Neuroimmunology Reports最新文献_第5页

Approach to Anti-MuSK Myasthenia gravis: The ultimate mimicker 抗MuSK重症肌无力的方法：终极模仿者

Neuroimmunology Reports Pub Date : 2023-10-14 DOI: 10.1016/j.nerep.2023.100189

Abeer Sabry Safan , Nadir Kharma , Beatriz Canibaño , Mohammed Al-Hatou

{"title":"Approach to Anti-MuSK Myasthenia gravis: The ultimate mimicker","authors":"Abeer Sabry Safan , Nadir Kharma , Beatriz Canibaño , Mohammed Al-Hatou","doi":"10.1016/j.nerep.2023.100189","DOIUrl":"https://doi.org/10.1016/j.nerep.2023.100189","url":null,"abstract":"<div><h3>Background</h3><p>Anti-Muscle-specific tyrosine kinase – Myasthenia gravis (MuSK-MG) is a rare neuromuscular junction (NMJ) disease subtype with variable clinical presentation and often atypical electromyography findings. While amyotrophic lateral sclerosis (ALS) can present with respiratory failure, its median respiratory insufficiency onset is estimated at six months from the onset of diagnosis, with variability predicted by baseline functional vital capacity (FVC) and bulbar onset-ALS. Anti-MuSK-MG presentation with the predominately irritable myopathic diaphragm is rarely reported.</p></div><div><h3>Clinical presentation</h3><p>We report a case of Anti-MuSK-MG presenting with persistent respiratory insufficiency and bulbar dysfunction initially misdiagnosed as bulbar-type ALS due to bulbar findings and tongue atrophy. Electromyography (EMG) and single fiber EMG (SFEMG) defied former diagnosis (ALS) with findings of asymmetrical right ulnar and spinal accessory decrements on slow rate repetitive nerve stimulation (RNS), abnormal jitter on SFEMG, and irritable myopathy pattern of the diaphragm and proximal muscles. The serology marker is positive for Anti-MuSK Antibody, and negative AhCR anti-body. With supportive care and Rituximab, the patient's bulbar and respiratory function gradually improved.</p></div><div><h3>Conclusions</h3><p>Anti<strong>-</strong>MusK-MG presenting with persistent respiratory insufficiency has been reported with atypical electromyography findings of myopathy and denervation. We report an intriguing case of MuSK-MG with irritable diaphragm myopathy pattern presenting with myasthenic crisis mimicking bulbar subtype ALS.</p></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"4 ","pages":"Article 100189"},"PeriodicalIF":0.0,"publicationDate":"2023-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50193890","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}

引用次数: 0

Tumefactive demyelinating lesion due to neuromyelitis optica spectrum disorder: Successful relapse prevention with eculizumab 视神经脊髓炎谱系障碍引起的肿瘤性脱髓鞘病变：埃库珠单抗成功预防复发

Neuroimmunology Reports Pub Date : 2023-09-17 DOI: 10.1016/j.nerep.2023.100188

Kimberly A. O'Neill , Ukuemi Edema , Lauren Gluck

引用次数: 0

CADASIL progression after neurologic infectious insults: Case report of a new pathogenic NOTCH3 mutation 神经系统感染性损伤后CADASIL进展：一例新的致病性NOTCH3突变病例报告

Neuroimmunology Reports Pub Date : 2023-09-17 DOI: 10.1016/j.nerep.2023.100186

Kelli M. Money , Jamie Cronin , Amy Guimaraes-Young , Aaron Carlson , Mark A. Lovell , Elizabeth Matthews , Karen D. Orjuela , Daniel M. Pastula , Eric P. Wartchow , Amanda L. Piquet

