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JAAD Case Reports Jun 2024
PubMed: 38813062
DOI: 10.1016/j.jdcr.2024.04.004 -
Journal of Integrative Neuroscience May 2024The alterations of the functional network (FN) in anti-N-methyl-Daspartate receptor (NMDAR) encephalitis have been recognized by functional magnetic resonance imaging...
OBJECTIVE
The alterations of the functional network (FN) in anti-N-methyl-Daspartate receptor (NMDAR) encephalitis have been recognized by functional magnetic resonance imaging studies. However, few studies using the electroencephalogram (EEG) have been performed to explore the possible FN changes in anti-NMDAR encephalitis. In this study, the aim was to explore any FN changes in patients with anti-NMDAR encephalitis.
METHODS
Twenty-nine anti-NMDAR encephalitis patients and 29 age- and gender-matched healthy controls (HC) were assessed using 19-channel EEG examination. For each participant, five 10-second epochs of resting state EEG with eyes closed were extracted. The cortical source signals of 84 Brodmann areas were calculated using the exact low resolution brain electromagnetic tomography (eLORETA) inverse solution by LORETA-KEY. Phase Lag Index (PLI) matrices were then obtained and graph and relative band power (RBP) analyses were performed.
RESULTS
Compared with healthy controls, functional connectivity (FC) in the delta, theta, beta 1 and beta 2 bands significantly increased within the 84 cortical source signals of anti-NMDAR encephalitis patients ( < 0.05) and scalp FC in the alpha band decreased within the 19 electrodes. Additionally, the anti-NMDAR encephalitis group exhibited higher local efficiency and clustering coefficient compared to the healthy control group in the four bands. The slowing band RBP increased while the fast band RBP decreased in multiple-lobes and some of these changes in RBP were correlated with the modified Rankin Scale (mRS) and Mini-mental State Examination (MMSE) in anti-NMDAR encephalitis patients.
CONCLUSIONS
This study further deepens the understanding of related changes in the abnormal brain network and power spectrum of anti-NMDA receptor encephalitis. The decreased scalp alpha FC may indicate brain dysfunction, while the increased source beta FC may indicate a compensatory mechanism for brain function in anti-NMDAR encephalitis patients. These findings extend understanding of how the brain FN changes from a cortical source perspective. Further studies are needed to detect correlations between altered FNs and clinical features and characterize their potential value for the management of anti-NMDAR encephalitis.
Topics: Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Female; Male; Adult; Electroencephalography; Young Adult; Nerve Net; Brain Waves; Adolescent; Brain; Connectome
PubMed: 38812385
DOI: 10.31083/j.jin2305099 -
Frontiers in Immunology 2024There is always a lack of effective treatment for highly active refractory generalized myasthenia gravis (GMG). Recently, telitacicept combined with efgartigimod...
There is always a lack of effective treatment for highly active refractory generalized myasthenia gravis (GMG). Recently, telitacicept combined with efgartigimod significantly reduces circulating B cells, plasma cells, and immunoglobulin G, which brings promising therapeutic strategies. We report a case of a 37-year-old female patient with refractory GMG, whose condition got significant improvement and control with this latest treatment after multiple unsuccessful therapies of immunosuppressants. The new combination deserves further attention in the therapeutic application of myasthenia gravis.
Topics: Humans; Myasthenia Gravis; Female; Adult; Drug Therapy, Combination; Treatment Outcome; Immunosuppressive Agents
PubMed: 38799457
DOI: 10.3389/fimmu.2024.1400459 -
Frontiers in Immunology 2024Cerebellar ataxia is an uncommon and atypical manifestation of anti--methyl-D-aspartate receptor (NMDAR) encephalitis, often accompanied by seizures, psychiatric...
Cerebellar ataxia is an uncommon and atypical manifestation of anti--methyl-D-aspartate receptor (NMDAR) encephalitis, often accompanied by seizures, psychiatric symptoms, and cognitive deficits. Previous cases of isolated brainstem-cerebellar symptoms in patients with anti-NMDAR encephalitis have not been documented. This report presents a case of anti-NMDAR encephalitis in which the patient exhibited cerebellar ataxia, nystagmus, diplopia, positive bilateral pathological signs, and hemiparesthesia with no other accompanying symptoms or signs. The presence of positive CSF anti-NMDAR antibodies further supports the diagnosis. Other autoantibodies were excluded through the use of cell-based assays. Immunotherapy was subsequently administered, leading to a gradual recovery of the patient.
Topics: Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Brain Stem; Autoantibodies; Female; Cerebellar Ataxia; Cerebellum; Receptors, N-Methyl-D-Aspartate; Adult; Immunotherapy; Male; Magnetic Resonance Imaging
PubMed: 38799430
DOI: 10.3389/fimmu.2024.1388667 -
American Journal of Ophthalmology Case... Sep 2024To describe ocular sarcoid-like reaction as a unique manifestation of paraneoplastic syndrome in the context of concurrent pulmonary sarcoid-like reaction and lung...
