paraneoplastic syndrome

副肿瘤综合征
  • 文章类型: Journal Article
    恶性腹膜间皮瘤(MPM)是一种罕见的侵袭性肿瘤,一些患者在病程中会出现副肿瘤综合征(PS)。这篇综述总结了与MPM相关的PS,关注血液学的临床特点和治疗进展,内分泌,风湿病,神经学,泌尿,和其他系统,以减少漏诊和误诊,有助于早期诊断和及时治疗,为该类患者的临床决策提供指导。
    Malignant peritoneal mesothelioma (MPM) is a rare and invasive tumor, and some patients will develop paraneoplastic syndrome (PS) during the course of the disease. This review summarizes PS associated with MPM, focusing on the clinical characteristics and treatment progress in hematological, endocrine, rheumatic, neurological, urinary, and other systems to decrease missed diagnosis and misdiagnosis, help early diagnosis and prompt treatment, and provide guidance for the clinical decision-making of this kind of patients.
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  • 文章类型: Case Reports
    库欣综合征(CS),由于异位促肾上腺皮质激素(ACTH)的产生,构成各种恶性肿瘤的常见副肿瘤表现,最常见的是小细胞肺癌。在文学中,有文献记载,异位CS与前列腺癌相关的病例不到50例.在本研究中,报道一例76岁男性患有去势抵抗性前列腺腺癌,过去4年接受恩杂鲁胺和促黄体生成素释放激素(LHRH)类似物治疗.患者出现下肢肌无力到急诊科就诊,缓血球和低钾血症。经过全面的诊断评估,确定了高皮质醇血症。低剂量和高剂量地塞米松攻击后无抑制,皮质醇24h排泄增加和正常的垂体磁共振成像导致异位CS的诊断。立即靶向治疗开始与肾上腺类固醇生成抑制剂,包括甲吡酮和酮康唑以及多西他赛和泼尼松龙的化疗。几天之内皮质醇水平显着下降,不再需要住院治疗。患者成功完成了三个周期的化疗;不幸的是,他在诊断为异位CS后三个月内死亡。在本研究中,我们回顾了所有现有的与前列腺癌相关的副肿瘤CS病例。本研究的目的是强调对该实体进行早期诊断和治疗的必要性,因为它可能具有非典型的临床发现,并可能演变成危及生命的状况。
    Cushing\'s syndrome (CS), as a result of ectopic adrenocorticotropic hormone (ACTH) production, constitutes a common paraneoplastic manifestation of various malignancies, with the most common being small cell lung carcinoma. In the literature, fewer than fifty cases associating ectopic CS with prostate cancer have been documented. In the present study, the case of a 76-year old man suffering from castration-resistant prostate adenocarcinoma that had been treated with enzalutamide and luteinizing hormone-releasing hormone (LHRH) analogue for the last four years is presented. The patient presented to the emergency department with lower extremity muscle weakness, bradypsychia and hypokalemia. Following a thorough diagnostic evaluation, hypercortisolemia was identified. No suppression after low- and high-dose dexamethasone challenge, increased cortisol 24 h excretion and normal pituitary magnetic resonance imaging led to the diagnosis of ectopic CS. Immediate targeted therapy was initiated with adrenal steroidogenesis inhibitors, including metyrapone and ketoconazole along with chemotherapy with docetaxel and prednisolone. There was a remarkable decrease in cortisol levels within days and hospitalization was no longer required. The patient managed to complete three cycles of chemotherapy; unfortunately, he succumbed within three months of the diagnosis of ectopic CS. In the present study, all existing cases of paraneoplastic CS related to prostate cancer are reviewed. The aim of the current study was to highlight the need of early diagnosis and treatment of this entity as it may present with atypical clinical findings and potentially evolve to a life-threatening condition.
