Case Reports in Neurology最新文献

{"title":"Basilar Artery Dissection Diagnosed Using Fluid-Attenuated Inversion Recovery and Managed with Stepwise Antithrombotic Therapy: A Case Report.","authors":"Monami Dai, Taro Yanagawa, Tatsuki Kimura, Shunsuke Ikeda, Shinichiro Yoshikawa, Tsuyoshi Uesugi, Toshiki Ikeda","doi":"10.1159/000550934","DOIUrl":"10.1159/000550934","url":null,"abstract":"<p><strong>Introduction: </strong>Basilar artery dissection (BAD) is a rare cause of brainstem infarction, presenting with nonspecific symptoms and subtle radiographic findings, resulting in diagnostic delays. In this case, we aimed to highlight the value of fluid-attenuated inversion recovery (FLAIR) imaging in the early detection of BAD and evaluate the safety of a stepwise conservative treatment strategy.</p><p><strong>Case presentation: </strong>We report a case of a middle-aged man with an acute brainstem infarction caused by isolated BAD. Initial magnetic resonance imaging revealed diffusion restriction in the pons and linear hyperintensity along the basilar artery on FLAIR imaging. Computed tomography angiogram revealed irregularity of the basilar artery lumen without aneurysmal dilation, which was then confirmed via digital subtraction angiography. The patient was managed conservatively with initial heparinization followed by cilostazol. Results of serial imaging showed no morphological progression, and the patient gradually improved, with only mild residual deficits.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic value of FLAIR imaging in the early detection of BAD and supports the safety and potential efficacy of a stepwise antithrombotic strategy - initial anticoagulation with heparin followed by antiplatelet therapy with cilostazol - in the absence of hemorrhagic risk.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"184-191"},"PeriodicalIF":0.4,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13095197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763482","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 Overlap of Migraine and Transient Global Amnesia: A Case Report and Literature Review on the Concept of \"Migramnesia\".","authors":"Kaveh Bahrami, Jamshid Tabeshpour, Fereydun Moradi","doi":"10.1159/000550438","DOIUrl":"10.1159/000550438","url":null,"abstract":"<p><strong>Introduction: </strong>The pathophysiological relationship between migraine and transient global amnesia (TGA) remains unclear. We present a case of TGA occurring temporally with a migraine attack and review the existing literature on this potential association, sometimes termed \"migramnesia.\"</p><p><strong>Case presentation: </strong>A 58-year-old man with a history of episodic migraine with aura experienced a severe typical migraine headache. Approximately 3 h after onset, he awoke with profound anterograde and retrograde amnesia lasting 3 h, meeting clinical criteria for TGA. He had no recollection of the amnestic episode or the preceding headache. Brain MRI was unremarkable.</p><p><strong>Conclusion: </strong>This case adds to the limited number of reports describing a temporal link between migraine and TGA events. A review of the literature reveals conflicting evidence regarding migraine as a risk factor for TGA recurrence. While our case and some studies suggest a plausible association, the evidence is inconsistent. This case highlights the need for further research, including rigorous prospective studies and analyses of potential migraine-related subgroups within TGA populations, to clarify any underlying pathophysiological connections.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"134-138"},"PeriodicalIF":0.4,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12971068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147430532","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":"Usefulness of Early Treatment with Efgartigimod in Patients with Generalized Myasthenia Gravis Complicated by Cardiovascular Disease: A Case Report.","authors":"Rie Kawakita, Kazushi Deguchi","doi":"10.1159/000550908","DOIUrl":"10.1159/000550908","url":null,"abstract":"<p><strong>Background: </strong>Generalized myasthenia gravis (gMG) is an autoimmune disease associated with several autoantibodies that attack neuromuscular junctions. Parenteral fast-acting treatment (FT) using steroid pulses, intravenous immunoglobulin (IVIg) and/or plasmapheresis is beneficial for the initial treatment of gMG. However, some patients with gMG have concomitant cardiovascular diseases, such as cardiac insufficiency and ischemic heart disease, in real-world clinical practice. Thus, conventional FT is sometimes difficult to administer in these patients because of its potential cardiovascular side effects.