocorticoid intervention, the patient's condition continued to deteriorate rapidly. The patient developed progressively worsening cerebral edema and pneumonia, accompanied by suspected subarachnoid hemorrhage, suspected venous sinus thrombosis, and subcutaneous/muscular edema of the abdominal wall. These findings suggested the presence of multiple ischemic lesions. After 16 days of treatment, the patient's family decided to discontinue medical care, and the patient was discharged voluntarily.</p><p><strong>Conclusion: </strong>In HIV-negative patients, <i>C. neoformans</i> infection may lead to rapidly progressive multiple ischemic lesions, initially presenting with meningoencephalitis and multiple cerebral infarctions. The disease progresses rapidly and carries an extremely poor prognosis. Early recognition, prompt antifungal and antithrombotic therapy, and further investigation of optimal glucocorticoid administration are critical for diagnosis and management.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"521-532"},"PeriodicalIF":0.4,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149007716","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":"When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder.","authors":"Amandine Goossens, Ann-Laurence Delabie, Tanguy Demaret, Deniz Karadurmus, Vincenzo Pignato","doi":"10.1159/000553486","DOIUrl":"10.1159/000553486","url":null,"abstract":"<p><strong>Introduction: </strong>Familial hemiplegic migraine (FHM) is a rare and complex inherited subtype of migraine with aura, characterised by migraine with a reversible motor aura, and may present with a wide spectrum of neurological symptoms, making diagnosis particularly challenging.</p><p><strong>Case presentation: </strong>We report a case of FHM presenting with prolonged hemiparesis, severe headache, altered consciousness, and fever. This constellation of symptoms initially suggested acute stroke, encephalitis, or status epilepticus. A precise clinical history and targeted genetic testing (CACNA1A, ATP1A2, SCN1A, and PRRT2) proved essential for establishing the diagnosis.</p><p><strong>Conclusion: </strong>This case highlights the wide phenotypic variability of FHM and the risk of misdiagnosis in emergency settings. Early recognition through careful clinical assessment and appropriate genetic testing enabled appropriate management and avoided unnecessary interventions.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"514-520"},"PeriodicalIF":0.4,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13499646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788560","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":"Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report.","authors":"Dipta Chandra Kuri, Sadeka Afrin Losy, Mohammad Sadekur Rahman Sarkar, Md Badrul Alam Mondal","doi":"10.1159/000553628","DOIUrl":"10.1159/000553628","url":null,"abstract":"<p><strong>Introduction: </strong>GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure the diagnosis and mimic neuropathic disorders.</p><p><strong>Case presentation: </strong>A 27-year-old Bangladeshi man presented with a 2-year history of progressive distal weakness, initially involving the left lower limb and later affecting the contralateral limb and distal upper extremities. Neurological examination revealed asymmetric distal weakness with bilateral foot drop and preserved sensory function. Serum creatine kinase was moderately elevated (892 U/L). Nerve conduction studies showed preserved sensory responses with reduced motor amplitudes, while electromyography demonstrated a distal-predominant myopathic pattern. Magnetic resonance imaging of the spine was unremarkable. Clinical exome sequencing identified a homozygous likely pathogenic variant in the GNE gene NM_005476.7:c.484C>T (p.Arg162Cys), confirming the diagnosis.</p><p><strong>Conclusion: </strong>This case highlights an asymmetric presentation of GNE myopathy mimicking peripheral neuropathy. Recognition of such phenotypic variability and integration of clinical, electrophysiological, and genetic findings are crucial for accurate diagnosis and to avoid misclassification as a neuropathic disorder.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"506-513"},"PeriodicalIF":0.4,"publicationDate":"2026-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13499648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788413","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":"Superimposed Carpal Tunnel Syndrome in a Patient with Charcot-Marie-Tooth Disease Type 1A: Case Report and Diagnostic Considerations.","authors":"Kacie Shannon, Haibi Cai","doi":"10.1159/000553624","DOIUrl":"https://doi.org/10.1159/000553624","url":null,"abstract":"<p><strong>Introduction: </strong>We present a case of Charcot-Marie-Tooth disease type 1A (CMT1A) complicated by symptoms concerning for superimposed carpal tunnel syndrome (CTS). Diagnostic interpretation was challenging due to overlapping electrodiagnostic and ultrasound findings typical of CMT1A.