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  • 文章类型: Systematic Review
    背景:肾病综合征(NS)可以作为与各种类型癌症相关的副肿瘤疾病发生。然而,副肿瘤肾病综合征(PNS)常被误诊为特发性肾病综合征或肿瘤治疗的不良反应,导致诊断延迟和治疗欠佳。与实体恶性肿瘤相关的NS的特征尚未阐明。我们系统总结了128例NS合并实体恶性肿瘤的临床资料,旨在告知PNS的临床处理。
    方法:我们在PubMed数据库中搜索了从开始之日到2023年10月发表的文章,使用以下关键词:“癌症”或“恶性肿瘤”或“瘤形成”或“肿瘤”和“肾病综合征”,“肾病”或“综合征”,肾病\“。所有数据均来自病例报告和病例系列,并且提取包括用于识别个体水平的患者数据的方法。
    结果:通过文献检索,发现了105例PNS和23例因癌症治疗引起的NS。诊断时的中位年龄为60岁,男女比例为1.8:1。在PNS患者中,以前发生过NS的表现,同时,或在诊断出肿瘤后(36%,30%,34%的病例,分别)。膜性肾病(49%)是最常见的肾脏病理,特别是在肺部患者中发现。结直肠,或者乳腺癌.不管是单独治疗还是与NS联合治疗,缓解的可能性很高.
    结论:NS的病理类型可能与PNS患者的特定恶性肿瘤有关。PNS的迅速识别以及适当的治疗干预对患者的预后有重大影响。
    BACKGROUND: Nephrotic syndrome (NS) can occur as a paraneoplastic disorder in association with various types of carcinoma. However, paraneoplastic nephrotic syndrome (PNS) is often misdiagnosed as idiopathic nephrotic syndrome or as an adverse effect of oncology treatment, leading to delayed diagnosis and suboptimal treatment. The characteristics of NS associated with solid malignancies are not yet elucidated. We systematically summarized the clinical data for 128 cases of NS combined with solid malignancies with the aim of informing the clinical management of PNS.
    METHODS: We searched the PubMed database for articles published from the date of inception through to October 2023 using the following keywords: \"cancer\" or \"malignant neoplasms\" or \"neoplasia\" or \"tumors\" and \"nephrotic syndrome\", \"nephrotic\" or \"syndrome, nephrotic\". All data were extracted from case reports and case series, and the extraction included a method for identifying individual-level patient data.
    RESULTS: A literature search yielded 105 cases of PNS and 23 of NS induced by cancer therapy. The median age at diagnosis was 60 years, with a male to female ratio of 1.8:1. In patients with PNS, manifestations of NS occurred before, concomitantly with, or after diagnosis of the tumor (in 36%, 30%, and 34% of cases, respectively). Membranous nephropathy (49%) was the most prevalent renal pathology and found particularly in patients with lung, colorectal, or breast carcinoma. Regardless of whether treatment was for cancer alone or in combination with NS, the likelihood of remission was high.
    CONCLUSIONS: The pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients.
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  • 文章类型: Case Reports
    在并发肺肉瘤样反应和肺腺癌的背景下,将眼部肉瘤样反应描述为副肿瘤综合征的独特表现。
    单例报告和叙述性回顾。
    一名59岁的男性患者,有一年的视力下降和体重减轻的病史。临床检查显示全葡萄膜炎和多发性脉络膜视网膜病变。胸部CT扫描显示纵隔和肺门淋巴结肿大以及恶性的右下肺结节。随后的支气管镜检查和活检证实前哨淋巴结中有肺腺癌和非干酪性肉芽肿。
    尽管肺肉芽肿反应可以在肺部恶性肿瘤中看到,眼部类肉瘤样反应可能表现为系统性恶性肿瘤的副肿瘤表现,伴随的肺和眼部类肉瘤样反应的存在区分了这种情况。这些发现强调了对有体质症状的患者进行系统性检查的重要性,因为副肿瘤综合征和转移性疾病可能模拟葡萄膜炎。识别副肿瘤结节病作为潜在的临床表现是至关重要的,尤其是有慢性病指标的患者,需要对恶性肿瘤进行全面评估。
    UNASSIGNED: 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.
    UNASSIGNED: Single case report and narrative review.
    UNASSIGNED: 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.
    UNASSIGNED: 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.
