Case Reports in Neurology最新文献

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Rare Abdominal Manifestations in a Patient with Parkinson's Disease after Deep Brain Stimulation of the Subthalamic Nucleus: A Case Report. 帕金森病患者丘脑下核深部脑刺激后的罕见腹部表现1例。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-23 eCollection Date: 2026-01-01 DOI: 10.1159/000550603
Hiroshi Koyama, Ryoma Morigaki, Kazuhisa Miyake, Taku Matsuda, Joji Fujikawa, Keisuke Shinohara, Yoshihiko Nishida, Yasushi Takagi
{"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":"https://doi.org/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":0.6,"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}
引用次数: 0
Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report. 无创持续气道正压治疗后Tapia综合征1例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-19 eCollection Date: 2026-01-01 DOI: 10.1159/000550579
Otabek Pulatov, Diego Rafael Alvarez Vega, Fatima Syed, Matthew Bokhari
{"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":"https://doi.org/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":0.6,"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}
引用次数: 0
Coenzyme Q10 Supplementation in a Child with Biallelic COQ8A Variants: A Case Report. 辅酶Q10补充在儿童双等位基因辅酶q8a变异:一个病例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-16 eCollection Date: 2026-01-01 DOI: 10.1159/000550495
Hirotaka Motoi, Risa Watanabe, Ayano Shirai, Yusuke Sakata, Yukiko Kuroda, Yoshihiro Watanabe, Shuichi Ito
{"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":"https://doi.org/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":0.6,"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}
引用次数: 0
Case Report: Absent F-Waves in a Case of Spinal Ischemia - A Potential Source of Diagnostic Error. 病例报告:脊髓缺血病例无f波-诊断错误的潜在来源。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-15 eCollection Date: 2026-01-01 DOI: 10.1159/000550477
Elisabeth T A Boudriot, Maximilian Mastall, Nathalie Nierobisch, Zsolt Kulcsar, Amrei Beuttler, Michael Weller, Hans H Jung, Matus Velicky Buecheler
{"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}
引用次数: 0
Transient Loss of Consciousness due to Increased Intracranial Pressure in a Patient with Lumbar Pseudomeningocele: A Case Report and Literature Review. 腰椎假性脑膜膨出患者因颅内压增高导致短暂性意识丧失:1例报告及文献回顾。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-15 eCollection Date: 2026-01-01 DOI: 10.1159/000549865
Dominik Zieglgänsberger, Tolga D Dittrich
{"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}
引用次数: 0
A Rare Case of Secondary Pseudotumor Cerebri Syndrome in a Female with a Tongue Base Tumor: A Case Report. 女性舌底肿瘤继发性脑假瘤综合征1例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-09 eCollection Date: 2026-01-01 DOI: 10.1159/000549878
Sophie Bryde Laursen, Marianne Wegener, Emil Andonov Smilkov, Faezeh Nemati Karimooy, Rigmor Højland Jensen, Nadja Skadkær Hansen
{"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":"https://doi.org/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 H<sub>2</sub>O. 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":0.6,"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}
引用次数: 0
Psychogenic Nonepileptic Seizures in a Woman of Reproductive Age: The Role of Gender-Specific Stressors. 育龄妇女的心因性非癫痫性发作:性别特异性应激源的作用。
IF 0.6
Case Reports in Neurology Pub Date : 2026-01-09 eCollection Date: 2026-01-01 DOI: 10.1159/000550375
Antonio Parralo-López, Ángel-Tomás Parra-Martínez, Cristina Romero-Oliva, Cecilio Parra-Martínez, Concha Martínez-García
{"title":"Psychogenic Nonepileptic Seizures in a Woman of Reproductive Age: The Role of Gender-Specific Stressors.","authors":"Antonio Parralo-López, Ángel-Tomás Parra-Martínez, Cristina Romero-Oliva, Cecilio Parra-Martínez, Concha Martínez-García","doi":"10.1159/000550375","DOIUrl":"10.1159/000550375","url":null,"abstract":"<p><strong>Introduction: </strong>Psychogenic nonepileptic seizures (PNES) are episodes resembling epileptic seizures but not caused by abnormal electrical brain activity. They are part of functional neurological disorders, which disproportionately affect women and are often triggered by a combination of biological, psychological, and social factors. Early recognition is crucial to prevent unnecessary interventions.</p><p><strong>Case presentation: </strong>We report a 35-year-old woman with a 3-year history of recurrent loss of consciousness, occurring approximately every 15 days, usually coinciding with ovulation and menstruation. Previous cardiology and gynecology evaluations, imaging, blood tests, and EEG were unremarkable. During the most severe episodes, she required intensive care unit admission, intubation, and sedation. A video-EEG with verbal suggestion reproduced a typical event, showing no epileptiform activity. The patient was diagnosed with PNES. Psychotherapy was initiated, and antiepileptic drugs were gradually withdrawn. This, along with patient education, family involvement, and outpatient follow-up, led to a marked reduction in episode frequency.