Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2025.100251
Ladan Bigdeli , Jesus R Salas , Aaren E. Kettelhut , Mohammad Shujaat , Cole A Harrington
Background
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 LAT gene resulting in central nervous system (CNS) disorders have not previously been reported.
Case presentation
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.
Case report
Patient with LAT 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 (CTLA4). CNS inflammatory disorder improved with treatment with CTLA4-IgG1 fusion protein abatacept. This is the first reported case of CNS inflammation associated with a LAT gene mutation.
Conclusions
LAT and CTLA4 mutations appear to result in overlapping phenotypes and patients with mutations in LAT or proteins involved in LAT signaling may exhibit similar presentations and responses to immune checkpoint inhibitors.
{"title":"Linker for activation of T cells (LAT) mutation leading to CNS neuroimmunological disorder with treatment response to abatacept","authors":"Ladan Bigdeli , Jesus R Salas , Aaren E. Kettelhut , Mohammad Shujaat , 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-IgG<sub>1</sub> 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}
Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2025.100259
Mustafa Hammad , Wasef Alhroub , Alhareth Amro , Rama Rije , Mohammad Abu Saif , Mohammad Abo-Ghosh
Background
Stiff person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive muscle rigidity and spasms. Stiff limb syndrome (SLS) is a rare, more localized variant of SPS.
Case presentation
This case report describes a 52-year-old woman who presented with a 2-year history of slowly progressive right leg stiffness causing severe spasms and difficulty in walking. Neurological examination showed severe spasticity of the right leg, increased deep tendon reflexes in all extremities, worse on the right leg and inability to stand due to the severity of the pain and spasticity of the right leg. Laboratory findings revealed elevated glutamic acid decarboxylase (GAD) antibodies, and positive pancreatic islet cells antibodies (ICA). Electromyography demonstrated continuous motor unit activity, that improved after administration of a benzodiazepine. The patient was treated with a benzodiazepine, which led to significant improvement in her symptoms.
Discussion
This article documented the first reported case of SLS in Palestine, highlighting the importance of early recognition and appropriate treatment of SLS to minimize functional impairment in patients. Detailed clinical features, laboratory findings, and the patient's response to therapy are discussed to emphasize the diagnostic challenges and management strategies for this rare neurological condition.
{"title":"Stiff limb syndrome, first case report in Palestine","authors":"Mustafa Hammad , Wasef Alhroub , Alhareth Amro , Rama Rije , Mohammad Abu Saif , Mohammad Abo-Ghosh","doi":"10.1016/j.nerep.2025.100259","DOIUrl":"10.1016/j.nerep.2025.100259","url":null,"abstract":"<div><h3>Background</h3><div>Stiff person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive muscle rigidity and spasms. Stiff limb syndrome (SLS) is a rare, more localized variant of SPS.</div></div><div><h3>Case presentation</h3><div>This case report describes a 52-year-old woman who presented with a 2-year history of slowly progressive right leg stiffness causing severe spasms and difficulty in walking. Neurological examination showed severe spasticity of the right leg, increased deep tendon reflexes in all extremities, worse on the right leg and inability to stand due to the severity of the pain and spasticity of the right leg. Laboratory findings revealed elevated glutamic acid decarboxylase (GAD) antibodies, and positive pancreatic islet cells antibodies (ICA)<em>.</em> Electromyography demonstrated continuous motor unit activity, that improved after administration of a benzodiazepine. The patient was treated with a benzodiazepine, which led to significant improvement in her symptoms.</div></div><div><h3>Discussion</h3><div>This article documented the first reported case of SLS in Palestine, highlighting the importance of early recognition and appropriate treatment of SLS to minimize functional impairment in patients. Detailed clinical features, laboratory findings, and the patient's response to therapy are discussed to emphasize the diagnostic challenges and management strategies for this rare neurological condition<strong>.</strong></div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100259"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942949","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}
Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2025.100253
Maxime Braun , Abhishek Gupta , Sydney Taylor , Hamza Coban , Narinder Maheshwari , Eric Mortensen
Background
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.
Case presentation
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.
Discussion
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.
Conclusions
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
{"title":"IgG4-related hypophysitis and AVP-deficiency: A unique presentation and literature review","authors":"Maxime Braun , Abhishek Gupta , Sydney Taylor , Hamza Coban , Narinder Maheshwari , Eric Mortensen","doi":"10.1016/j.nerep.2025.100253","DOIUrl":"10.1016/j.nerep.2025.100253","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Case presentation</h3><div>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.</div></div><div><h3>Discussion</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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}
Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2025.100246
K. Musch , S.T. Timmermans , J.G. van den Aardweg
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.
