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Chen Y, Li W, Ni L, Mei Y, Zhou Y, Wan W. Case Report: Heparin-induced thrombocytopenia following double filtration plasmapheresis in a patient with anti-GAD65 autoimmune encephalitis. Front Cardiovasc Med 2025; 12:1574698. [PMID: 40276262 PMCID: PMC12018328 DOI: 10.3389/fcvm.2025.1574698] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2025] [Accepted: 03/28/2025] [Indexed: 04/26/2025] Open
Abstract
Autoimmune encephalitis (AE) is a group of disorders characterized by antibodies targeting neuronal cell surface, intracellular structures and synapse antigens. Treatment for AE involves reducing antibody levels and suppressing immune-mediated inflammation using intravenous immunoglobulin, plasma exchange (PE), and immune-modulating agents. PE is commonly used in autoimmune neurological diseases, but the safety issues of PE are worth continuous attention. This case report describes a 28-year-old patient who was diagnosed with anti-GAD65 AE and underwent treatments including double filtration plasmapheresis (DFPP), steroids, and immunosuppressive agents. However, complications arose when the patient developed thrombosis and was diagnosed with type II heparin-induced thrombocytopenia (HIT). He was treated with an oral anticoagulant and eventually recovered. One month later, follow-up examinations showed no presence of emboli and his epilepsy remained well controlled. There is a risk of HIT, a potentially dangerous adverse reaction to heparin during treatment of PE. The current case highlights the importance of monitoring for HIT during PE and the need for alternative anticoagulants.
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Affiliation(s)
| | | | | | | | | | - Wenbin Wan
- Department of Neurology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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Li S, Huo T, Geng M, Xing J, Wang T. A case report of anti-AMPAR encephalitis with involuntary limb shaking and aphasia. Medicine (Baltimore) 2025; 104:e42036. [PMID: 40193671 PMCID: PMC11977686 DOI: 10.1097/md.0000000000042036] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/18/2024] [Revised: 03/15/2025] [Accepted: 03/17/2025] [Indexed: 04/09/2025] Open
Abstract
RATIONALE Anti-alpha-amino-3-hydroxy-5-methyl-4-isozolipropionic acid receptor (AMPAR) encephalitis is a rare autoimmune encephalitis mediated by anti-AMPAR antibodies produced on the surface of neuronal cells. Anti-AMPAR encephalitis has a variety of clinical manifestations, the common clinical manifestations are characterized by borderline encephalitis, including short-term memory loss, confusion, behavioral abnormalities, and seizures. PATIENT CONCERNS Here we report a case of anti-AMPAR encephalitis in an adolescent female with aphasia as the first symptom of involuntary limb shaking. DIAGNOSES The diagnosis of anti-AMPAR encephalitis is based on clinical symptoms and further detection of serum antibodies. INTERVENTIONS AND OUTCOMES The patient responded well to intravenous methylprednisolone combined with immunoglobulin treatment, and her limbs no longer shook and her speech was fluent. LESSONS Early diagnosis of autoimmune encephalitis is challenging due to the heterogeneity of clinical manifestations. Our patient was initially diagnosed with involuntary limb movement, so we should conduct further research on symptoms associated with autoimmune encephalitis.