</p><p><strong>Conclusion: </strong>This case highlights the complex interplay between hormonal fluctuations, reproductive concerns, psychosocial stressors, and gender-specific factors in triggering PNES. Early diagnosis, a multidisciplinary approach, and education of patients and healthcare providers are key to improving outcomes and avoiding unnecessary interventions. To our knowledge, this is the first report describing PNES episodes linked to both menstrual cycle-related stress and reproductive concerns, emphasizing the importance of a gender-sensitive approach.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"92-97"},"PeriodicalIF":0.6,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12890294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146164334","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}
引用次数: 0
Longitudinally Extensive Transverse Myelitis and Vasculitis by Cryptococcosis in a Non-HIV Patient: A Case Report. 非hiv患者隐球菌引起的纵向广泛横贯脊髓炎和血管炎1例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2025-12-22 eCollection Date: 2026-01-01 DOI: 10.1159/000549330
Michael Ariza-Varon, Nicolas Soto-Moreno, Nicole Pinzon, Natalia Camacho, Juan D Vallejo Fernández
{"title":"Longitudinally Extensive Transverse Myelitis and Vasculitis by Cryptococcosis in a Non-HIV Patient: A Case Report.","authors":"Michael Ariza-Varon, Nicolas Soto-Moreno, Nicole Pinzon, Natalia Camacho, Juan D Vallejo Fernández","doi":"10.1159/000549330","DOIUrl":"10.1159/000549330","url":null,"abstract":"<p><strong>Introduction: </strong>Cryptococcosis is a fungal infection with frequent involvement of the central nervous system, particularly in patients immunocompromised by the human immunodeficiency virus (HIV). Its essential neurological presentation is meningoencephalitis, with exceptional spinal cord involvement. We present the case of an immunocompetent patient with myelitis and vasculitis caused by <i>Cryptococcus</i>.</p><p><strong>Clinical case: </strong>A 59-year-old male patient with diabetes mellitus presented with 2 weeks of lower limb weakness, vertigo, and urinary retention with subsequent loss of alertness. Magnetic resonance imaging confirmed a longitudinally extensive transverse myelitis, venous sinus thrombosis, and multiple cerebral infarcts involving the cerebellum, basal ganglia, and corpus callosum. Cerebrospinal fluid confirmed <i>Cryptococcus</i> fungal infection. Differential diagnoses (infectious, autoimmune, metabolic, demyelinating, and neoplastic) were excluded. Liposomal amphotericin and flucytosine treatment were started for 6 weeks, with partial improvement. Late primary immunodeficiency was diagnosed based on a low CD4+ count, excluding HIV in multiple instances. The patient continues with motor and sensory sequelae and hypoacusis.</p><p><strong>Discussion: </strong>Myelitis of infectious origin is predominantly viral and bacterial. Spinal cord involvement by <i>Cryptococcus</i> is extremely unusual, and the literature is limited to case reports. This condition shows high heterogeneity in its presentation, being predominant in patients with immunocompetence. It can be associated with cryptococcomas and transverse or longitudinally extensive myelitis involving any spinal cord segment. The treatment duration and use of corticosteroids are still debatable. Few similar cases have been reported.</p><p><strong>Conclusion: </strong><i>Cryptococcus</i> fungal infection should be included in the differential diagnosis of infectious myelopathies, even in patients without HIV infection.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"53-61"},"PeriodicalIF":0.6,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12818901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146017456","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}
引用次数: 0
A Case of Severe Cerebral Amyloid Angiopathy-Related Inflammation in a 81-Year-Old Woman with Rapid Cognitive Decline. 严重脑淀粉样血管病相关炎症一例81岁女性认知能力迅速下降。
IF 0.6
Case Reports in Neurology Pub Date : 2025-12-16 eCollection Date: 2026-01-01 DOI: 10.1159/000550075
Eline De la Meilleure, Harald De Cauwer, Dieter Vanneste, Caroline M J Loos