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  • 文章类型: Case Reports
    抗垂体特异性转录因子-1(PIT-1)垂体炎,由抗PIT-1的自身免疫反应引起的副肿瘤综合征,通常表现为生长激素(GH)和催乳素(PRL)水平检测不到,诊断时血清促甲状腺激素(TSH)水平明显较低。这些激素水平对这种疾病具有高度特异性,可作为关键的诊断指标。在这里,我们介绍了一名69岁男性的详细临床过程,该男性有胃癌和淋巴结转移史,该男性在免疫检查点抑制剂(ICI)治疗后出现抗PIT-1垂体炎,特别是nivolumab,奥沙利铂,和卡培他滨.由于TSH下降,患者被转诊到我们部门,游离三碘甲状腺原氨酸(T3),和游离甲状腺素(T4)水平后两个剂量的纳武单抗。最初怀疑是由于ICI相关的垂体炎引起的中枢甲状腺功能减退症,进一步评估证实了抗PIT-1垂体炎的诊断。值得注意的是,GH,PRL,TSH水平明显下降,在第一次nivolumab剂量后2个月导致完全缺陷-这种模式与以前的抗PIT-1垂体炎病例一致。因此,本报告不仅介绍了ICI相关垂体炎的非典型亚组,还描述了激素损伤导致抗PIT-1垂体炎完全缺乏的过程.这个案例突出了对接受ICI治疗的患者进行内分泌问题的警惕监测的重要性,考虑到与广泛使用ICI治疗各种癌症相关的免疫相关不良事件的发生率不断上升。
    Anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis, a paraneoplastic syndrome resulting from an autoimmune response against PIT-1, typically manifests with undetectable levels of growth hormone (GH) and prolactin (PRL), and significantly low levels of serum thyroid-stimulating hormone (TSH) at diagnosis. These hormonal levels are highly specific to this disease and serve as key diagnostic indicators. Herein, we present a detailed clinical course of a 69-year-old male with a history of gastric cancer and lymph node metastases who developed anti-PIT-1 hypophysitis after the initiation of immune checkpoint inhibitor (ICI) therapy, specifically nivolumab, oxaliplatin, and capecitabine. The patient was referred to our department owing to decreased TSH, free triiodothyronine (T3), and free thyroxine (T4) levels after two doses of nivolumab. Initially suspected as central hypothyroidism due to ICI-related hypophysitis, further assessment confirmed the diagnosis of anti-PIT-1 hypophysitis. Notably, GH, PRL, and TSH levels markedly declined, leading to complete deficiencies 2 months after the first nivolumab dose-a pattern consistent with that of previous cases of anti-PIT-1 hypophysitis. Therefore, this report not only presents an atypical subset of ICI-related hypophysitis but also delineates the process of hormone impairment leading to complete deficiencies in anti-PIT-1 hypophysitis. This case highlights the importance of vigilant monitoring for endocrine issues in patients undergoing ICI therapy, given the escalating incidence of immune-related adverse events associated with the extensive use of ICI therapy for various cancers.
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  • 文章类型: Journal Article
    肌阵鸣-肌阵鸣共济失调综合征(OMAS),也被称为Kinsbourne综合征,是一种罕见的疾病,表现为肌阵挛症,共济失调,异常的眼球运动,烦躁,和睡眠中断,通常在年幼的孩子。我们报告了一个只有6个月大的婴儿,没有明显的既往病史,他向急诊室展示了震颤,头部和手臂的剧烈运动,和快速的眼球运动。经过广泛的检查,她被发现患有神经母细胞瘤,随后通过开胸手术切除。尽管切除后症状初步改善,病人的症状复发。她随后接受了地塞米松治疗,静脉注射免疫球蛋白(IVIG),还有利妥昔单抗.治疗后,该患者被发现有轻度的全球性发育迟缓,但其他情况良好。此病例报告强调了在诊断时仅6个月大的婴儿中OMAS的罕见发生。使用PubMed数据库,进行了系统评价以突出临床表现,诊断,和OMAS的管理。
    Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements, irritability, and sleep disruptions, often in young children. We report a case of an infant barely 6 months old, with no significant past medical history, who presented to the emergency department with tremors, jerking motions of the head and arms, and rapid eye movements. After an extensive workup, she was found to have a neuroblastoma, which was subsequently surgically removed via thoracotomy. Despite an initial improvement in symptoms post-resection, the patient\'s symptoms recurred. She was subsequently treated with dexamethasone, intravenous immunoglobulin (IVIG), and rituximab. After treatment, the patient was noted to have mild global developmental delays but was otherwise well. This case report highlights the rare occurrence of OMAS in an infant barely 6 months old at diagnosis. Using the PubMed database, a systematic review was conducted to highlight the clinical presentation, diagnosis, and management of OMAS.