</p><p><strong>Case presentation: </strong>We report a case of a patient with gMG complicated by cardiovascular disease who was successfully treated with a new therapy using the neonatal Fc receptor inhibitor efgartigimod instead of conventional early FT with steroid pulses, IVIg, and/or plasmapheresis.</p><p><strong>Conclusion: </strong>Efgartigimod may represent a feasible alternative to conventional FT for the management of gMG, particularly in patients with significant cardiovascular comorbidities.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"146-153"},"PeriodicalIF":0.4,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13008404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147509917","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":"A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.","authors":"Shan Lateef, Amy Feldman Lewanda, Julia Weston, Sarah Bade, Jacklyn Lessard","doi":"10.1159/000550598","DOIUrl":"10.1159/000550598","url":null,"abstract":"<p><strong>Introduction: </strong>PIGK-related glycosylphosphatidylinositol (GPI) biosynthesis disorder is an extremely rare neurodevelopmental condition, with only 12 cases described to date. It is caused by biallelic mutations in the <i>PIGK</i> gene, which encodes a catalytic subunit of the GPI transamidase complex. This enzyme facilitates the attachment of GPI anchors to proteins crucial for cellular signaling and development. Eight of the 12 described cases were reported to have seizures, but the electroclinical characteristics are not well defined.</p><p><strong>Case presentation: </strong>We report a 15-month-old female who presented with global developmental delay, hypotonia, oral dysphagia, nystagmus, and cerebellar atrophy on MRI. Abnormal movements occurred at 10 months of age with intermittent, brief right arm tremors initially presumed to be benign myoclonus of infancy. However, subsequent 24-h video EEG revealed classic 3-Hz generalized spike-and-wave discharges with clinical correlates of behavioral arrest previously unrecognized, confirming a diagnosis of absence seizures - a feature not previously reported in the literature for PIGK-related disorders. Whole exome sequencing confirmed biallelic <i>PIGK</i> pathogenic variants. To our knowledge, this is the first reported case of typical absence seizures with 3-Hz generalized spike-and-wave discharges in a very young patient with confirmed <i>PIGK</i> mutation. Our report expands the known electroclinical phenotype of GPI-anchor deficiencies, suggesting the need to screen for subtle generalized epilepsy syndromes like absence, among affected infants.</p><p><strong>Conclusion: </strong>This case highlights a novel EEG phenotype in PIGK-related GPI biosynthesis disorder underscoring the relevance of early EEG evaluation in infants with this extremely uncommon neurogenetic disorder.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"139-145"},"PeriodicalIF":0.4,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12987671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147466908","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":"Rare Abdominal Manifestations in a Patient with Parkinson's Disease after Deep Brain Stimulation of the Subthalamic Nucleus: A Case Report.","authors":"Hiroshi Koyama, Ryoma Morigaki, Kazuhisa Miyake, Taku Matsuda, Joji Fujikawa, Keisuke Shinohara, Yoshihiko Nishida, Yasushi Takagi","doi":"10.1159/000550603","DOIUrl":"10.1159/000550603","url":null,"abstract":"<p><strong>Introduction: </strong>Abdominal pain is an occasionally observed non-motor symptom during \"off\" periods in Parkinson's disease (PD), often associated with end-of-dose wearing-off (EODWO). However, severe abdominal manifestations such as painful abdominal contraction (PAC) are rare, and their pathogenesis remains unclear. We report a unique case in which both PAC and belly dancer's dyskinesia (BDD) emerged following subthalamic nucleus deep brain stimulation (STN-DBS).</p><p><strong>Case presentation: </strong>A 74-year-old woman with PD underwent bilateral STN-DBS. Following a postoperative reduction in her levodopa dosage, she developed continuous abdominal pain with a downward-pulling sensation, which was diagnosed as PAC. Symptoms worsened in upright positions and improved supine. With an increase in STN-DBS stimulation intensity, she subsequently developed wave-like involuntary contractions of the abdominal wall muscles, consistent with BDD, while her PAC remained unchanged. STN-DBS adjustments and dopaminergic agents other than levodopa provided only partial relief, with PAC showing minimal improvement. Restoration of the preoperative levodopa dosage led to marked alleviation of PAC. Additional STN stimulation effectively managed recurrent EODWO-related pain. Four months postoperatively, motor symptoms improved significantly, with only mild peak-dose BDD remaining.