Case Reports in Neurology最新文献

{"title":"Trigeminal Neuralgia as a Rare Complication of Idiopathic Intracranial Hypertension.","authors":"Mariana Sarov-Riviere, Claire Ancelet, Ghaidaa Nasser, Jildaz Caroff, Nozar Aghakhani, Christian Denier","doi":"10.1159/000544077","DOIUrl":"https://doi.org/10.1159/000544077","url":null,"abstract":"<p><strong>Introduction: </strong>Idiopathic intracranial hypertension (IIH) is a rare cause of chronic headaches. Usually, patients with IIH present headaches and papilledema with no focal neurological signs. Classical MRI findings feature characteristic signs, i.e., dilated perioptic nerves sheath and empty sella turcica. Rarely, cranial nerve palsies existed, especially abducens nerve palsy.</p><p><strong>Case presentation: </strong>We reported herein another rare clinical feature of IIH: trigeminal neuralgia in association with meningocele. This 35-year-old obese woman initially presented with chronic headaches and papilledema. Cerebral MRI showed classical IIH findings. The CSF opening pressure was increased. A treatment coupling acetazolamide and iterative lumbar punctures led to the regression of papilledema, but headaches were difficult to control. Ten years later, while she was lost to follow up and treated with acetazolamide by her <i>general practitioner</i>, she developed extremely painful neuropathic pain in the left trigeminal nerve territory, in association with a recurrence of the chronic headaches. A new MRI showed new bilateral cavum trigeminal meningoceles, predominantly on the left side, associated with an atrophy of the cisternal segment of the left trigeminal nerve. Angio-CT showed transverse sinus stenosis, treated by stenting. After this treatment, IIH symptoms disappeared, while trigeminal neuralgia amplified: a surgical procedure led to its complete disappearance.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first case reported of trigeminal neuralgia associated with meningocele formation in IIH. Our case illustrates the great efficacy of venous stenting in IIH, and one may wonder whether earlier stenting could have avoided the subsequent development of meningoceles and subsequent neuralgia.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"57-61"},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12068838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977715","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":"Seronegative Autoimmune Encephalomyelitis with Area Postrema Symptoms.","authors":"David Andrew Prentice, Ravi Ambati, Lay K Kho, Thomas Jenkins, Paul M Parizel","doi":"10.1159/000545402","DOIUrl":"https://doi.org/10.1159/000545402","url":null,"abstract":"<p><strong>Introduction: </strong>Patients presenting with encephalopathy and longitudinally extensive myelitis pose a significant diagnostic challenge. Area postrema-related symptoms, such as intractable hiccoughs, can aid in narrowing the differential diagnosis. Neuromyelitis optica spectrum disorders and glial fibrillary acidic protein (GFAP) autoimmune encephalitis are known causes; however, some cases remain seronegative, suggesting the presence of unidentified autoantibodies or immune targets.</p><p><strong>Case presentation: </strong>A previously healthy man in his 70s presented with headache, fever, and confusion, followed by a seizure and persistent hiccoughs. MRI revealed brainstem involvement and extensive transverse myelitis. Cerebrospinal fluid (CSF) analysis showed inflammatory features, but testing for AQP4, MOG, and GFAP antibodies was initially negative. He was treated with intravenous corticosteroids and plasma exchange, after which serum GFAP-IgG was weakly positive, though CSF remained negative. His condition improved with immunotherapy, but significant lower limb weakness persisted. Based on clinical and radiological findings, we hypothesize that tanycytes - specialized glial cells in the area postrema - may be an additional immune target in GFAP encephalitis.</p><p><strong>Conclusion: </strong>This case highlights a seronegative encephalomyelitis syndrome with area postrema involvement, possibly implicating glial cells beyond astrocytes. Further studies are needed to explore the role of tanycytes in autoimmune neuroinflammation.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"50-56"},"PeriodicalIF":0.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12058113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062466","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":"Severe Late-Onset Neutropenia in a Pregnant Patient with Multiple Sclerosis after Ocrelizumab.","authors":"Casey J Fealko, Morgan N Rolon-Newton, Marisa J L Aitken, Scott D Gitlin","doi":"10.1159/000544749","DOIUrl":"https://doi.org/10.1159/000544749","url":null,"abstract":"<p><strong>Introduction: </strong>Ocrelizumab is a recombinant humanized anti-CD20 monoclonal antibody used to treat multiple sclerosis. Late-onset neutropenia, absolute neutrophil count <1.5 × 10⁹/L that develops >4 weeks after last drug administration, is a known adverse event associated with anti-CD20 monoclonal antibodies, including rituximab and ocrelizumab.