The psychiatric symptoms in anti-IgLON5 disease: Case report and literature review.
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ABSTRACT:
SUBMITTER: Luo Y
PROVIDER: S-EPMC10784753 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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The psychiatric symptoms in anti-IgLON5 disease: Case report and literature review.
Luo Yuanyuan Y Xiao Jun J Li Jieying J
Clinical case reports 20240112 1
Immunotherapy may be ineffective in the advanced stages of anti-IgLON5 disease with psychiatric symptoms. The psychiatric symptoms in advanced stages of anti-IgLON5 disease may be associated with neurodegeneration. ...[more]
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Project description:Background and objectiveAnti-IgLON5 disease is an uncommon neurological disorder characterized by diverse clinical manifestations. Although many relevant cases have been reported, our understanding of this disorder is still quite restricted. We present a rare case of anti-IgLON5 disease and performed a comprehensive systematic review of all published cases to expand the clinical spectrum of this disorder.MethodsWe report a 61-year-old woman with an atypical presentation of epileptic seizures with abnormal signals in her right hippocampus on brain magnetic resonance imaging (MRI). A systematic review was performed of electronic databases, including PubMed, EMBASE, China National Knowledge Infrastructure (CNKI), WanFang and VIP China Science.ResultsWe identified 161 cases from 65 publications. With heterogeneous clinical manifestations, we found that bulbar dysfunction, sleep apnea, gait instability and neurocognitive and behavioral symptoms are the most common symptoms of anti-IgLON5 disease. Anti-IgLON5 antibodies presented a higher positive rate and titer in the serum than in the cerebrospinal fluid (CSF). Haplotype DRB1*10:01-DQB1*05:01 is highly correlated with anti-IgLON5 disease. Only 38 patients have presented distinctive MRI alterations (26.2%). Approximately half of the cases are responsive to immunosuppressive or immunomodulatory treatment.ConclusionAnti-IgLON5 disease is characterized by various clinical manifestations and laboratory findings. Immunotherapy may be effective in treating anti-IgLON5 disease, but the results are far from satisfactory. Studies with larger sample sizes are required to improve the current understanding of this disorder.
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Project description:Background: Anti-IgLON5 disease is a novel disorder with a complex interplay between inflammation and neurodegeneration. Patients develop antibodies against IgLON5 but also deposition of neuronal tau protein. Symptoms often have an insidious onset, slow progression and mimic other neurological disorders. Here we report a case with severely prolonged 11-year disease course and provide a review of current reported cases with focus on presentation, work-up, treatment, and outcome. Method: All reported cases of anti-IgLON5 disease were evaluated. Cases reported twice (in case series and as single case reports), were carefully excluded. Results: Most patients display a characteristic sleep disorder with severe insomnia, non rapid eye movement (NREM) parasomnia, with finalistic movements and sleep disordered breathing (stridor and obstructive sleep apnea). Other symptoms are bulbar involvement, gait instability, movement disorders, oculomotor abnormalities, dysautonomia, and peripheral symptoms. Antibodies are present in both serum and CSF and there is a strong correlation with human leukocyte antigen (HLA) DRB1*10:01 and HLA-DQB1*05:01. Neuropathological examination reveals neurodegeneration with neuronal tau deposits in regions that correlate with the clinical presentation (e.g., predominantly hypothalamus and tegmentum of the brain stem). Majority of cases respond partially to immunotherapy. Cases, who received no treatment or treatment with IV corticosteroids alone, had a higher mortality than cases treated with more potent immunotherapy. Conclusion: The clinical spectrum of Anti-IgLON5 disease continues to expand. Further studies are needed to elucidate the pathophysiology, therapeutic strategies and outcome in this novel disorder. Aggressive immunotherapy seems to increase survival.
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Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Anti-IgLON family member 5 (IgLON5) disease is a rare autoimmune encephalitis, characterized by sleep problems, cognitive decline, gait abnormalities, and bulbar dysfunction. Anti-leucine-rich glioma-inactivated 1 (LGI1) autoimmune encephalitis is characterized by cognitive dysfunction, mental disorders, faciobrachial dystonic seizures (FBDS), and hyponatremia. Various studies report that coronavirus disease 2019 (COVID-19) have an effect on the nervous system and induce a wide range of neurological symptoms. Autoimmune encephalitis is one of the neurological complications in severe acute respiratory syndrome coronavirus 2 infection. Until now, autoimmune encephalitis with both anti-IgLON5 and anti-LGI1 receptor antibodies following COVID-19 is rarely reported. The case report described a 40-year-old man who presented with sleep behavior disorder, daytime sleepiness, paramnesia, cognitive decline, FBDS, and anxiety following COVID-19. Anti-IgLON5 and anti-LGI1 receptor antibodies were positive in serum, and anti-LGI1 receptor antibodies were positive in cerebrospinal fluid. The patient presented with typical symptoms of anti-IgLON5 disease such as sleep behavior disorder, obstructive sleep apnea, and daytime sleepiness. Moreover, he presented with FBDS, which is common in anti-LGI1 encephalitis. Therefore, the patient was diagnosed with anti-IgLON5 disease and anti-LGI1 autoimmune encephalitis. The patient turned better after high-dose steroid and mycophenolate mofetil therapy. The case serves to increase the awareness of rare autoimmune encephalitis after COVID-19.
