Neuroimmunology Reports最新文献

{"title":"Longitudinally extensive transverse myelitis: Etiologies and common diagnostic pitfalls","authors":"Samar Antoine Abbas ,&nbsp;Jad Costa ,&nbsp;Joelle Saba ,&nbsp;Christian Matta ,&nbsp;Halim Abboud","doi":"10.1016/j.nerep.2025.100255","DOIUrl":"10.1016/j.nerep.2025.100255","url":null,"abstract":"<div><h3>Objectives</h3><div>report the different etiologies of Longitudinally Extensive Transverse Myelitis (LETM), along with their key characteristics.</div></div><div><h3>Methods</h3><div>A retrospective study was conducted at Hotel-Dieu de France University Hospital, Beirut, Lebanon. We collected demographic, clinical, radiologic and biochemical data of patients admitted for LETM between January 2021 and September 2024. Patients with compressive myelopathy or missing data were excluded. LETM characteristics were described in the whole sample, as well as in patients with inflammatory myelitis and those with spinal dural arteriovenous fistula (SDAVF).</div></div><div><h3>Results</h3><div>32 patients were selected, of whom 12 patients were excluded. The most common cause of LETM was SDAVF (25%), followed by MOG antibody-associated disease, multiple sclerosis, idiopathic transverse myelitis, neurosarcoidosis and infectious myelitis (10% each). There was only one case of Neuromyelitis Optica Spectrum Disorder (NMOSD). Other causes included MOG-negative acute disseminated encephalomyelitis, paraneoplastic myelitis, spinal cord neoplasm and subacute combined degeneration of spinal cord (5% each). In total, there were 13 cases of inflammatory myelitis (65%). Patients with SDAVF were predominantly males (80%) and relatively older than those with inflammatory myelitis. Different MRI patterns were described: all inflammatory LETM involved cervical and/or thoracic cord, 69% were partial and enhanced on postcontrast sequences. Vascular myelopathy affected thoracolumbar region in 80% of cases. Perimedullary flow voids were common (80%) but inconsistent.</div></div><div><h3>Conclusions</h3><div>Neurologist should think beyond NMOSD in case of LETM. The presence of thoracolumbar LETM with or without perimedullary flow voids requires MR angiography, before diagnostic lumbar puncture or empirical steroid therapy.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100255"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143738719","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":"Erratum to “Transverse myelitis 48 hours after the administration of an mRNA COVID 19 vaccine” [Neuroimmunology Reports Volume 1, December 2021, 100019]","authors":"Patrick McLean,&nbsp;Lori Trefts","doi":"10.1016/j.nerep.2024.100240","DOIUrl":"10.1016/j.nerep.2024.100240","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100240"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171973","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":"Erratum to “Psychiatric manifestations of anti-MOG antibody disease” [Neuroimmunology Reports Volume 2, 2022, 100073]","authors":"Baljinder Singh,&nbsp;Salvador Cruz-Flores,&nbsp;Mohammad R Chaudhry,&nbsp;Paisith Piriyawat,&nbsp;Claudia Prospero Ponce","doi":"10.1016/j.nerep.2024.100241","DOIUrl":"10.1016/j.nerep.2024.100241","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100241"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104685","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":"Linker for activation of T cells (LAT) mutation leading to CNS neuroimmunological disorder with treatment response to abatacept","authors":"Ladan Bigdeli ,&nbsp;Jesus R Salas ,&nbsp;Aaren E. Kettelhut ,&nbsp;Mohammad Shujaat ,&nbsp;Cole A Harrington","doi":"10.1016/j.nerep.2025.100251","DOIUrl":"10.1016/j.nerep.2025.100251","url":null,"abstract":"<div><h3>Background</h3><div>Linker for activation of T cells (LAT) is a scaffolding protein that couples T-cell receptors (TCRs) to downstream signaling pathways and plays a critical role in TCR-mediated signaling and thymocyte development. LAT loss-of-function mutations have been reported in severe combined immunodeficiencies (SCID). Mutations in the <em>LAT</em> gene resulting in central nervous system (CNS) disorders have not previously been reported.</div></div><div><h3>Case presentation</h3><div>We report a case of a unique and recurrent neuroinflammatory disorder in a patient with a LAT gene mutation and a prior history of immune deficiency and autoimmunity.</div></div><div><h3>Case report</h3><div>Patient with <em>LAT</em> heterozygous missense mutation presented with a CNS demyelinating inflammatory disorder with similar clinical, pathological and radiographic features to patients with heterozygous mutations in immune checkpoint inhibitor cytotoxic T-lymphocyte associated protein 4 (<em>CTLA4</em>). CNS inflammatory disorder improved with treatment with CTLA4-IgG₁ fusion protein abatacept. This is the first reported case of CNS inflammation associated with a <em>LAT</em> gene mutation.