{"title":"CADASIL progression after neurologic infectious insults: Case report of a new pathogenic NOTCH3 mutation","authors":"Kelli M. Money , Jamie Cronin , Amy Guimaraes-Young , Aaron Carlson , Mark A. Lovell , Elizabeth Matthews , Karen D. Orjuela , Daniel M. Pastula , Eric P. Wartchow , Amanda L. Piquet","doi":"10.1016/j.nerep.2023.100186","DOIUrl":"https://doi.org/10.1016/j.nerep.2023.100186","url":null,"abstract":"<div><h3>Background</h3><p>Cerebral autosomal dominant arteriopathy with subcortical infarcts (CADASIL) is the most common monogenic inherited small vessel disease. Autoimmune disorders, including multiple sclerosis, have been documented to co-exist with CADASIL, which can complicate the initial recognition. Inflammatory insults have been suggested to be associated with disease progression with SARS-CoV-2 infection.</p></div><div><h3>Case Report</h3><p>We present a case of a white woman in her 50 s who demonstrated progressive white matter changes with initial demyelinating characteristics in 2010. Their course was notable for accelerated progression after multiple central nervous system insults, including herpes simplex virus (HSV) encephalitis in 2017, suspected post-infectious autoimmune encephalitis in 2018, and neuroinvasive West Nile virus (WNV) infection with confirmed para-infectious NMDA receptor encephalitis in 2022. CADASIL was suspected given confluent anterior temporal and external capsule white matter changes. She was found to have a novel <em>NOTCH3</em> missense mutation in exon 3 (c.313T>C, p.(Ser105Pro)), and electron microscopy of a skin biopsy demonstrated granular osmiophilic material deposits diagnostic of CADASIL.</p></div><div><h3>Conclusion</h3><p>This case demonstrates a novel pathogenic <em>NOTCH3</em> mutation as well as the complexity of CADASIL diagnosis in the setting of possible concomitant demyelinating disease and other central nervous system insults. Significant phenotypic variability and overlapping acquired pathologies can make CADASIL recognition difficult. Given precipitous decline with each central nervous system insult in this case, we suspect these events hastened CADASIL progression.</p></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"4 ","pages":"Article 100186"},"PeriodicalIF":0.0,"publicationDate":"2023-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50193891","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}

引用次数: 0

Heart rate variability analysis of electrocardiography in pediatric immune-mediated autonomic neuropathy 儿童免疫介导的自主神经病变心电图的心率变异性分析

Neuroimmunology Reports Pub Date : 2023-09-17 DOI: 10.1016/j.nerep.2023.100187

Masafumi Sanefuji , Toshiyuki Maeda , Takashi Kumamoto , Yoshiyasu Ogata , Fumio Ichinose , Takuji Nakamura , Hiroto Doi , Shunya Nakane , Muneaki Matsuo

{"title":"Heart rate variability analysis of electrocardiography in pediatric immune-mediated autonomic neuropathy","authors":"Masafumi Sanefuji , Toshiyuki Maeda , Takashi Kumamoto , Yoshiyasu Ogata , Fumio Ichinose , Takuji Nakamura , Hiroto Doi , Shunya Nakane , Muneaki Matsuo","doi":"10.1016/j.nerep.2023.100187","DOIUrl":"https://doi.org/10.1016/j.nerep.2023.100187","url":null,"abstract":"<div><h3>Introduction</h3><p>Immune-mediated autonomic neuropathies are difficult to diagnose in childhood because of the extreme rarity, nonspecific symptoms, and infrequent detection of autoantibodies specific to the disorders. There is a need for objective testing methods that are easily applicable to pediatric patients.</p></div><div><h3>Description of case series</h3><p>Case 1 was a 13-year-old boy who showed autonomic symptoms of fatigue, tachycardia, and hypertension with sensorimotor impairments, including diminished tendon reflexes, delayed nerve conduction, and enhanced peripheral nerves on MRI. Case 2 was a 9-year-old boy who exhibited autonomic signs of postural orthostatic tachycardia with no abnormalities in a nerve conduction test and MRI but decreased heart rate variability (HRV) on conventional electrocardiography (ECG). Case 3 was a 14-year-old girl with autonomic symptoms of hypohidrosis, constipation, and coughing episodes, with alteration of various HRV metrics on 24-hour Holter ECG. Although serum autoantibodies to ganglionic acetylcholine receptor were not detected in any patients, intravenous immunoglobulin therapy was effective in all cases, suggesting immune-mediated mechanisms.</p></div><div><h3>Conclusion</h3><p>In the latter two patients, the diagnosis of immune-mediated autonomic neuropathies was underscored by HRV on ECG, especially 24-hour Holter ECG. Further studies are required to establish its clinical significance.</p></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"4 ","pages":"Article 100187"},"PeriodicalIF":0.0,"publicationDate":"2023-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50193889","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}