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  • 文章类型: Journal Article
    目的异位嗅神经母细胞瘤是已经罕见的肿瘤的罕见表现。我们旨在系统地回顾异位嗅神经母细胞瘤病例的文献,以更好地表征这种罕见的疾病实体,并提出两个新的病例报告。方法根据系统评价和Meta分析指南的首选报告项目搜索PubMed和Embase数据库,以确定报告异位嗅觉神经母细胞瘤病例的英文文章。从1955年到2021年11月出版。结果包括本综述在内的62篇文献中,共发现异位嗅神经母细胞瘤66例。异位嗅觉神经母细胞瘤的年龄范围很广(2-89岁),没有明显的性别倾向。它最常见于筛骨(25%),上颌(25%),和蝶窦(16%)。73%的病例表现为低Hyams等级(I和II)。最常见的症状是鼻塞(32%)和鼻出血(32%)。在27%的患者中观察到副肿瘤综合征。最常见的治疗方法是手术切除,然后进行辅助放疗。总的来说,在最后一次随访时,所有患者中有76%没有疾病。在19%和5%的病例中发现了局部复发和远处转移,分别。结论本系统综述描述了以前报道的异位嗅觉神经母细胞瘤病例。一种特征知之甚少的疾病实体。医生应在鼻窦肿块的鉴别诊断中考虑嗅觉神经母细胞瘤,因为它们的异位表现可能存在相当大的诊断和治疗困难。嗅觉神经母细胞瘤患者可能受益于长期随访和常规内镜检查,以监测异位复发。
    Objectives  Ectopic olfactory neuroblastoma is an uncommon manifestation of an already rare neoplasm. We aimed to systematically review the literature for cases of ectopic olfactory neuroblastoma to better characterize this rare disease entity and to present two new case reports. Methods  A search of the PubMed and Embase databases was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to identify English-language articles reporting cases of ectopic olfactory neuroblastoma, published from 1955 through November 2021. Results  Sixty-six cases of ectopic olfactory neuroblastoma were identified in 62 articles including the current review. Ectopic olfactory neuroblastoma arose in a wide age range (2-89 years) without significant sex predilection. It occurred most commonly in the ethmoid (25%), maxillary (25%), and sphenoid (16%) sinuses. Seventy-three percent of cases presented with low Hyams grade (I and II). The most common symptoms were nasal obstruction (32%) and epistaxis (32%). Paraneoplastic syndromes were observed in 27% of patients. The most common treatment was surgical resection followed by adjuvant radiotherapy. Overall, 76% of all patients were disease-free at the time of last follow-up. Locoregional recurrences and distant metastases were found in 19 and 5% of cases, respectively. Conclusion  This systematic review describes previously reported cases of ectopic olfactory neuroblastoma, a disease entity with poorly understood characteristics. Physicians should consider olfactory neuroblastoma in the differential diagnosis for sinonasal masses, as their ectopic presentation may present considerable diagnostic and therapeutic difficulties. Patients with olfactory neuroblastoma may benefit from long-term follow-up and routine endoscopic examinations for surveillance of ectopic recurrences.