</p><p><strong>Case presentation: </strong>A 54-year-old woman with genetically confirmed CMT1A reported bilateral intermittent burning, numbness, and tingling in digits 1-3, worse at night and with hand use. Physical exam revealed positive Tinel's and Phalen's signs bilaterally with preserved motor strength and no thenar atrophy. Electrodiagnostic studies showed diffuse demyelinating polyneuropathy, consistent with CMT1A, with slowed conduction velocities in all nerves tested and prolonged sensory peak latencies in both median and ulnar nerves. Neuromuscular ultrasound revealed diffuse nerve enlargement consistent with hereditary neuropathy. However, focal enlargement of the median nerves at the carpal tunnel - 13 mm² on the right and 12 mm² on the left - yielded elevated wrist-to-forearm ratios of 1.44 and 1.75, respectively, suggestive of superimposed CTS. Ultrasound-guided corticosteroid injection served both diagnostic and therapeutic purposes, bridging the patient to appropriate definitive management with carpal tunnel release and ultimately an excellent clinical outcome.</p><p><strong>Conclusion: </strong>CTS and CMT1A share overlapping clinical and diagnostic features which complicates the recognition of a superimposed entrapment neuropathy. In patients with hereditary neuropathies, new focal symptoms should prompt consideration of superimposed compressive or entrapment neuropathies. In this case, the multimodal approach which entailed electrodiagnostics, ultrasound, and a therapeutic response to corticosteroid injection enabled accurate identification and effective treatment.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"461-469"},"PeriodicalIF":0.4,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13485293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788564","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":"Ketogenic Diet-Mediated Immunomodulation for Prevention of Epilepsia Partialis Continua in Rasmussen's Encephalitis: Review and Case Study.","authors":"Sergio Andrés Salgado Rueda, Nicolás Moreno Guerra, Jorge Luis Vargas Rojas","doi":"10.1159/000552503","DOIUrl":"https://doi.org/10.1159/000552503","url":null,"abstract":"<p><strong>Introduction: </strong>Rasmussen's encephalitis (RE) is a rare immune-mediated neurological disorder characterized by refractory focal epilepsy, progressive neurological deficits, and unilateral cerebral atrophy. Although typically a pediatric disease, adult-onset cases account for fewer than 10% of reported diagnoses and remain poorly characterized. Early recognition and prompt immunotherapy are critical to limit irreversible neurological damage.</p><p><strong>Case presentation: </strong>We report the case of a 46-year-old woman with adult-onset RE presenting with focal non-motor seizures and progressive cognitive impairment. Neuroimaging demonstrated progressive left hemispheric atrophy with hippocampal and mammillary involvement, while continuous electroencephalographic monitoring revealed persistent left frontotemporal epileptogenic activity. Cerebrospinal fluid analysis showed intrathecal antibody synthesis. Immunotherapy with oral tacrolimus was initiated, resulting in stabilization of cognitive decline and reduction of seizure frequency from approximately 30-40 to 15-20 episodes per day. Due to persistent seizures and intolerance to multiple antiseizure medications (ASMs), a classical ketogenic diet was introduced as adjunctive therapy, leading to an additional reduction in seizure frequency of approximately 50% 6 months after initiation, and subjective stabilization of cognitive symptoms despite minimal change in screening scores. Seizure control and clinical state have remained stable up to current follow-up, almost 5 years after combined treatment initiation.</p><p><strong>Conclusion: </strong>This case highlights the potential therapeutic benefit of combining immunomodulatory therapy with ketogenic dietary intervention in adult-onset RE. Beyond its established role in refractory epilepsy, ketogenic therapy may exert anti-inflammatory and neurometabolic effects through modulation of microglial activation, cytokine signaling, and cellular metabolism pathways implicated in RE pathogenesis. The combination of tacrolimus and a ketogenic diet was associated with substantial seizure reduction and stabilization of cognitive impairment in this patient with adult-onset RE. These findings suggest that ketogenic dietary therapy may represent a promising adjunctive therapeutic strategy alongside immunomodulatory treatment in this rare and challenging condition. Further studies are needed to clarify its role in disease progression and seizure control.