引用次数: 0

A case of stress cardiomyopathy (Takotsubo syndrome) associated with neuromyelitis optica spectrum disorder (NMOSD) 一例应激性心肌病（Takotsubo综合征）伴视神经脊髓炎谱系障碍（NMOSD）

Neuroimmunology Reports Pub Date : 2023-09-09 DOI: 10.1016/j.nerep.2023.100185

Rezafarhad Manteghifasaei, Mohammad Ali Arami

引用次数: 0

Successful treatment of refractory MOG-IgG-associated disease with ofatumumab: A first case report 奥法单抗成功治疗难治性MOG-IgG相关疾病：一例报告

Neuroimmunology Reports Pub Date : 2023-09-09 DOI: 10.1016/j.nerep.2023.100183

Hao Chen , Yu Zhou , Mengjie Zhang , WenJuan Gong , Yingxiong Xiong , Bo Wang , Yiyi Zhou , Jin Chen , Xiaomu Wu , Daojun Hong

{"title":"Successful treatment of refractory MOG-IgG-associated disease with ofatumumab: A first case report","authors":"Hao Chen , Yu Zhou , Mengjie Zhang , WenJuan Gong , Yingxiong Xiong , Bo Wang , Yiyi Zhou , Jin Chen , Xiaomu Wu , Daojun Hong","doi":"10.1016/j.nerep.2023.100183","DOIUrl":"https://doi.org/10.1016/j.nerep.2023.100183","url":null,"abstract":"<div><h3>Background</h3><p>Myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently identified and recurrent inflammatory demyelinating disease of the central nervous system (CNS) in both adults and children. Although MOGAD acute attacks usually appear to be very responsive to high dose steroids and plasma exchange, the long-term side effects of steroids should be highlighted especially in children. Attack-prevention treatments also lack of class-I evidence and prospective randomized placebo-controlled trials are needed to better guide prevention treatment in refractory cases. Long-term immunosuppressive maintenance with mycophenolate mofetil, azathioprine or rituximab may not always effective in patients experienced recurrent demyelinating attacks.</p></div><div><h3>Case presentation</h3><p>We reported a rare case of 17-year-old MOGAD patient who experienced eleven relapses with azathioprine, mycophenolate mofetil and rituximab in five years, and finally effectively treated with ofatumumab (OFA), a novel fully humanized anti-CD20 mAb.</p></div><div><h3>Conclusions</h3><p>Timely and efficient treatment is crucial for better prognosis in refractory MOGAD. The fully humanized OFA may be an optimal choice if multiple therapeutic drugs fail to achieve remission. Further research on comparing OFA and RTX in MOG patient is needed.</p></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"4 ","pages":"Article 100183"},"PeriodicalIF":0.0,"publicationDate":"2023-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50193927","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}

引用次数: 0

Diaphragmatic pacing for neurogenic respiratory failure in neuromyelitis optica spectrum disorder: A case series 膈肌起搏治疗视神经脊髓炎谱系障碍的神经源性呼吸衰竭：一系列病例

Neuroimmunology Reports Pub Date : 2023-09-03 DOI: 10.1016/j.nerep.2023.100184

Hannah Kelly , Hesham Abboud , Alessandro Serra , Mary Jo Elmo , Raymond Onders

引用次数: 0

Treatment of recurrent VZV myelitis with intravenous immunoglobulin 静脉注射免疫球蛋白治疗复发性VZV脊髓炎