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Affiliation(s)
- Shuang Li
- Graduate School of Hebei North University, Zhangjiakou, Hebei, China
- Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei, China
| | - Tiantian Huo
- Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei, China
| | - Minxia Geng
- Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei, China
- Graduate School of North China University of Science and Technology, Tangshan, Hebei, China
| | - Jiahao Xing
- Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei, China
- Graduate School of Hebei Medical University, Shijiazhuang, Hebei, China
| | - Tianjun Wang
- Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei, China
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Niño Uribe MF, Van Cutsem G, Kerschen P. Leucine-rich glioma-inactivated protein 1 antibody-positive limbic encephalitis in a patient with an early-stage asymptomatic breast cancer. BMJ Case Rep 2025; 18:e261902. [PMID: 40180343 PMCID: PMC11966599 DOI: 10.1136/bcr-2024-261902] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/09/2024] [Accepted: 03/16/2025] [Indexed: 04/05/2025] Open
Abstract
Our patient is a woman who developed a subacute amnestic syndrome, followed by cognitive impairment, headache, temporal lobe epilepsy and hyponatraemia. An early-stage asymptomatic breast cancer was identified on positron emission tomography (PET) scan. After treatment with immunotherapy with high-dose corticosteroids, intravenous immunoglobulins, upfront rituximab and excision of the tumour, the patient gradually recovered. Partial retrograde and anterograde amnesia persisted during the initial weeks, followed by slow and steady improvement. Autoimmune encephalitis is a severe neurological disorder associated with antibodies against neuronal cell-surface or intracellular onconeural proteins. Anti-leucine-rich glioma inactivated 1 (LGI1) predominantly affects males in the seventh decade of life, and less than 10% of all cases are associated with cancer. Paraneoplastic cases have been associated with malignant thymoma, neuroendocrine tumours and mesothelioma and usually had Morvan syndrome, in which serum antibodies are more frequently directed against CASPR2 than against LGI1. We report the first well-documented case of anti-LGI1 limbic encephalitis in a woman with newly diagnosed breast cancer.
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Affiliation(s)
- Maria Fernanda Niño Uribe
- Neurology Department, Centre Hospitalier de Luxembourg, Luxembourg ville, Luxembourg
- University of Luxembourg, Esch-sur-Alzette, Luxembourg
| | - Gilles Van Cutsem
- University of Luxembourg, Esch-sur-Alzette, Luxembourg
- Global Health Institute, University of Antwerp Faculty of Medicine and Health Sciences, Wilrijk, Belgium
| | - Philippe Kerschen
- Neurology Department, Centre Hospitalier de Luxembourg, Luxembourg ville, Luxembourg
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Siddiqui TW, Siddiqui RW, Siddiqui SW, Fatima S, Babu HR, Shrinivas U, Dias LL, Olive J. Decoding Autoimmunity: Insights Into Neuromyelitis Optica and Its Relationship With Other Autoimmune Neurological Disorders. Cureus 2025; 17:e82062. [PMID: 40352054 PMCID: PMC12066024 DOI: 10.7759/cureus.82062] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 04/11/2025] [Indexed: 05/14/2025] Open
Abstract
Neuromyelitis optica (NMO) is a rare but debilitating autoimmune condition characterized by severe attacks of optic neuritis and transverse myelitis, often resulting in significant neurological disability. Autoantibodies targeting aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) play critical roles in disease pathogenesis, and therapeutic strategies encompassing immunosuppressive therapies and emerging biologics are employed to manage disease activity and prevent relapse. While studies suggest a potential overlap between NMO and other autoimmune neurological conditions, research in this area remains limited. This review explores the commonalities and distinctions between NMO and related autoimmune neurological disorders, hypothesizing that shared autoantibody mechanisms and clinical features may refine diagnostic criteria and therapeutic interventions. Additionally, it addresses tailored management approaches for specific clinical features of NMO and its overlaps. The paper also explores current research on biomarkers and novel treatment modalities, highlighting persistent knowledge gaps, such as understanding the immune mechanisms behind NMO and predicting individual responses to therapies. The review underscores the necessity for collaborative research efforts to improve diagnostic accuracy and therapeutic efficacy. Ultimately, these efforts will enhance personalized care strategies and optimize outcomes and quality of life for patients with NMO and related autoimmune neurological disorders.