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"470-479"},"PeriodicalIF":0.4,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13489614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788476","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":"Acute Fulminant Demyelination after the COVID-19 Vaccine: A Case Report and Review of the Literature.","authors":"Sedra Elsirawani, Abdullah Alfaifi, Salman Aljarallah","doi":"10.1159/000553416","DOIUrl":"10.1159/000553416","url":null,"abstract":"<p><strong>Introduction: </strong>COVID-19 vaccination campaigns have successfully limited the spread of the disease and reduced its severity. Neurological side effects of COVID-19 vaccines are rare. To the best of our knowledge, only a few case reports have shown an association between the COVID-19 vaccine and the development of probable acute fulminant demyelination.</p><p><strong>Case presentation: </strong>In this case report, we investigated and documented a temporal association suggesting a possible causal link between COVID-19 vaccination and acute fulminant demyelination, supported by a review of the existing literature. We describe the case of a 30-year-old female who experienced severe neurological symptoms, including memory loss, disorientation, paranoia, hallucinations, and urinary incontinence, just 3 days after receiving the Pfizer-BioNTech COVID-19 vaccine booster. Magnetic resonance imaging (MRI) revealed multiple T2 lesions with contrast enhancement consistent with demyelination. The condition rapidly progressed to somnolence, disorientation, aphasia, and quadriparesis. Treatment was initiated with pulse intravenous methylprednisolone, plasma exchange, prednisolone, natalizumab, and high-dose cyclophosphamide, resulting in disease stabilization, which was complicated by febrile neutropenia and meningitis. Fortunately, gradual improvement was observed, with MRI showing no new lesions on the follow-up imaging.</p><p><strong>Conclusion: </strong>The literature review revealed limited case reports on COVID-19 vaccine-induced central nervous system demyelination, with no consensus on its link to the Marburg variant of multiple sclerosis. This case highlights the heterogeneity of MS pathogenesis, risk factors, and challenges in managing severe clinical deterioration. Given the rare nature of Marburg MS, early detection and management of the disease lead to a better outcome and prognosis.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"498-505"},"PeriodicalIF":0.4,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13499649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788373","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":"Hypernatremia as the Initial Presentation of Osmotic Demyelination Syndrome: A Rare Case with Favorable Neurological Outcome.","authors":"Gasper Govekar, Tomaz Rus, Peter Kordis","doi":"10.1159/000552584","DOIUrl":"10.1159/000552584","url":null,"abstract":"<p><strong>Introduction: </strong>Osmotic demyelination syndrome (ODS) occurs due to rapid shifts in serum sodium levels and osmolality, resulting in neuronal damage. While it is most often caused by the rapid correction of chronic hyponatremia, other electrolyte imbalances have also been identified as potential triggers. Risk factors include alcohol abuse, malnutrition, and liver disease, among others, with common symptoms including tetraparesis, dysphagia, and altered consciousness.</p><p><strong>Case presentation: </strong>We report the case of a 45-year-old male with alcohol dependence who presented to the emergency department with hypernatremia (154 mmol/L), altered mental status, and slurred speech. Despite gradual sodium correction, his condition deteriorated, and head MRI revealed findings consistent with central pontine myelinolysis and Wernicke's encephalopathy. After 5 months of hospitalization for severe ODS, including the need for a tracheostomy and gastrostomy, extensive rehabilitation enabled the patient to regain full independence in daily activities.</p><p><strong>Conclusion: </strong>This is a rare case of ODS presenting with hypernatremia in the setting of dehydration, malnutrition, and alcohol dependence. A preceding chronic osmotic adaptation, possibly related to unrecognized hyponatremia, may have contributed, although this could not be confirmed. Early detection, aided by MRI, was critical. Despite the severity of ODS, gradual correction of hypernatremia and extensive rehabilitation led to substantial recovery, highlighting the importance of long-term management and rehabilitation in improving patient outcomes.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"448-454"},"PeriodicalIF":0.4,"publicationDate":"2026-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711524","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}