</div></div><div><h3>Conclusions</h3><div><em>LAT</em> and <em>CTLA4</em> mutations appear to result in overlapping phenotypes and patients with mutations in <em>LAT</em> or proteins involved in LAT signaling may exhibit similar presentations and responses to immune checkpoint inhibitors.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100251"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143350464","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":"Erratum to “Post-COVID-19 acute disseminated encephalomyelitis: Case report and review of the literature” [Neuroimmunology Reports Volume 2, 2022, 100066]","authors":"Masoud Etemadifar ,&nbsp;Amir Reza Mansouri ,&nbsp;Hosein Nouri ,&nbsp;Nahad Sedaghat ,&nbsp;Mehri Salari ,&nbsp;Milad Maghsoudi ,&nbsp;Narges Heydari","doi":"10.1016/j.nerep.2024.100245","DOIUrl":"10.1016/j.nerep.2024.100245","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100245"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171849","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":"IgG4-related hypophysitis and AVP-deficiency: A unique presentation and literature review","authors":"Maxime Braun ,&nbsp;Abhishek Gupta ,&nbsp;Sydney Taylor ,&nbsp;Hamza Coban ,&nbsp;Narinder Maheshwari ,&nbsp;Eric Mortensen","doi":"10.1016/j.nerep.2025.100253","DOIUrl":"10.1016/j.nerep.2025.100253","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Immunoglobulin G4-related disease (IgG4-RD) is an autoimmune condition in which IgG4-positive plasma cells locally or systemically infiltrate tissues and cause damage through inflammation and fibrosis. While IgG4-RD has been reported in nearly every organ, it preferentially manifests as retroperitoneal fibrosis, Mikulicz disease of the salivary glands, and autoimmune pancreatitis. Involvement of the pituitary gland, causing IgG4-related hypophysitis (IgG4-RH), is an infrequently encountered manifestation of the disease.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Case presentation&lt;/h3&gt;&lt;div&gt;In this case, a 56-year-old female who presents for positional dizziness is ultimately found to have IgG4-RH. The patient developed symptoms of polydipsia and polyuria along with diffuse headaches within a month of her initial presentation. Serum and urine studies were suggestive of diabetes insipidus (DI). She improved on desmopressin (DDAVP) therapy suggesting AVP-deficiency (AVP-D). Her prolactin was found to be elevated, and brain MRI revealed diffuse thickening of the pituitary stalk with enhancement. Additional workup for systemic disease with CT, lumbar puncture, and PET scan was unremarkable. Autoimmune workup showed elevated ANA and serum IgG4, and a course of high-dose IV steroids was initiated for suspected IgG4-RH. She experienced significant clinical improvement of dizziness, polyuria, polydipsia, which enhanced her sleep quality. Despite therapy, her brain MRI remains unchanged, prolactin levels remain elevated, and she continues DDAVP therapy for persisting DI.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Discussion&lt;/h3&gt;&lt;div&gt;The clinical manifestations of IgG4-RH are variable, contributing to the difficulty in diagnosis of this disease. Clinical presentations of IgG4-RH include diabetes insipidus (DI), anterior hypopituitarism, or visual disturbances due to mass effect of the pituitary. Definitive diagnosis requires histopathologic evaluation of the pituitary via biopsy, manifesting a high proportion of IgG4-positive cells. Non-invasive diagnostic methods, such as the Leporati criteria, are widely accepted and were utilized for the diagnosis of this patient. These criteria included MRI findings, elevated serum IgG4, and clinical response to steroids. The current cornerstone of treatment is glucocorticoids and targeted hormone replacement with or without the use of immunomodulators. However, there is limited follow-up of patients with insufficient data on treatment response and remission.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;IgG4-RD can have many manifestations including as it presented in this case. Improving awareness and diagnostic tools for this disease is important for swift identification and management. Treatment options are limited to glucocorticoids and targeted hormone replacement with few data on immunomodulators. This case illustrates the need for further investigation into treatment outcomes and prognosis of this disease, and development of more targ","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100253"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143816829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exercise induced oscillatory ventilation without cardiac failure in a young woman with relapsing remitting multiple sclerosis: A case report","authors":"K. Musch ,&nbsp;S.T. Timmermans ,&nbsp;J.G. van den Aardweg","doi":"10.1016/j.nerep.2025.100246","DOIUrl":"10.1016/j.nerep.2025.100246","url":null,"abstract":"<div><div>Exercise oscillatory ventilation (EOV), which occurs mainly in heart failure patients, is associated with poor prognosis. There is limited information on EOV in other populations. Here we present a case study of a young woman with relapsing-remitting multiple sclerosis who was referred for cardiopulmonary exercise testing (CPET). There were no indications of cardiac problems during the medical screening. However, during CPET, EOV was observed. Additional diagnostic tests showed no cardiovascular anomalies. After a training period, CPET was repeated and EOV had disappeared, showing that EOV can occur during exercise in patients without cardiac abnormalities and that improving the general fitness may reverse this breathing pattern.