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Affiliation(s)
- Tabish W Siddiqui
- Department of Medicine, RAK Medical and Health Sciences University, Ras al Khaimah, ARE
| | - Raqshan W Siddiqui
- Department of Medicine, RAK Medical and Health Sciences University, Ras Al Khaimah, ARE
| | - Shiza W Siddiqui
- Department of Internal Medicine, King Khalid University Hospital, Abha, SAU
| | - Sohaila Fatima
- Department of Pathology, King Khalid University, Abha, SAU
| | - Hiba R Babu
- Department of Medicine, RAK Medical and Health Sciences University, Ras al Khaimah, ARE
| | - Uvashree Shrinivas
- Department of Medicine, RAK Medical and Health Sciences University, Ras al Khaimah, ARE
| | - Leah L Dias
- Department of Medicine, RAK Medical and Health Sciences University, Ras al Khaimah, ARE
| | - Jefina Olive
- Department of Medicine, RAK Medical and Health Sciences University, Ras al Khaimah, ARE
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Meng H, Chen X, Chen S. Sleep Disturbances in Autoimmune Neurological Diseases: Mechanisms, Clinical Characteristics, Assessment, and Treatment Strategies. Curr Neurol Neurosci Rep 2024; 24:645-663. [PMID: 39297918 DOI: 10.1007/s11910-024-01377-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/03/2024] [Indexed: 09/21/2024]
Abstract
PURPOSE OF REVIEW Sleep disturbances are a hallmark feature of various autoimmune neurological diseases (AINDs). However, limited awareness of these sleep manifestations exists among clinicians. We provide a comprehensive overview of assessment methods, characteristic sleep disturbances, the impact of specific antibodies on sleep patterns, and treatment strategies for sleep disturbances in AINDs. RECENT FINDINGS Research advancements in sleep disturbances in autoimmune neurological disease focus primarily on four areas: mechanisms, clinical characteristics, assessment, and treatment. Regarding mechanisms, animal models for AINDs, particularly those involving specific antibodies like anti-NMDAR, anti-LGI1, and anti-IgLON5, have become more comprehensive. Recent advancements in animal models have led to the establishment of numerous models for AINDs; these models include a wide range of antibodies, including anti-NMDAR, anti-LGI1, and anti-IgLON5. Several studies using these models have revealed common mechanisms underlying sleep disturbances in these diseases. In terms of clinical characteristics, the identification of antibodies associated with recently discovered AINDs has expanded the spectrum of sleep disturbance symptoms observed compared to prior findings. A comprehensive evaluation system for the assessment of sleep disturbances has been established, including questionnaires, polysomnography, functional magnetic resonance imaging, and 18F-FDG PET/CT. Additionally, cardiopulmonary coupling shows promise as a novel assessment tool. Currently, no universally effective treatment exists for sleep disturbances in autoimmune neurological diseases, either through symptomatic treatment or immunosuppressive therapy. Further studies are needed to confirm the efficacy of new therapies and validate the benefits of existing treatments. Sleep disturbances are a hallmark feature of AINDs. Recent advancements have significantly expanded our understanding of their assessment and treatment. However, further studies are needed to address the remaining uncertainties in sleep disturbance management.
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Affiliation(s)
- Huanyu Meng
- Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Ruijin 2 Road, Shanghai, 200025, China
- Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu Province, China
| | - Xiaoyu Chen
- Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Ruijin 2 Road, Shanghai, 200025, China
| | - Sheng Chen
- Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Ruijin 2 Road, Shanghai, 200025, China.
- Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu Province, China.
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Sakharova T, Aringazina R, Lilyanov N, Monov D. Features of the clinical course of Autoimmune Encephalitis Associated with various antibodies. Neurol Sci 2024; 45:5413-5421. [PMID: 38806881 DOI: 10.1007/s10072-024-07604-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/18/2024] [Accepted: 05/16/2024] [Indexed: 05/30/2024]
Abstract
Despite the increasing incidence of autoimmune encephalitis and the incomplete recovery observed in patients post-affliction, the issue of timely diagnosis remains unresolved. The primary objective of this study is identification the distinctive clinical presentation features evaluation the management strategies, and assess the outcomes of the disease in patients with various forms of autoimmune encephalitis. The research aims to contribute in a better understanding of the disease progression and facilitate the selection of optimal therapeutic interventions. A retrospective observational study enrolled 68 patients aged 18 years and older with verified autoimmune encephalitis who underwent treatment in state hospitals in Sofia, Bulgaria, from the beginning of 2014 to the end of 2022. The number of patients with pathology linked to antibodies against glycine receptors (Gly-R) was half as much, with 32 and 17 patients, respectively. The primary manifestations of autoimmune encephalitis included cognitive impairments observed in 51 patients, seizures occurring in 44 patients, and mood disorders observed in 22 patients. While the findings of imaging studies were nonspecific, hospitalizations for patients with this pathology, especially those with antibodies to CASPR2 and DPPX, were prolonged (114 and 232 days, respectively). In the vast majority of cases, incomplete recovery with residual symptoms was noted. Among the diverse forms of autoimmune encephalitis, the most prevalent is NMDA-R. Cognitive impairments predominate in the autoimmune encephalitis clinical presentation. Prolonged hospitalization periods and incomplete recovery of patients are characteristic features of autoimmune encephalitis, despite combined therapy involving intravenous administration of methylprednisolone and immunoglobulins.