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  • 文章类型: Case Reports
    磷酸间充质肿瘤(PMT)是一种罕见的肿瘤,可以通过过度产生FGF23来引起肿瘤诱导的骨软化症(TIO),FGF23是一种导致肾磷酸盐消耗和成骨细胞活性降低的肽激素。由于呈现的症状是非特异性的,因此难以进行PMT的诊断。虽然PMT是一个罕见的实体,大多数病例本质上是良性的,手术后不需要进一步干预,因为切除通常是治愈性的。这里,我们介绍了一例独特的恶性PMT伴从头肝转移的女性患者,该患者出现TIO,并接受了原发病灶的手术切除,随后肝转移消退.此外,我们分析了文献综述,并讨论了及时诊断这种罕见现象的重要性。值得鼓励的是,提供者强烈考虑在其他原因不明的骨痛患者中诊断为PMT,疲劳,弱点,特别是如果伴有低磷酸盐血症。还需要进一步的研究来确定预测PMT恶性潜能的预后因素,因为它们可能有助于确定可能的治疗靶点。
    磷酸间充质肿瘤扩散至肝脏:1例报告和文献综述磷酸间充质肿瘤(PMTs)是一种罕见的肿瘤,可通过FGF23信号的过量产生而导致骨丢失。这种激素会导致肾脏失去磷酸盐,并降低身体建立新骨的能力。PMT非常罕见且难以诊断,特别是因为可以在几种不同的疾病中看到呈现的症状。虽然PMT很少见,大多数病例是良性的,只需要做手术.我们正在介绍一个独特的病例,一个患者在她的右大腿出现PMT,并有证据表明疾病传播到她的肝脏。我们的患者接受了大腿病变的手术切除,随后肝脏病变得到了改善。在我们的研究中,我们分析了文献综述,并讨论了及时诊断这种罕见现象的重要性。值得鼓励的是,提供者强烈考虑在其他原因不明的骨痛患者中诊断为PMT,疲劳,弱点,特别是如果伴有低磷酸盐水平。还需要进一步的研究来确定预测PMT恶性潜力的预后因素,因为它们可能有助于确定可能的治疗靶标。
    Phosphaturic mesenchymal tumors (PMTs) are rare tumors that can cause tumor-induced osteomalacia (TIO) through overproduction of FGF23, a peptide hormone that causes renal phosphate wasting and reduced osteoblastic activity. The diagnosis of PMTs can be difficult to make as the presenting symptoms are non-specific. Although PMT is a rare entity, most cases are benign in nature, not requiring further intervention after surgery, as resection is typically curative. Here, we present a unique case of malignant PMT with de novo liver metastasis in a female patient who presented with TIO and underwent surgical resection of her primary lesion with subsequent regression of her liver metastasis. Moreover, we analyze a review of literature and discuss the importance of a timely diagnosis of this rare phenomenon. It is encouraged that providers strongly consider a diagnosis of PMT in patients with otherwise unexplained bone pain, fatigue, weakness, especially if accompanied with hypophosphatemia. Further studies are also warranted to identify prognostic factors that predict a PMT\'s malignant potential as they may help identify possible therapeutic targets.
    Phosphaturic mesenchymal tumor with spread to the liver: A case report and literature review Phosphaturic mesenchymal tumors (PMTs) are rare tumors that can cause bone loss through the excess production of a signal named FGF23. This hormone causes the kidneys to lose phosphate and reduces the body’s ability to build new bone. PMTs are incredibly rare and difficult to diagnose especially since the presenting symptoms can be seen in several different diseases. Although PMT is rare, most cases are benign, only requiring surgery. We are presenting a unique case of a patient who presented with PMT in her right thigh and had evidence that the disease spread to her liver. Our patient underwent surgical resection of her thigh lesion and subsequently had improvement of her liver lesion. In our study, we analyze a review of literature and discuss the importance of a timely diagnosis of this rare phenomenon. It is encouraged that providers strongly consider a diagnosis of PMT in patients with otherwise unexplained bone pain, fatigue, weakness, especially if accompanied by low phosphate levels. Further studies are also warranted to identify prognostic factors that predict a PMT’s malignant potential as they may help identify possible therapeutic targets.