Neuroimmunology Reports Pub Date : 2023-08-29 DOI: 10.1016/j.nerep.2023.100181

Danelvis Paredes, Elijah Lackey, Christopher Eckstein

{"title":"Treatment of recurrent VZV myelitis with intravenous immunoglobulin","authors":"Danelvis Paredes, Elijah Lackey, Christopher Eckstein","doi":"10.1016/j.nerep.2023.100181","DOIUrl":"https://doi.org/10.1016/j.nerep.2023.100181","url":null,"abstract":"<div><h3>Background</h3><p>VZV myelitis is a rare and typically monophasic complication of VZV reactivation. There is no solid evidence for a particular treatment regimen for VZV myelitis, especially in recurrent disease. No prior reports or studies have looked at using intravenous immunoglobulin for this condition, particularly for refractory cases.</p></div><div><h3>Case report</h3><p>A 75-year-old female presented with paresthesia on the right lateral leg, followed by a vesicular rash in a T2 dermatomal distribution. Over a period of 2 weeks, she experienced bilateral lower extremity weakness. MRI revealed a C3-C6 enhancing lesion. VZV positivity was confirmed by skin biopsy. She was treated with 5 days of Solumedrol 1gm IV and valacyclovir 1gm TID with improvement of weakness and rash. However, over the next two years, she continued to get occasional disseminated vesicular rash with each flare of her myelitis despite continued valacyclovir. She was started on monthly IV Ig (1gm/kg IV Ig over 2 days) for her recurrent myelitis. Since starting monthly IV Ig there have been no further zoster outbreaks or episodes of myelitis. Her balance and gait have improved significantly.</p></div><div><h3>Conclusion</h3><p>We present an unusual case of recurrent disseminated zoster with myelitis successfully treated with monthly IV Ig. The successful treatment of this patient should prompt consideration for its use in similar cases of recurrent VZV myelitis and may provide insight for future studies on how to treat VZV-related diseases.</p></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"4 ","pages":"Article 100181"},"PeriodicalIF":0.0,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50193894","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}

引用次数: 0

Anti-N-methyl-d-aspartate receptor encephalitis in a patient on long-term continuous immunomodulatory therapy 一例长期持续免疫调节治疗的抗N-甲基-d-天冬氨酸受体脑炎患者

Neuroimmunology Reports Pub Date : 2023-08-28 DOI: 10.1016/j.nerep.2023.100182

Lina M. Ariza-Serrano , Nicole Andrea Gómez Perdomo , Antonio Schlesinger , Manuel Tapias , Steven Hurtado

{"title":"Anti-N-methyl-d-aspartate receptor encephalitis in a patient on long-term continuous immunomodulatory therapy","authors":"Lina M. Ariza-Serrano , Nicole Andrea Gómez Perdomo , Antonio Schlesinger , Manuel Tapias , Steven Hurtado","doi":"10.1016/j.nerep.2023.100182","DOIUrl":"https://doi.org/10.1016/j.nerep.2023.100182","url":null,"abstract":"<div><h3>Background</h3><p>Anti-N-methyl-<span>d</span>-aspartate [anti-NMDA] receptor encephalitis is one of the most common types of immune-mediated encephalitis. It is characterized by a neuropsychiatric syndrome associated with immunoglobulin G [IgG]-type antibodies against the NMDA receptor's GluN1 subunit in cerebrospinal fluid [CSF]. To our Knowledge, only six cases of autoimmune encephalitis with positive CSF NMDA receptor IgG autoantibodies have been reported among patients on long-term immunosuppressive therapies. The etiologies of all six cases were related to solid organ transplantation. Therefore, this report is the first to present a case of immunosuppression associated with an etiology other than post-transplant immunosuppression.</p></div><div><h3>Case presentation</h3><p>We present the case of a 59-year-old female patient who was on a long-term continuous immunomodulatory therapy for rheumatoid arthritis, and she consulted the emergency department several times for headache, symptoms of neurologic deficit, and subsequent progression to neuropsychiatric symptoms. CSF examination of the patient confirmed the presence of antibodies against the NMDA receptor; hence, the diagnosis of anti-NMDA receptor encephalitis was made.</p></div><div><h3>Conclusions</h3><p>It is important to recognize the clinical features of autoimmune encephalitis and to consider this condition in the differential diagnosis when neuropsychiatric symptoms are manifested in such patients. Patients on long-term immunomodulatory therapy present with atypical manifestations of anti-NMDA receptor encephalitis. The consideration of these manifestations in the differential diagnosis can ensure efficient diagnosis, management, and reduction in the consequences affecting morbidity and mortality of these patients.</p></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"4 ","pages":"Article 100182"},"PeriodicalIF":0.0,"publicationDate":"2023-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50193887","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}

引用次数: 0

Severe motor sensory axonal polyneuropathy in a patient with eosinophilic granulomatosis with polyangiitis post COVID-19 vaccination: Case report 新冠肺炎疫苗接种后一例嗜酸性肉芽肿伴多血管炎患者的严重运动感觉轴突多发性神经病：病例报告

Neuroimmunology Reports Pub Date : 2023-08-19 DOI: 10.1016/j.nerep.2023.100180

Joyce Chen , Cameron T. Landers , Chunyu Cai , Gregory S Carter

引用次数: 0