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Affiliation(s)
- Tatyana Sakharova
- Department of Biology and General Genetics, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
| | - Raisa Aringazina
- Department of Internal Diseases № 1, Non-Commercial Joint-Stock Society «West Kazakhstan Marat Ospanov Medical University», Aktobe, Kazakhstan
| | - Nikolay Lilyanov
- Department of Anesthesiology and Intensive Care, Medical University of Sofia, Sofia, Bulgaria.
| | - Dimitar Monov
- Department of Anesthesiology and Intensive Care, Medical University of Sofia, Sofia, Bulgaria
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Kyaw AK, Ohnmar, Win ZN, Win SK, Shwe ZM, Show KL, Oo NAT, Win MT, Aung KZ, Naing WPP, Lay PP, Thu HM, Htun ZT. Etiology, Clinical Profiles, and Outcomes of Acute Encephalitis Syndrome Cases Admitted to a Tertiary Care Center in Myanmar in 2023. Diagnostics (Basel) 2024; 14:2248. [PMID: 39410652 PMCID: PMC11475188 DOI: 10.3390/diagnostics14192248] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2024] [Revised: 10/02/2024] [Accepted: 10/07/2024] [Indexed: 10/20/2024] Open
Abstract
BACKGROUND/OBJECTIVES The diagnosis of encephalitis is a challenging problem due to the heterogeneity of clinical presentations. The objective was to determine the etiology, clinical features, laboratory parameters, radiological findings, and in-hospital outcome of acute encephalitis syndrome (AES) cases in Myanmar. METHODS A prospective descriptive study was conducted at the Neuromedical Ward of Yangon General Hospital from March to August 2023. Eighty-one AES cases were enrolled, and cerebrospinal fluid (CSF) samples were collected. A Qiastat ME Panel was used to detect viral, bacterial, and fungal pathogens. RESULTS Seventeen out of eighty-one (21%) cases were non-encephalitis with alternative definite diagnosis. Among the remaining 64 encephalitis cases, the exact infectious and immune etiologies were identified in 31 of 64 cases (48.4%); 26 of these (83.9%) were due to infectious causes and 5 (16.1%) were immune encephalitis. Among the infectious causes, six Herpes Simplex Virus-1-, one bacteriologically confirmed and seven probable Mycobacterium tuberculosis-, three Haemophilus influenzae-, two Streptococcus pneumoniae-, one Streptococcus pyogenes-, one Varicella-Zoster Virus (Ramsay Hunt Syndrome with meningoencephalitis)-, and two Cryptococcus neoformans-infected patients and rare causes such as Listeria monocytogenes, Burkholdelria cepacia, Sphingomonas paucimobilis, and Aspergillus were identified. One case was a dual infection with Haemophilus influenzae and Cryptococcus neformans. Abnormal protein levels and CSF pleocytosis were significantly higher among bacterial causes (p < 0.05). In total, 6.45% (2/31) of encephalitis patients with identified causes and 12.12% (4/33) of those without an identified organism had poor outcome. CONCLUSIONS Herpes encephalitis and tuberculous meningoencepalitis were the commonest. This study highlighted that molecular testing with a multidisciplinary approach is required to ensure the right treatment on time.