</p><p><strong>Conclusion: </strong>This case illustrates that PAC may result from reduced baseline dopamine levels and may not respond to STN-DBS alone. The co-occurrence of PAC and BDD suggests a complex interplay between motor and non-motor circuits, possibly involving spinal plasticity and central pattern generators. Clinicians should consider that some cases of severe abdominal pain in PD may represent distinct non-motor phenomena that appear to respond preferentially to levodopa administration.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"128-133"},"PeriodicalIF":0.4,"publicationDate":"2026-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147347757","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":"Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report.","authors":"Otabek Pulatov, Diego Rafael Alvarez Vega, Fatima Syed, Matthew Bokhari","doi":"10.1159/000550579","DOIUrl":"10.1159/000550579","url":null,"abstract":"<p><strong>Background: </strong>Tapia's syndrome is a rare neurological condition defined by concurrent unilateral paralysis of the vagus (cranial nerve X) and hypoglossal (cranial nerve XII) nerves. It is most commonly reported as an iatrogenic complication of procedures involving airway manipulation, such as orotracheal intubation. This report describes a unique case of Tapia's syndrome with a temporal association to the initiation of noninvasive continuous positive airway pressure (CPAP) therapy.</p><p><strong>Case presentation: </strong>A 66-year-old female presented with a four-day history of acute-onset dysphonia, dysphagia, and right-sided tongue deviation. Her symptoms began shortly after initiating CPAP therapy with a full-face mask for newly diagnosed obstructive sleep apnea. She had also recently received multiple vaccinations. Clinical examination revealed right-sided vagus and hypoglossal nerve palsies, and laryngoscopy confirmed right vocal cord paralysis. Extensive diagnostic evaluation, including magnetic resonance imaging and angiography of the brain and neck, effectively excluded central nervous system pathologies such as stroke, demyelinating disease, or mass lesions and diagnosis of Tapia's syndrome was made. The patient was managed by discontinuing CPAP and administering a course of oral corticosteroids, alongside speech and swallowing therapy. She experienced a near-complete resolution of her symptoms over 6 weeks.</p><p><strong>Conclusion: </strong>This case suggests that Tapia's syndrome can be a rare complication of noninvasive airway support. A multifactorial etiology involving mechanical nerve compression from the CPAP apparatus, potentially compounded by an immune-mediated nerve sensitization from recent vaccinations, should be considered in the differential diagnosis of lower cranial neuropathies.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"105-112"},"PeriodicalIF":0.4,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12912766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146218673","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":"Coenzyme Q10 Supplementation in a Child with Biallelic <i>COQ8A</i> Variants: A Case Report.","authors":"Hirotaka Motoi, Risa Watanabe, Ayano Shirai, Yusuke Sakata, Yukiko Kuroda, Yoshihiro Watanabe, Shuichi Ito","doi":"10.1159/000550495","DOIUrl":"10.1159/000550495","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in COQ8A cause a rare form of primary coenzyme Q10 (CoQ10) deficiency that can lead to childhood-onset cerebellar ataxia and developmental delay. However, reports of pediatric cases remain limited, and evidence regarding therapeutic response to CoQ10 supplementation in children is still scarce.</p><p><strong>Case presentation: </strong>We report a 7-year-old boy with compound heterozygous COQ8A variants who presented with progressive cerebellar ataxia and intellectual disability. Oral CoQ10 supplementation was initiated at a dose of 10 mg/kg/day after institutional ethics approval. During 1 year of treatment, the Scale for the Assessment and Rating of Ataxia (SARA) score improved from 17 to 9, and serum CoQ10 concentration increased from 622 to 9.100 ng/mL. Mild cognitive improvement was also observed, with the intelligence quotient increasing from 53 to 64. Brain MRI demonstrated radiological stabilization of cerebellar atrophy. No adverse effects related to CoQ10 supplementation were observed throughout the treatment period.</p><p><strong>Conclusion: </strong>This case demonstrates the clinical benefit and safety of CoQ10 supplementation in pediatric-onset COQ8A-related ataxia. Early genetic diagnosis and timely initiation of CoQ10 therapy may lead to meaningful neurological improvement and stabilization of disease progression in affected children.