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  • 文章类型: Case Reports
    具有破骨细胞样巨细胞的未分化癌(UC-OGC)是胰腺癌的一种罕见肿瘤类型。副肿瘤综合征,以各种皮肤表现为特征的特发性炎性肌炎(如皮肌炎(DM)),不能归因于原发性肿瘤本身。这里,我们报告了一个不寻常的UC-OGC病例,表现为副肿瘤综合征,第一个报告来自沙特阿拉伯和阿拉伯海湾国家。一名患有DM的49岁厄立特里亚妇女因左侧胸腔积液被转诊到我们医院。腹部计算机断层扫描显示大的坏死性脾肿块(〜17×12.9×18.2cm)。该患者接受了剖腹探查术,并整体切除了肿块(脾切除术,远端胰腺切除术,和部分切除左半膈肌)。在对肿块进行组织病理学检查后,胰腺的UG-OGC,表现为副肿瘤综合征,被诊断出来了.据我们所知,该病例首次出现与UC-OGC相关的副肿瘤综合征.识别出非典型为副肿瘤综合征的极为罕见的肿瘤表明了对恶性肿瘤患者进行全面检查的重要性,强调需要更多类似案件的报告。
    Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is a rare tumor type of pancreatic cancer. Paraneoplastic syndromes, an idiopathic inflammatory myositis characterized by various skin manifestations (such as dermatomyositis (DM)), cannot be attributed to the primary tumor itself. Here, we report an unusual case of UC-OGC presenting as a paraneoplastic syndrome, the first reported from Saudi Arabia and the Arabian Gulf states. A 49-year-old Eritrean woman with known DM was referred to our hospital with a left-sided pleural effusion. Computed tomography of the abdomen revealed a large necrotic splenic mass (~17 × 12.9 × 18.2 cm). The patient underwent exploratory laparotomy with en bloc resection of the mass (splenectomy, distal pancreatectomy, and partial excision of the left hemidiaphragm). Following a histopathological examination of the mass, UG-OGC of the pancreas, presenting as a paraneoplastic syndrome, was diagnosed. To our knowledge, this case is the first to present a paraneoplastic syndrome associated with UC-OGC. The identification of an exceedingly rare tumor presenting atypically as a paraneoplastic syndrome shows the importance of conducting comprehensive examinations of patients with malignancies, emphasizing the need for more reports of similar cases.
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  • 文章类型: Journal Article
    抗N-甲基-D-天冬氨酸受体相关脑炎(NMDARE)是一种罕见的免疫介导的神经炎症性疾病,其特征是神经精神症状和自主神经功能障碍的快速发作。发病机制尚不完全清楚,但被认为与靶向NMDA受体GluN1亚基的抗体相关,导致多巴胺能途径的下游失调。年轻人最常受到影响;诊断时的中位年龄为21岁。有强烈的女性偏爱,女性的性别优势为4:1。NMDARE通常发展为副肿瘤过程,最常见于卵巢畸胎瘤。然而,NMDARE也被描述为小细胞肺癌患者,肾透明细胞癌,和其他良性和恶性肿瘤。诊断基于临床表现的相关性,脑电图,实验室研究,和成像。计算机断层扫描,正电子发射断层扫描,磁共振成像对于识别潜在的肿瘤至关重要,排除临床病理模拟,并预测长期功能损害的可能性。核成像对于预测和评估对治疗的反应可能是有价值的。治疗可能涉及大剂量皮质类固醇,静脉注射免疫球蛋白,和血浆置换。在这里,我们回顾了这种罕见但潜在破坏性疾病的标志性临床病理特征和影像学发现,并总结了诊断标准。治疗方案,并提出了致病机制。
    Anti-N-methyl-D-aspartate receptor-associated encephalitis (NMDARE) is a rare immune-mediated neuroinflammatory condition characterized by the rapid onset of neuropsychiatric symptoms and autonomic dysfunction. The mechanism of pathogenesis remains incompletely understood, but is thought to be related to antibodies targeting the GluN1 subunit of the NMDA receptor with resultant downstream dysregulation of dopaminergic pathways. Young adults are most frequently affected; the median age at diagnosis is 21 years. There is a strong female predilection with a female sex predominance of 4:1. NMDARE often develops as a paraneoplastic process and is most commonly associated with ovarian teratoma. However, NMDARE has also been described in patients with small cell lung cancer, clear cell renal carcinoma, and other benign and malignant neoplasms. Diagnosis is based on correlation of the clinical presentation, electroencephalography, laboratory studies, and imaging. Computed tomography, positron emission tomography, and magnetic resonance imaging are essential to identify an underlying tumor, exclude clinicopathologic mimics, and predict the likelihood of long-term functional impairment. Nuclear imaging may be of value for prognostication and to assess the response to therapy. Treatment may involve high-dose corticosteroids, intravenous immunoglobulin, and plasma exchange. Herein, we review the hallmark clinicopathologic features and imaging findings of this rare but potentially devastating condition and summarize diagnostic criteria, treatment regimens, and proposed pathogenetic mechanisms.
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