{"title":"Exercise induced oscillatory ventilation without cardiac failure in a young woman with relapsing remitting multiple sclerosis: A case report","authors":"K. Musch , S.T. Timmermans , 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}
Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2024.100242
Joshua D Luster , Ashley Barasa , William Hoffman
{"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 , Ashley Barasa , 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}
Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2025.100252
Sonya Besagar , Shailee Shah , John B. Bond
Background
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.
Case presentation
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.
Case report
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.
Conclusions
Diplopia and ptosis in conjunction with somnolence, nausea, or vertigo, all signs of diencephalon involvement, should prompt consideration of the diagnosis of NMOSD.
{"title":"A case of neuromyelitis optica-associated rhombodiencephalic encephalitis","authors":"Sonya Besagar , Shailee Shah , 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}
Pub Date : 2025-01-01DOI: 10.1016/j.nerep.2025.100249
Carolina B. Moura , Flávia Aguiar Machado , Johnatan Felipe Ferreira da Conceição , Isadora Gomes Mesquita , Rafael Santos Correia , Rodrigo Cutrim Gaudio , Melina da Silva Bernardes , Lucas F B Horta , Caroline Bittar-Braune
Background
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.
Case Series
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.
Conclusions
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.
{"title":"Brazilian perspectives on neurosarcoidosis broad spectrum","authors":"Carolina B. Moura , Flávia Aguiar Machado , Johnatan Felipe Ferreira da Conceição , Isadora Gomes Mesquita , Rafael Santos Correia , Rodrigo Cutrim Gaudio , Melina da Silva Bernardes , Lucas F B Horta , 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}
Pub Date : 2024-12-01DOI: 10.1016/j.nerep.2024.100233
Mario B Prado , Karen Joy Adiao
For NMOSD and MOGAD, onset and relapses are often preceded by non-specific infections, but up until now no known microorganism has been identified to be strongly associated with these conditions. Syphilis as inciting event for NMOSD or MOGAD has only been reported once (Wilcox et al., 2008). This case report examines whether syphilis triggers autoimmune CNS condition or autoimmune CNS disease may cause false positive confirmatory treponemal test. The patient is a 30-year-old who came in with 8-month history of sudden onset spasticity and ataxia of bilateral lower extremities and blindness, confirmed to be transverse myelitis via imaging and optic neuritis by optic coherence tomography respectively. Anti-AQ4 and anti-MOG were negative, however, the patient repeatedly tested positive in FTA-ABS. We suspect that through molecular mimicry and bystander activation, there is a possibility that syphilis may have incited the onset and relapse of his autoimmune CNS demyelinating condition.
对于NMOSD和MOGAD，发病和复发通常先于非特异性感染，但到目前为止还没有发现与这些疾病密切相关的已知微生物。梅毒作为NMOSD或MOGAD的诱因事件只报道过一次（Wilcox et al., 2008）。本病例报告探讨梅毒是否引发自身免疫性中枢神经系统疾病或自身免疫性中枢神经系统疾病可能导致假阳性确证梅毒螺旋体试验。患者30岁，有8个月的猝发性双下肢痉挛、共济失调及失明病史，影像学证实为横断性脊髓炎，视神经相干断层扫描证实为视神经炎。抗aq4和抗mog均为阴性，但患者反复检测ta - abs呈阳性。我们怀疑，通过分子模仿和旁观者激活，梅毒可能引发了其自身免疫性中枢神经系统脱髓鞘状况的发作和复发。
{"title":"Autoimmune demyelinating central nervous system disease in young male with persistently positive fluorescent treponemal antibody absorption test: A case report","authors":"Mario B Prado , Karen Joy Adiao","doi":"10.1016/j.nerep.2024.100233","DOIUrl":"10.1016/j.nerep.2024.100233","url":null,"abstract":"<div><div>For NMOSD and MOGAD, onset and relapses are often preceded by non-specific infections, but up until now no known microorganism has been identified to be strongly associated with these conditions. Syphilis as inciting event for NMOSD or MOGAD has only been reported once (Wilcox et al., 2008). This case report examines whether syphilis triggers autoimmune CNS condition or autoimmune CNS disease may cause false positive confirmatory treponemal test. The patient is a 30-year-old who came in with 8-month history of sudden onset spasticity and ataxia of bilateral lower extremities and blindness, confirmed to be transverse myelitis via imaging and optic neuritis by optic coherence tomography respectively. Anti-AQ4 and anti-MOG were negative, however, the patient repeatedly tested positive in FTA-ABS. We suspect that through molecular mimicry and bystander activation, there is a possibility that syphilis may have incited the onset and relapse of his autoimmune CNS demyelinating condition.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"6 ","pages":"Article 100233"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744787","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}
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