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"121-127"},"PeriodicalIF":0.4,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147324795","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":"Case Report: Absent F-Waves in a Case of Spinal Ischemia - A Potential Source of Diagnostic Error.","authors":"Elisabeth T A Boudriot, Maximilian Mastall, Nathalie Nierobisch, Zsolt Kulcsar, Amrei Beuttler, Michael Weller, Hans H Jung, Matus Velicky Buecheler","doi":"10.1159/000550477","DOIUrl":"10.1159/000550477","url":null,"abstract":"<p><strong>Introduction: </strong>Rapidly progressive para- or tetraparesis and early loss of F-waves on electrodiagnostic studies usually indicate acute inflammatory demyelinating polyneuropathy. A less common alternative etiology is acute spinal cord pathology.</p><p><strong>Case presentation: </strong>We describe here a case of a 65-year-old woman with progressive motor deficits and absent F-waves early in the disease course due to anterior spinal artery syndrome. We provide serial electrodiagnostic findings with a focus on the basic electrodiagnostic parameters as well as imaging correlates during the inpatient management.</p><p><strong>Conclusion: </strong>Anterior spinal artery syndrome represents an uncommon cause of absent F-waves on the electrodiagnostic exam. Absent F-waves may precede any changes on the imaging and follow-up investigations are often warranted, as spinal cord ischemia can be a dynamic process.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"98-104"},"PeriodicalIF":0.6,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200240","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":"Transient Loss of Consciousness due to Increased Intracranial Pressure in a Patient with Lumbar Pseudomeningocele: A Case Report and Literature Review.","authors":"Dominik Zieglgänsberger, Tolga D Dittrich","doi":"10.1159/000549865","DOIUrl":"10.1159/000549865","url":null,"abstract":"<p><strong>Introduction: </strong>Transient loss of consciousness (TLOC) refers to the sudden, temporary disturbance of consciousness followed by spontaneous recovery. Little is known about acute changes in intracranial pressure (ICP) as a possible cause of TLOC.</p><p><strong>Case presentation: </strong>We present the case of a 78-year-old man with recurrent episodes of TLOC due to raised ICP triggered by mechanical compression of a large postoperative lumbar pseudomeningocele. The video-electroencephalogram (EEG) showed sudden flattening distinctly different from EEG changes seen in cardiovascular TLOC.</p><p><strong>Conclusion: </strong>Our EEG observations suggest that a sudden increase in ICP should be considered as a potential cause of TLOC, particularly after spinal surgery.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"83-91"},"PeriodicalIF":0.6,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12885526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146156250","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":"A Rare Case of Secondary Pseudotumor Cerebri Syndrome in a Female with a Tongue Base Tumor: A Case Report.","authors":"Sophie Bryde Laursen, Marianne Wegener, Emil Andonov Smilkov, Faezeh Nemati Karimooy, Rigmor Højland Jensen, Nadja Skadkær Hansen","doi":"10.1159/000549878","DOIUrl":"10.1159/000549878","url":null,"abstract":"<p><strong>Introduction: </strong>The pseudotumor cerebri syndrome (PTCS) is characterized by elevated intracranial pressure in the absence of intracranial structural lesions, with normal cerebrospinal fluid. PTCS may be primary, also known as idiopathic intracranial hypertension (IIH), or secondary to an identifiable cause such as obstructive sleep apnea (OSA). Primary and secondary PTCS share similar clinical features.</p><p><strong>Case presentation: </strong>We report the case of a 43-year-old female of normal weight initially suspected of IIH, who was subsequently diagnosed with secondary PTCS caused by a tongue base tumor, leading to OSA. She presented with symptoms consistent with PTCS, including headache, transient visual obscurations, and progressive visual decline. Fundoscopy revealed severe bilateral papilledema, and lumbar puncture showed an opening pressure of 43 cm H₂O. Despite treatment with acetazolamide, her vision worsened, and optic nerve sheath fenestration was performed. Further investigation identified OSA caused by a benign tumor of the tongue as the underlying etiology. Following continuous positive airway pressure therapy her headache and papilledema resolved.</p><p><strong>Conclusion: </strong>The case illustrates the importance of thorough search for secondary causes in patients diagnosed with PTCS.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"113-120"},"PeriodicalIF":0.4,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12923255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147269604","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}