</p><p><strong>Case presentation: </strong>We present the case of a 27-year-old woman who developed severe late-onset neutropenia during her third trimester of pregnancy after treatment with ocrelizumab 6 months prior.</p><p><strong>Conclusion: </strong>Neurologists should be aware of this risk and consider additional hematologic monitoring for pregnant patients who received anti-CD20 therapy as therapies such as G-CSF are available to help prevent serious infections.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"36-40"},"PeriodicalIF":0.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12028974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965070","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 Progressive Ataxia in a 66-Year-Old Woman with Longstanding Parkinson's Disease: A Case Report.","authors":"Lukas Gattermeyer-Kell, Petra Katschnig-Winter, Mariella Kögl, Petra Schwingenschuh","doi":"10.1159/000545411","DOIUrl":"https://doi.org/10.1159/000545411","url":null,"abstract":"<p><strong>Introduction: </strong>Parkinson's disease (PD) is a common neurodegenerative disorder, and its diagnosis remains a clinical one. Hence, the emergence of new symptoms warrants consideration of a new diagnostic work-up even at later disease stages. Important differential diagnoses include atypical or symptomatic parkinsonism, like multiple system atrophy, normal pressure hydrocephalus, or rarely, superficial siderosis (SS).</p><p><strong>Case presentation: </strong>A 66-year-old woman with longstanding PD presented to our clinic with a 4-year history of progressive ataxia and gait impairment. The emergence of a new symptom (ataxia) prompted us to conduct a new, broad diagnostic work-up. Clinical examination revealed both parkinsonian (hypomimia, dyskinesias, right dominant bradykinesia and rigidity, intermittent resting tremor) and cerebellar signs (scanning dysarthria, gaze-evoked nystagmus, severe ataxia of extremities and gait). No signs or symptoms of autonomic dysfunction were present. Magnetic resonance imaging of brain and spine showed extensive hemosiderin depositions and ventral intraspinal fluid collection, establishing a diagnosis of SS. No apparent dural leak was detected in cerebrospinal fluid scintigraphy. The patient was treated with epidural blood patch.</p><p><strong>Conclusion: </strong>The occurrence of new symptoms in PD, especially \"red flags\" or exclusion criteria, calls for a repeated diagnostic work-up to exclude potentially treatable causes of parkinsonism. While SS has been reported as a cause of symptomatic parkinsonism, we favor a diagnosis of idiopathic PD and comorbid SS in this case. This case report highlights the clinical importance of diagnostic criteria in differentiating PD from atypical parkinsonian disorders or symptomatic parkinsonism as well as signs and symptoms, pathophysiological aspects, and treatment of SS.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"41-49"},"PeriodicalIF":0.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12040301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954855","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 Form of Reflex Epilepsy: Eating Epilepsy - A Case Report.","authors":"Cem Direybatoğulları, Mehmet Fevzi Öztekin","doi":"10.1159/000545067","DOIUrl":"10.1159/000545067","url":null,"abstract":"<p><strong>Introduction: </strong>Reflex epilepsies are rare syndromes where seizures are triggered by particular stimuli or activities that may be motor, sensory, or cognitive in nature. Eating-induced seizures are an uncommon presentation of reflex epilepsy. Many etiologies, including genetics, ethnicity, and specific foods and eating behaviors, are linked to eating epilepsy.</p><p><strong>Case presentation: </strong>In this case report, a 55-year-old man who was admitted to the neurology clinic with epileptic seizures that occurred many times after spicy meals is presented. His neurological examination and metabolic values were normal. MRI showed nonspecific white matter changes. An interictal active epileptic focus was detected in the left temporal region in interictal EEG. The patient was started on valproic acid treatment at 1,000 mg/day. Anti-seizure treatment controlled the seizures and normalized the EEG abnormalities.</p><p><strong>Conclusion: </strong>In this case report, it is emphasized that eating epilepsy should be considered in patients with a history of seizures induced with eating, and the diagnosis and treatment process of eating epilepsy is also mentioned.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"31-35"},"PeriodicalIF":0.