PURPOSE
To describe ocular sarcoid-like reaction as a unique manifestation of paraneoplastic syndrome in the context of concurrent pulmonary sarcoid-like reaction and lung adenocarcinoma.
METHODS
Single case report and narrative review.
RESULTS
A 59-year-old male patient presented with a year-long history of diminished vision and weight loss. Clinical examination revealed panuveitis and multiple chorioretinal lesions. A CT scan of the chest revealed mediastinal and hilar lymphadenopathy as well as a spiculated right lower lung nodule concerning for malignancy. Subsequent bronchoscopy and biopsy confirmed lung adenocarcinoma and non-caseating granulomas in sentinel lymph nodes.
CONCLUSION
Although pulmonary granulomatous reaction can be seen in the setting of lung malignancy, and ocular sarcoid-like reaction may present as a paraneoplastic manifestation of systemic malignancy, the presence of concomitant pulmonary and ocular sarcoid-like reactions distinguishes this case. The findings underscore the importance of a systemic workup for patients with concerning constitutional symptoms, as paraneoplastic syndromes and metastatic diseases may mimic uveitis. Recognition of paraneoplastic sarcoidosis as a potential clinical manifestation is essential, especially in patients with chronic illness indicators, necessitating a comprehensive evaluation for malignancy.
PubMed: 38799225
DOI: 10.1016/j.ajoc.2024.102076 -
BMC Neurology May 2024Ectopic cervical thymoma (ECT) is an extremely rare tumor, especially in association with myasthenia gravis (MG).
BACKGROUND
Ectopic cervical thymoma (ECT) is an extremely rare tumor, especially in association with myasthenia gravis (MG).
CASE PRESENTATION
We report a case of myasthenia gravis with an ectopic thymoma in the neck, whose myasthenic symptoms significantly improved after complete removal of the mass. A 55-year-old woman with generalized myasthenia gravis (MG) experienced worsening neuromuscular weakness after abruptly discontinuing pyridostigmine. Testing revealed acetylcholine receptor-antibody (AChR-Ab) positivity and a cervical mass initially thought to be thyroid or parathyroid was identified as a thymoma, type A. Post-surgery and radiation therapy, her myasthenic symptoms improved significantly with less prednisone and pyridostigmine requirements over time and no need for additional immunotherapies.
CONCLUSIONS
Diagnosing ECTs is challenging due to rarity, atypical locations, and inconclusive fine needle aspiration cytology (FNAC) results, often misinterpreted as thyroid or parathyroid lesions. As proper management of patients with MG, including thymectomy, offers favorable clinical outcomes such as significant improvement in myasthenic complaints and reduced immunosuppressive medication requirements, clinicians should be vigilant of the ectopic locations of thymomas to ensure timely diagnosis and intervention.
Topics: Humans; Female; Myasthenia Gravis; Middle Aged; Thymoma; Thymus Neoplasms; Choristoma
PubMed: 38783232
DOI: 10.1186/s12883-024-03656-6 -
F1000Research 2022Pulmonary alveolar proteinosis is a very rare diffuse lung disease characterized by the accumulation of amorphous and periodic acid Schiff-positive lipoproteinaceous...
Pulmonary alveolar proteinosis is a very rare diffuse lung disease characterized by the accumulation of amorphous and periodic acid Schiff-positive lipoproteinaceous material in the alveolar spaces due to impaired surfactant clearance by alveolar macrophages. Three main types were identified: Autoimmune, secondary and congenital. Pulmonary alveolar proteinosis has been previously reported to be associated with several systemic auto-immune diseases. Accordingly, we present the first case report of pulmonary alveolar proteinosis associated with myasthenia gravis. A 27-year-old female patient, ex-smoker, developed a dyspnea on exertion in 2020. The chest X-ray detected diffuse symmetric alveolar opacities. Pulmonary infection was ruled out, particularly COVID-19 infection. The chest scan revealed the "crazy paving" pattern. The bronchoalveolar lavage showed a rosy liquid with granular acellular eosinophilic material Periodic acid-Schiff positive. According to the lung biopsy results, she was diagnosed with pulmonary alveolar proteinosis. The granulocyte macrophage colony-stimulating factor autoantibodies were negative. Nine months later, she was diagnosed with bulbar seronegative myasthenia gravis, confirmed with the electroneuromyography with repetitive nerve stimulation showing significant amplitude decrement of the trapezius and spinal muscles. She was treated with pyridostigmine, oral corticosteroids and azathioprine. Given the worsening respiratory condition of the patient, a bilateral whole lung lavage was performed with a partial resolution of symptoms. Thus, this previously unreported association was treated successfully with rituximab, including improvement of dyspnea, diplopia and muscle fatigability at six months of follow-up. This case emphasizes on the possible association of auto-immune disease to PAP, which could worsen the disease course, as the specific treatment does not exist yet. Hence, further studies are needed to establish clear-cut guidelines for PAP management, particularly when associated to auto-immune diseases.