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100246"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171845","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":"Erratum to “Rapidly progressive dementia with recurrent seizures and hyponatremia; A case of LGI1 limbic encephalitis” [Neuroimmunology Reports Volume 2, 2022, 100048]","authors":"Joshua D Luster ,&nbsp;Ashley Barasa ,&nbsp;William Hoffman","doi":"10.1016/j.nerep.2024.100242","DOIUrl":"10.1016/j.nerep.2024.100242","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100242"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171848","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":"Brazilian perspectives on neurosarcoidosis broad spectrum","authors":"Carolina B. Moura ,&nbsp;Flávia Aguiar Machado ,&nbsp;Johnatan Felipe Ferreira da Conceição ,&nbsp;Isadora Gomes Mesquita ,&nbsp;Rafael Santos Correia ,&nbsp;Rodrigo Cutrim Gaudio ,&nbsp;Melina da Silva Bernardes ,&nbsp;Lucas F B Horta ,&nbsp;Caroline Bittar-Braune","doi":"10.1016/j.nerep.2025.100249","DOIUrl":"10.1016/j.nerep.2025.100249","url":null,"abstract":"<div><h3>Background</h3><div>Neurosarcoidosis (NS) is a rare form of sarcoidosis, characterized by a wide range of neurological presentations due to granulomatous inflammation affecting different areas of the nervous system. The prevalence of NS in Brazil is not well-documented, suggesting a risk of underdiagnosis in this region.</div></div><div><h3>Case Series</h3><div>This study examines a series of five patients from Brazil with biopsy-confirmed systemic sarcoidosis and probable NS. Neurological manifestations varied widely, including longitudinally extensive myelitis, myopathy, cerebellar involvement, orbital apex syndrome, and multiple cranial neuropathies. NS was the initial presentation of sarcoidosis in most cases. Diagnoses were confirmed through a detailed assessment of clinical, radiological, laboratory, and pathological findings, following established NS diagnostic criteria. Each patient underwent MRI, cerebrospinal fluid analysis, and systemic evaluations, with systemic sarcoidosis confirmed by biopsy. Treatment primarily involved corticosteroids, with some patients requiring additional immunosuppressive therapy, resulting in favorable outcomes.</div></div><div><h3>Conclusions</h3><div>This case series highlights the diagnostic challenges of NS, particularly in Brazil, where awareness may be limited. Neurologists should consider NS in cases of unexplained neurological symptoms accompanied by systemic signs. Prompt diagnosis and treatment are essential to improve patient outcomes in this potentially debilitating condition.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100249"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171847","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 case of neuromyelitis optica-associated rhombodiencephalic encephalitis","authors":"Sonya Besagar ,&nbsp;Shailee Shah ,&nbsp;John B. Bond","doi":"10.1016/j.nerep.2025.100252","DOIUrl":"10.1016/j.nerep.2025.100252","url":null,"abstract":"<div><h3>Background</h3><div>Neuromyelitis optica spectrum disorder (NMOSD) classically presents with the triad of optic neuritis, transverse myelitis, and area postrema syndrome, while brainstem encephalitis and diencephalon involvement are rare but recognized manifestations of the disease.</div></div><div><h3>Case presentation</h3><div>A 59-year-old female with type 1 diabetes mellitus presented to the comprehensive ophthalmology clinic with acute headache and oblique diplopia, and later that week developed confusion and hypersomnolence. MRI brain with contrast demonstrated prominent T2 hyperintensity in the dorsal midbrain and brainstem, and the patient was ultimately found to be positive for Aquaporin-4 antibodies and diagnosed with NMOSD.</div></div><div><h3>Case report</h3><div>Very few reports exist of bilateral ptosis secondary to NMOSD, and this case also represents a novel presentation of cranial nerve III nuclear involvement. Thus, this case offers a unique diagnostic challenge due to the uncommon presentation of the disease.</div></div><div><h3>Conclusions</h3><div>Diplopia and ptosis in conjunction with somnolence, nausea, or vertigo, all signs of diencephalon involvement, should prompt consideration of the diagnosis of NMOSD.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100252"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594046","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}