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Affiliation(s)
- Aung Kyaw Kyaw
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Ohnmar
- Department of Neurology, University of Medicine 1, Yangon General Hospital, Ministry of Health, Yangon 11111, Myanmar
| | - Zin Nwe Win
- Department of Neurology, University of Medicine 1, Yangon General Hospital, Ministry of Health, Yangon 11111, Myanmar
| | - Sai Kyaw Win
- Department of Neurology, University of Medicine 1, Yangon General Hospital, Ministry of Health, Yangon 11111, Myanmar
| | - Zarni Myint Shwe
- Department of Neurology, University of Medicine 1, Yangon General Hospital, Ministry of Health, Yangon 11111, Myanmar
| | - Kyaw Lwin Show
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Nan Aye Thida Oo
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Mya Thandar Win
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Khin Zarchi Aung
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Win Pa Pa Naing
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Phyu Phyu Lay
- Department of Neurology, University of Medicine 1, Yangon General Hospital, Ministry of Health, Yangon 11111, Myanmar
| | - Hlaing Myat Thu
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
| | - Zaw Than Htun
- Department of Medical Research, Ministry of Health, Yangon 11191, Myanmar
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Abu Melha AA, Aldress AS, Alamri F, Aljomah LS, Hommady R, Al-Rumayyan A, Albassam F. Prognostic factors and treatment outcomes in pediatric autoimmune encephalitis: a multicenter study. Front Neurol 2024; 15:1441033. [PMID: 39286808 PMCID: PMC11402692 DOI: 10.3389/fneur.2024.1441033] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/30/2024] [Accepted: 08/05/2024] [Indexed: 09/19/2024] Open
Abstract
INTRODUCTION The last few decades have increased our understanding of autoimmune encephalitis (AE). In both the pediatric and adult populations, it proves to be a disease of dramatic acute onset of heterogeneous clinical manifestations, notably encephalopathy with neuropsychiatric symptoms, seizures, and extrapyramidal symptoms. More often, it is triggered by a viral infection in the pediatric age groups, as suggested by the preceding febrile symptoms in over half of cases, and more ostensibly, NMDAR encephalitis post herpes encephalitis. An underlying neoplasm may be present in certain types (i.e., NMDAR encephalitis). The rising rate of antibody detection and subsequent confirmation has been boosted by improved live cellular assay detection methods. The corresponding clinical phenotypes, common underlying malignancies, and histopathological findings have helped improve our management regarding intervention and choice of immunotherapy. New assessment tools such as the Clinical Assessment Scale in Autoimmune Encephalitis (CASE score) have helped improve the objective assessment of impact on cognitive functions (1). Early intervention with immunotherapy (and tumor removal in proven underlying neoplasms) has improved overall outcomes in most presenting patients. But nearly 40% of cases fail to respond to the first tier of treatment (2). The complex interplay between pathogenic autoantibodies, T-cells, B-cells, and cytokines has led to the emergence of additional immunotherapy agents (i.e., tocilizumab and bortezomib). METHODS In this retrospective observational study of pediatric AE conducted at two tertiary care centers, we observed the clinical characteristics, autoantibody yield, treatment modalities used, and disability scores during presentation and follow-up. Our secondary aim was to delineate prognostic factors for poor outcomes. RESULTS Neuropsychiatric symptoms, encephalopathy, and seizures were the predominant manifestations in most of our patients. Younger age groups, refractory seizures, profound encephalopathy, and refractory disease harbored higher disability scores. The group that received combined immunotherapy has shown mitigation of disability score from severe to mild during long-term follow-up, signifying the role of multifaceted immunotherapy in pediatric refractory AE. CONCLUSION Early implementation of combined immunotherapy in refractory cases significantly improved longterm disability scores, in spite of lingering residual effects on neurologic functions, notably cognition, behavior, and speech.