Topics: Humans; Pulmonary Alveolar Proteinosis; Female; Adult; Myasthenia Gravis
PubMed: 38779463
DOI: 10.12688/f1000research.127299.2 -
The Journal of International Medical... May 2024Autoimmune encephalitis (AIE) is a rapid, progressive neurological disorder characterized by nervous system inflammation. While the Graus criteria are the best known... (Review)
Review
Autoimmune encephalitis (AIE) is a rapid, progressive neurological disorder characterized by nervous system inflammation. While the Graus criteria are the best known criteria for AIE diagnosis, other differential diagnoses meeting the Graus criteria must be considered before management. This narrative review discusses the most common etiologies that resemble AIE. We suggest routine exclusion of mimickers meeting the Graus criteria before confirming an AIE diagnosis. We reviewed 28 studies including 356 patients. The main initial diagnosis was AIE, then paraneoplastic limbic encephalitis and anti-N-methyl-D-aspartate receptor encephalitis. Only 194 patients met the possible Graus criteria. The most frequent conditions among the total population were dementia, other neurodegenerative diseases, and psychiatric and functional neurological disorders. AIE is often misdiagnosed, leading to unnecessary treatment. Despite publication of the Graus criteria, medical cases mimicking this condition are being published. Many neurological diseases entering the differential diagnosis of AIE could be excluded through a detailed history, neurological examination, laboratory analysis, and other investigations, including cerebrospinal fluid and brain magnetic resonance imaging. However, some differential diagnoses complied with the possible Graus criteria, with some having concurrent antineuronal antibodies, which were considered true mimickers. AIE diagnosis suspicion is primarily clinical, but a definitive diagnosis requires various diagnostic tools.
Topics: Humans; Diagnosis, Differential; Encephalitis; Hashimoto Disease; Magnetic Resonance Imaging; Limbic Encephalitis; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Autoantibodies
PubMed: 38775376
DOI: 10.1177/03000605241248050 -
Neurology(R) Neuroimmunology &... Jul 2024A positive allosteric modulator of the NMDAR, SGE-301, has been shown to reverse the alterations caused by the antibodies of patients with anti-NMDAR encephalitis...
OBJECTIVES
A positive allosteric modulator of the NMDAR, SGE-301, has been shown to reverse the alterations caused by the antibodies of patients with anti-NMDAR encephalitis (NMDARe). However, the mechanisms involved beyond receptor modulation are unclear. In this study, we aimed to investigate how this modulator affects NMDAR membrane dynamics.
METHODS
Cultured hippocampal neurons were treated with SGE-301 or vehicle, alongside with immunoglobulins G (IgG) from patients with NMDARe or healthy controls. NMDAR surface dynamics were assessed with single-molecule imaging by photoactivated localization microscopy.
RESULTS
NMDAR trajectories from neurons treated with SGE-301 were less confinement, with increased diffusion coefficients. This effect mainly occurred at synapses because extrasynaptic diffusion and confinement were minimally affected by SGE-301. Treatment with patients' IgG reduced NMDAR surface dynamics and increased their confinement. Remarkably, SGE-301 incubation antagonized patients' IgG effects in both synaptic and extrasynaptic membrane compartments, restoring diffusion and confinement values similar to those from neurons exposed to control IgG.
DISCUSSION
We demonstrate that SGE-301 upregulates NMDAR surface diffusion and antagonizes the pathogenic effects of patients' IgG on NMDAR membrane organization. These findings suggest a potential therapeutic strategy for NMDARe.
Topics: Humans; Hippocampus; Receptors, N-Methyl-D-Aspartate; Animals; Neurons; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Immunoglobulin G; Allosteric Regulation; Cells, Cultured; Autoantibodies; Female; Male; Rats; Adult; Single Molecule Imaging
PubMed: 38771989
DOI: 10.1212/NXI.0000000000200261 -
Journal of Investigative Medicine High... 2024Cutaneous paraneoplastic syndromes due to Hodgkin lymphoma present with a wide spectrum of clinical manifestations from generalized pruritus to exfoliative erythroderma....
Cutaneous paraneoplastic syndromes due to Hodgkin lymphoma present with a wide spectrum of clinical manifestations from generalized pruritus to exfoliative erythroderma. We summarize the clinical findings and outcomes of 14 patients with Hodgkin lymphoma and associated cutaneous paraneoplastic syndromes treated at Mayo Clinic over the past 3 decades. Cutaneous paraneoplastic syndromes may be present at the time of lymphoma diagnosis, whereas in other patients, it may appear at the time of relapse, including patients with initial absence of cutaneous manifestations during the initial lymphoma presentation. Our results indicate that complete resolution of the paraneoplastic syndrome is associated with significantly improved overall survival. Recognition of cutaneous paraneoplastic syndromes is a crucial surrogate of relapsed malignancy and treatment requires targeting the underlying malignancy.
Topics: Humans; Hodgkin Disease; Paraneoplastic Syndromes; Male; Female; Middle Aged; Adult; Aged; Young Adult; Skin Diseases; Adolescent
PubMed: 38767173
DOI: 10.1177/23247096241255840