{"title":"A Case of Severe Cerebral Amyloid Angiopathy-Related Inflammation in a 81-Year-Old Woman with Rapid Cognitive Decline.","authors":"Eline De la Meilleure, Harald De Cauwer, Dieter Vanneste, Caroline M J Loos","doi":"10.1159/000550075","DOIUrl":"10.1159/000550075","url":null,"abstract":"<p><strong>Introduction: </strong>Cerebral amyloid angiopathy (CAA) is a vasculopathy characterized by amyloid-beta (Aβ) deposition in the walls of the leptomeningeal and cortical blood vessels. In a minority of patients with CAA, the presence of Aβ deposition triggers an autoimmune inflammatory reaction, referred to as CAA-related inflammation (CAA-ri). It can present in two forms, either as perivascular CAA-ri or as Aβ-related angiitis. The mechanism underlying CAA-ri remains unclear. Symptoms are subacute mental disorders and behavioral or cognitive changes, headaches, seizures, and focal neurological deficits. Most commonly, CAA-ri is a monophasic illness. Relapses occur often years after the initial presentation and are correlated with corticosteroid tapering or immunosuppression cessation. Treatment is often prolonged but effective. We present a rare and instructive case with CAA-ri characterized by rapid cognitive decline, therapy resistance, and fatal outcome and discuss current literature.</p><p><strong>Case presentation: </strong>We describe a case of an 81-year-old female who presented with progressive confusion, behavior alterations, recurrent falls, and vomiting for 2 weeks. There was a rapid cognitive decline and fatal outcome. The diagnosis of a probable CAA-ri was made based on the clinical presentation and brain MR imaging. To allow long-term corticosteroid replacement, azathioprine was initiated for second-line immunosuppression.</p><p><strong>Conclusion: </strong>This case report of CAA-ri describes the diagnostic and therapeutic challenges in an elderly patient with rapid cognitive decline. It highlights the severe nature of the condition, the limitations of available treatments, and the importance of early recognition based on the diagnostic criteria and MR imaging and the start of the therapy, while acknowledging that outcomes may remain poor despite intervention.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"76-82"},"PeriodicalIF":0.6,"publicationDate":"2025-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12830004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146046183","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}
引用次数: 0
Epilepsy Surgery in Drug-Resistant Epilepsy Facilitated by Artificial Intelligence: A Case of Left Temporal Encephalocele. 人工智能辅助下的耐药癫痫手术一例左颞叶脑膨出。
IF 0.6
Case Reports in Neurology Pub Date : 2025-12-12 eCollection Date: 2026-01-01 DOI: 10.1159/000550076
Mason Henry Crossman, Jasmin Chau Minh Le, Alexander William Wright, Toby Gilbert, John Maddison, Stephen Bacchi
{"title":"Epilepsy Surgery in Drug-Resistant Epilepsy Facilitated by Artificial Intelligence: A Case of Left Temporal Encephalocele.","authors":"Mason Henry Crossman, Jasmin Chau Minh Le, Alexander William Wright, Toby Gilbert, John Maddison, Stephen Bacchi","doi":"10.1159/000550076","DOIUrl":"10.1159/000550076","url":null,"abstract":"<p><strong>Introduction: </strong>Epilepsy surgery remains underutilized despite strong evidence supporting its efficacy for appropriately selected patients with drug-resistant epilepsy (DRE).</p><p><strong>Case presentation: </strong>We describe the case of a 23-year-old woman with a 4-year history of refractory focal impaired awareness seizures, experiencing up to four episodes per week despite multiple trialed antiseizure medications at tolerated doses. Initial investigations including magnetic resonance imaging (MRI), EEG, and paraneoplastic screening were unremarkable, and she was managed as having non-lesional left temporal lobe epilepsy. As part of an artificial intelligence driven research initiative, a natural language processing based random forest algorithm reviewing neurology clinic documentation identified her as a potential surgical candidate. Complementary large language model analysis supported extraction of relevant seizure and imaging information. This prompted re-evaluation of the case, with PET demonstrating left temporal hypometabolism and repeat MRI revealing a previously unrecognized encephalocele. She subsequently underwent left temporal lobe polectomy with encephalocele disconnection. The procedure was successful, and she has remained seizure-free for 1 year postoperatively, allowing initiation of ASM weaning and the possibility of long-term cure.</p><p><strong>Conclusion: </strong>This case illustrates the transformative potential of epilepsy surgery for individuals with DRE and the promising role of artificial intelligence augmented triage systems in reducing delays to surgical referral. Given the morbidity, mortality, and economic burden associated with DRE, timely surgical evaluation should be considered the standard of care for eligible patients. Integrating artificial intelligence tools into clinical workflows may help overcome longstanding barriers to access and ensure that life-changing interventions are offered earlier in the disease course.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"18 1","pages":"69-75"},"PeriodicalIF":0.6,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12818897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146017442","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}
引用次数: 0
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