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Affiliation(s)
- Ahlam Ahmed Abu Melha
- Department of Pediatric Neurology, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
- King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
| | - Amjad Saad Aldress
- Department of Pediatric Neurology, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
- King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
| | - Fahad Alamri
- Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia
| | - Lama Saleh Aljomah
- Department of Pediatric Neurology, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
- King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
| | - Raid Hommady
- Department of Pediatric Neurology, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
- King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
| | - Ahmed Al-Rumayyan
- Department of Pediatric Neurology, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
- King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
- King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
| | - Fahad Albassam
- Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia
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Houen G. Auto-immuno-deficiency syndromes. Autoimmun Rev 2024; 23:103610. [PMID: 39209011 DOI: 10.1016/j.autrev.2024.103610] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Revised: 08/26/2024] [Accepted: 08/26/2024] [Indexed: 09/04/2024]
Abstract
Autoimmune diseases constitute a broad, heterogenous group with many diverse and often overlapping symptoms. Even so, they are traditionally classified as either systemic, rheumatic diseases or organ-directed diseases. Several theories exist about autoimmune diseases, including defective self-recognition, altered self, molecular mimicry, bystander activation and epitope spreading. While there is no consensus about these theories, it is generally accepted that genetic, pre-disposing factors in combination with environmental factors can result in autoimmune disease. The relative contribution of genetic and environmental factors varies between diseases, as does the significance of individual contributing factors within related diseases. Among the genetic factors, molecules involved in antigen (Ag) recognition, processing, and presentation stand out (e.g., MHC I and II) together with molecules involved in immune signaling and regulation of cellular interactions (i.e., immuno-phenotypes). Also, various immuno-deficiencies have been linked to development of autoimmune diseases. Among the environmental factors, infections (e.g., viruses) have attracted most attention, but factors modulating the immune system have also been the subject of much research (e.g., sunlight and vitamin D). Multiple sclerosis currently stands out due to a very strong and proven association with Epstein-Barr virus infection, notably in cases of late infection and in cases of EBV-associated mononucleosis. Thus, a common picture is emerging that both systemic and organ-directed autoimmune diseases may appropriately be described as auto-immuno-deficiency syndromes (AIdeSs), a concept that emphasizes and integrates existing knowledge on the role of immuno-deficiencies and chronic infections with development of overlapping disease syndromes with variable frequencies of autoantibodies and/or autoreactive T cells. This review integrates and exemplifies current knowledge on the interplay of genetically determined immuno-phenotypes and chronic infections in the development of AIdeSs.
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Affiliation(s)
- Gunnar Houen
- Department of Neurology and Translational Research Center (TRACE), Rigshospitalet, Nordstjernevej 42, DK-2600 Glostrup, Denmark; Department of Biochemistry and Molecular Biology, University of Southern Denmark, DK-5230 Odense, Denmark.
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10
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Chen HY, Wang J, Song DY, Wang B, Xu ZY, Wu Q, Wang ZL. Anti-contact protein-associated protein 2 antibody encephalitis in children: A case report. World J Clin Cases 2024; 12:4365-4371. [PMID: 39015900 PMCID: PMC11235534 DOI: 10.12998/wjcc.v12.i20.4365] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/24/2024] [Revised: 05/07/2024] [Accepted: 05/20/2024] [Indexed: 06/30/2024] Open
Abstract
BACKGROUND Anti-contactin-associated protein-like 2 (CASPR2) antibody encephalitis is an autoimmune disorder characterized by the presence of antibodies against the voltage-gated potassium channel. This leads to neurological symptoms, such as seizures, cognitive decline, and neuropathic pain, primarily affecting the limbic system. The prognosis of this disorder varies among individuals. CASE SUMMARY The patient, a girl aged nine years and nine months, underwent treatment for 14 to 21 d. The main clinical manifestations were vomiting and unclear consciousness, positive pathological signs, normal cranial computed tomography and magnetic resonance imaging, and abnormal electroencephalogram. The child was discharged after receiving immunoglobulin and hormone treatment. Subsequent follow-up over a period of 15 months after discharge, conducted through telephone and outpatient visits, showed no recurrence of symptoms. CONCLUSION Anti-CASPR2 antibody autoimmune encephalitis in children is rare, mainly manifested as convulsions, mental abnormalities, cognitive impairment, and neuropathic pain, among others. Timely evaluation for autoimmune encephalitis antibodies is crucial, especially in cases of recurrent central nervous system involvement in children.