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11975335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802546","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":"Safety and Effectiveness of Eculizumab throughout Three Pregnancies in a Patient with Refractory Generalized Myasthenia Gravis: A Case Report.","authors":"Nadia Khalil, Claudia Guerra Hernandez, Jerrica Farias, Kathleen Murray, Niraja Suresh, Clifton Gooch, Tuan H Vu","doi":"10.1159/000543216","DOIUrl":"10.1159/000543216","url":null,"abstract":"<p><p>We describe maternal and fetal outcomes in a patient who had three successful pregnancies while being treated with eculizumab for AChR+ gMG. This is a follow-up to our previously published report describing outcomes with this C5 complement inhibitor during the patient's first pregnancy. Eculizumab conferred adequate gMG disease control during these pregnancies, although there were instances of increased gMG symptoms during the first trimester and postpartum period without requirement for rescue therapy. The patient experienced disseminated gonococcal infection once during her second pregnancy, a serious adverse event that was likely related to complement inhibition by eculizumab. The patient additionally experienced two nonserious and treatment responsive yeast infections. There were no negative outcomes reported with any of the pregnancies in fetal, neonatal, or infantile periods. In the context of the existing literature, this report provides additional insight on potential outcomes with use of eculizumab in patients with gMG. While the report suggests favorable effectiveness and fetal outcomes, it also highlights potential for adverse events, namely, maternal infections. Additional reports on clinical outcomes in pregnancy in patients with gMG are needed to guide risk-benefit stratification for eculizumab.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"25-30"},"PeriodicalIF":0.6,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11805545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467183","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":"Beyond the Limit: Salvaging the Posterior Circulation Territory via Late Endovascular Thrombectomy.","authors":"Ryan Aliñab, Jo Ann Soliven, Victor Erwin Jocson, Gemmalynn Sarapuddin","doi":"10.1159/000543218","DOIUrl":"10.1159/000543218","url":null,"abstract":"<p><strong>Introduction: </strong>Posterior circulation infarctions, particularly basilar artery occlusions, contribute significantly to morbidity and mortality in ischemic stroke. However, literature supporting mechanical thrombectomy in the posterior circulation, especially beyond the 24-h window, is limited.</p><p><strong>Case presentation: </strong>We present the case of a 64-year-old male diagnosed with basilar artery occlusion who underwent a successful mechanical thrombectomy 11 days after symptom onset. Despite complications such as hemorrhagic transformation and herniation, the patient was stabilized and showed functional improvement 3 months post-stroke.</p><p><strong>Conclusion: </strong>This case suggests that delayed thrombectomy may provide benefits for selected patients, even beyond the recommended 24-h window. Further research is essential to refine treatment strategies and potentially extend the intervention window for posterior circulation strokes.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"16-24"},"PeriodicalIF":0.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254693","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":"Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Report.","authors":"Jonathan Tse, Asem Abu-Qamar, Omar Youssef, Sherry L Pejka","doi":"10.1159/000542886","DOIUrl":"10.1159/000542886","url":null,"abstract":"<p><strong>Introduction: </strong>Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder characterized by diverse and variable phenotypic features, which can make diagnosis challenging. However, prompt treatment with thiamine and biotin can effectively manage the condition. Diagnosis relies on the identification of biallelic pathogenic variants in the <i>SLC19A3</i> gene. This case report describes two novel variants of uncertain significance in the <i>SLC19A3</i> gene, which may be correlated with the phenotypic manifestations of BTBGD.