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Project description:BackgroundAnti-IgLON5 disease is a relatively rare autoimmune disease of the nervous system. The clinical course of this disease is generally chronic and progressive, exhibiting heterogeneity in clinical presentation and the lack of specific imaging features. We now report a case of a Anti-IgLON5 antibody-positive patient demonstrated two distinctive features. Firstly, the onset was marked by acute encephalopathy symptoms, including fever, with consciousness disturbance as the initial manifestation. Secondly, imaging studies revealed multiple lesions within the meninges and intracranial regions, characterized by extensive thickening and enhancement of the dura mater.Case presentationA previously healthy 78-year-old male patient presented with impaired consciousness and was admitted to the hospital. Brain MRI demonstrated abnormal signal located in the bilateral basal ganglia, frontal and parietal lobes. Post-contrast enhancement demonstrated thickening and enhancement of the dura mater in the bilateral frontal regions, along with mild enhancementin the cortical areas of the bilateral temporal lobes. Cerebrospinal fluid (CSF) analysis indicated the presence of oligoclonal bands in both serum and CSF, with a higher count in the CSF compared to serum. IgG antibodies against IgLON5 were detected in serum and CSF at a titer of 1:100. CSF concentrations of total Tau protein (t-Tau) and phosphorylated Tau protein (p-Tau) were normal. In conjunction with a positive serum and CSF IgLON5 antibody and exclusion of other diseases, diagnosis of anti-IgLON5 disease was made. Symptoms resolved completely after intravenous methylprednisolone and immunoglobulin therapy were administered. At 3-week follow-up the small patchy abnormal signal in the bilateral basal ganglia, frontal and parietal lobes have resolved. Additionally, post-contrast imaging reveals the absence of the previously noted abnormal dural enhancement. and there was no recurrence 18 months after the onset of the disease.ConclusionsAnti-IgLON5 disease is a heterogeneous disorder characterized by a wide spectrum of clinical manifestations. IgLON5 encephalopathy characterized mainly by symptoms of acute neurological symptoms and MRI evidence of meningeal enhancement has not been reported previously. The appropriate diagnostic strategy should encompass a thorough clinical evaluation, testing for anti-IgLON5 antibodies in both CSF and serum, as well as HLA genotyping. Timely diagnosis and early Intravenous methylprednisolone and/or IVIG therapy are beneficial in improving prognosis and preventing recurrence.
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Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
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Project description:RationaleAnti-IgLON5 disease is a complex neurological illness which is characterized by progressive sleep and movement disorders and defined by specific autoantibodies to IgLON5. We here describe the first case of a patient with coexisting anti-IgLON5 as well as anti-γ-aminobutyric acid B (GABAB)-receptor antibodies and predominant clinical features of anti-IgLON5 disease.Patient concernsThe patient initially presented with subacute symptoms of severe sleep disorder, gait stability, dysarthria, cognitive impairment, depressive episode and hallucinations.DiagnosesThe patient was diagnosed with autoimmune encephalitis, based on clinical features and positive anti-IgLON5 antibodies in serum as well as in cerebrospinal fluid and anti-GABAB-receptor antibodies in serum only.InterventionsInitially, the patient was treated with high dosages of methylprednisolone and subsequently with plasmapheresis. Due to the lack of clinical improvement immunosuppressive treatment with intravenous cyclophosphamide was initiated.OutcomesFollowing the first year of cyclophosphamide treatment, neurological examination revealed an improvement in gait instability, visual and acoustic hallucinations and sleep disorder.LessonsThe case report demonstrates that anti-IgLON5 and anti-GABAB-receptor antibodies can coexist in the same patient whereas clinical leading symptoms are determined by those antibodies that were tested positive in cerebrospinal fluid.
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Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
2017-03-24 | GSE96980 | GEO
Project description:ObjectiveAnti-IgLON5 disease is a rare autoimmune mediated disease. It is mainly featured by sleep-related disturbance, parkinsonism, chorea and limb ataxia. Previous studies had clarified its clinical manifestations and predisposing genes. However, as far as we know, anti-IgLON5 disease combined with paraneoplastic cerebellar degeneration (PCD) with the detection of anti-Sulfatide IgG antibody, masquerading as meningoencephalitis had not been reported before.Case presentationA 57-year-old Chinese female presented with walking unsteadily for 12 days and logagnosia for 2 days and was admitted to our hospital. She had a past history of breast cancer. Magnetic resonance imaging (MRI) revealed leptomeningeal enhancement (prominent in cerebellar hemisphere). Arterial spin labeling (ASL) perfusion showed hyperperfusion in the cerebellar hemisphere and interhemispheric fissure cistern. MRI and ASL indicated the diagnosis was meningoencephalitis. However, IgG anti-IgLON5 antibody was positive in both serum and cerebrospinal fluid. Therefore, the diagnosis was anti-IgLON5 disease. In addition, the patient combined with PCD due to positive anti-Yo-antibody in serum fluid .ConclusionsWhereas sleep disturbance is the most common feature in patients with anti-IgLON5 disease, our case presented with walking unsteadily and logagnosia. Anti-IgLON5 disease combined with PCD with the detection of anti-Sulfatide IgG antibody, masquerading as meningoencephalitis is very rare. Therefore, if meningoencephalitis did not recover with conventional treatment, anti-IgLON5 disease and PCD should be considered as the differential diagnosis.
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