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Affiliation(s)
- Hong-Yun Chen
- Department of Paediatrics, Cangzhou Fourth Hospital (Nanpi County People’s Hospital), Cangzhou 061500, Hebei Province, China
| | - Juan Wang
- Department of Paediatrics, Cangzhou Fourth Hospital (Nanpi County People’s Hospital), Cangzhou 061500, Hebei Province, China
| | - Dan-Yang Song
- Department of Paediatric Emergency Medicine, Cangzhou Central Hospital, Cangzhou 061000, Hebei Province, China
| | - Bin Wang
- Department of Paediatrics, Cangzhou Fourth Hospital (Nanpi County People’s Hospital), Cangzhou 061500, Hebei Province, China
| | - Zhi-Yun Xu
- Department of Paediatrics, Cangzhou Fourth Hospital (Nanpi County People’s Hospital), Cangzhou 061500, Hebei Province, China
| | - Qian Wu
- Department of Paediatrics, Cangzhou Fourth Hospital (Nanpi County People’s Hospital), Cangzhou 061500, Hebei Province, China
| | - Zhi-Liang Wang
- Department of Neurosurgery, Cangzhou Fourth Hospital (Nanpi County People’s Hospital), Cangzhou 061500, Hebei Province, China
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Lin Z, Zhou F, Ni L, Dong S, Fu G, Zhao J. Case report: Successful treatment of an anti-D2R and DPPX antibody-associated autoimmune encephalitis patient with high-dose methylprednisolone and intravenous immunoglobulin. Front Immunol 2024; 15:1338714. [PMID: 38469308 PMCID: PMC10925708 DOI: 10.3389/fimmu.2024.1338714] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2023] [Accepted: 02/02/2024] [Indexed: 03/13/2024] Open
Abstract
Background Autoimmune encephalitis is a neurological condition caused by abnormal immune responses, manifesting as cognitive impairments, behavioral abnormalities, and seizures. Its diagnosis depends on the detecting neuronal surface antibodies in serum or cerebrospinal fluid. Despite recent advances in understanding, clinical recognition remains challenging, especially with rare antibodies such as anti-dopamine D2 receptor (D2R) and anti-dipeptidyl-peptidase-like protein 6 (DPPX) antibodies. Delayed diagnosis can lead to severe complications. This case presentation emphasizes the diagnostic intricacies and effective treatment of the anti-D2R and DPPX antibody-associated autoimmune encephalitis. Case description The patient presented with a 3-day history of fatigue and limb soreness followed by a 3-h episode of confusion and limb convulsions. Upon admission to our facility, the initial diagnosis included status epilepticus, aspiration pneumonia, metabolic acidosis, respiratory alkalosis, and suspected encephalitis. Despite receiving antiepileptic, anti-infection, and antivirus therapy, the patient's condition deteriorated. Both computed tomography (CT) scan and magnetic resonance imaging (MRI) of the brain showed no significant abnormalities. No pathogen was identified in the cerebrospinal fluid (CSF). However, further CSF and serum examination revealed positive results of anti-D2R and anti-DPPX antibodies, confirming a diagnosis of anti-D2R and DPPX antibody-associated autoimmune encephalitis. The patient underwent a comprehensive treatment regimen, including high-dose methylprednisolone pulse therapy combined with intravenous immunoglobulin (IVIG), antiviral and anti-infection treatments, and antiepileptic medications. Significant clinical improvement was observed, and by the 18th day of admission, the patient was stable and coherent. Conclusions The current patient represents the first reported case of double-positive autoimmune encephalitis for anti-D2R and DPPX antibodies, with epilepsy as a prominent feature. High-dose methylprednisolone pulse therapy combined with IVIG has shown significant safety and efficacy in treating anti-D2R and DPPX antibody-positive autoimmune encephalitis-associated epilepsy.
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Affiliation(s)
- Zhangliang Lin
- Neurology Department, Shaoxing No.2 Hospital Meical Community General Hospital, Shaoxing, China
| | - Feng Zhou
- Neurology Department, Shaoxing No.2 Hospital Meical Community General Hospital, Shaoxing, China
| | - Lili Ni
- Neurology Department, Shaoxing No.2 Hospital Meical Community General Hospital, Shaoxing, China
| | - Shiye Dong
- Department of Medicine, Shanghai Biotecan Pharmaceuticals Co., Ltd., Shanghai Zhangjiang Institute of Medical Innovation, Shanghai, China
| | - Guoping Fu
- Neurology Department, Shaoxing No.2 Hospital Meical Community General Hospital, Shaoxing, China
| | - Jiangman Zhao
- Department of Medicine, Shanghai Biotecan Pharmaceuticals Co., Ltd., Shanghai Zhangjiang Institute of Medical Innovation, Shanghai, China
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