</p><p><strong>Case presentation: </strong>Our case is a 7-month-old female infant who presented with a 3-week history of irritability, altered behavior, and refusal of newly introduced solid foods. Symptoms started with an upper respiratory tract infection, followed by lethargy, floppiness, and abnormal movements. The patient was admitted to the pediatric ward with a broad differential diagnosis. Extensive laboratory evaluations revealed lactic acidosis. MRI brain showed symmetric restricted diffusion affecting the bilateral basal ganglia, thalami, and cortical regions. Whole genome sequencing identified biallelic variants of the SLC19A3: a c.1364T>G p.Met455Arg missense variant in the maternal allele and a 2.3 kb deletion of intron 3 of the paternal allele. Both variants were identified as variants of uncertain significance. However, given the clinical picture, MRI brain findings, resolution of symptoms with empiric biotin and thiamine supplementation, and biallelic SLC19A3 variants of unknown significance, the patient most likely suffers from BTBGD. Patient continues to show sustained developmental progress on biotin and thiamine supplementation.</p><p><strong>Conclusion: </strong>This case highlights the fact that genetic testing remains a vital but improvable tool for the diagnosis of BTBGD. As of yet, genetic testing and diagnosis of BTBGD continues to be limited by the knowledge of which SLC19A3 variants are established to be pathogenic variants. Thus, further research is required to study other SCL19A3 variants of unknown significance to further improve genetic testing and diagnosis of BTBGD in the future.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"17 1","pages":"1-8"},"PeriodicalIF":0.6,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467178","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":"COVID-19-Related Spinal Subdural Hematoma Presented with Acute Compressive Myelopathy with a Review of the Literature.","authors":"Hasanain A Al-Khalidi, Hayder K Hassoun, Zahra Aljid, Zuhair Allebban","doi":"10.1159/000528310","DOIUrl":"https://doi.org/10.1159/000528310","url":null,"abstract":"<p><strong>Introduction: </strong>Neurological complication due to coronavirus disease 2019 (COVID-19) is accumulating and compressive myelopathy due to spinal subdural hematoma (SSDH) is rarely reported in association with COVID-19.</p><p><strong>Case presentation: </strong>A 55-year-old male was presented with sudden onset of areflexic paraparesis, urinary retention, loss of all sensations below twelve spinal thoracic segments, and severe back pain. This condition necessitated an immediate order of a spinal cord MRI followed by an urgent surgery, which was crucial to save the spinal cord. COVID-19 was confirmed by a positive reverse-transcription-polymerase chain reaction and spinal MRI showed SSDH.</p><p><strong>Conclusion: </strong>For a patient who presents with acute onset of severe back pain and myelopathy without a history of trauma, SSDH should be suspected. Additionally, coagulopathy associated with COVID-19 infection should increase the suspicion of SSDH which needs immediate surgical treatment to save the spinal cord.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"16 1","pages":"294-303"},"PeriodicalIF":0.6,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142766538","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":"Diabetic Striatopathy (Hyperglycemic Hemichorea-Hemiballismus Syndrome) in a Young Patient with Type 1 Diabetes Mellitus in Dar es Salaam, Tanzania: A Case Report.","authors":"Basil Tumaini, Thom Pius, Mahmoud Abeid, Lazaro Lewale, Kigocha Okeng'o, Ewaldo Komba, Muhammad Bakari","doi":"10.1159/000542452","DOIUrl":"10.1159/000542452","url":null,"abstract":"<p><strong>Introduction: </strong>Diabetic striatopathy, or nonketotic hyperglycemic hemichorea-hemiballismus syndrome, is a rare movement disorder linked to poorly controlled diabetes mellitus. It predominantly affects older women with type 2 diabetes mellitus and presents with characteristic basal ganglia abnormalities on computed tomography (CT) and magnetic resonance imaging (MRI). Even rarer is the presentation in a young patient, which may pose diagnostic and management challenges.</p><p><strong>Case presentation: </strong>We report a 17-year-old male with poorly controlled type 1 diabetes mellitus presenting with left-sided hemichorea-hemiballismus of acute onset associated with hyperglycemia without ketoacidosis. Brain imaging revealed increased attenuation in the right caudate and putamen on CT and hyperintensity on T1-weighted MRI, consistent with diabetic striatopathy. The abnormal movements abated after 1 month through dietary counseling, increased insulin dosage, and anti-chorea therapy.</p><p><strong>Conclusion: </strong>Diabetic striatopathy may occur in young patients with type 1 diabetes mellitus. In resource-limited settings, its management can be challenging. There is a need for increased awareness among physicians of this potentially reversible condition, especially when seeing atypical patient populations. Strict glycemic control is an essential part of treatment.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"16 1","pages":"304-309"},"PeriodicalIF":0.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11644093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467176","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}