朗读老师：Jane 天津某医院
翻译老师：张翠 浙江省立同德医院
审校老师：姜春雷 青岛市第九人民医院
57-year-old woman with fatigue, weakness, headaches
57 岁女性，疲劳、乏力、头痛
History and MR images病史和磁共振图像
History: A 57-year-old woman presents with progressive fatigue, weakness, and headaches.
病史：一名 57 岁女性表现为进行性疲劳、乏力和头痛。
Axial T2-weighted, fluid-attenuated inversion-recovery (FLAIR), and precontrast T1-weighted MR images, as well as axial and coronal postcontrast T1-weighted images, are shown below. Click to enlarge.
横断位 T2 加权、液体衰减反转恢复 (FLAIR) 和 T1 加权 MR 图像，以及横断位和冠状位增强 T1 加权图像如下所示。点击放大。
Findings 结果
MRI demonstrates innumerable punctate T2/FLAIR hyperintense, enhancing nodules in the centrum semiovale, corona radiata, basal ganglia, brainstem, and visualized upper cervical spine bilaterally. Many of these nodules appear near the deep penetrating vessels along the perivascular spaces.
MRI 显示无数点状 T2/FLAIR 高信号，双侧半卵圆中心、放射冠、基底神经节、脑干和上颈髓中强化的结节。 许多结节出现在血管周围间隙的深穿支血管附近。
Differential diagnosis 鉴别诊断
Infectious 感染性病变
Neurocysticercosis 神经囊尾蚴病
Cryptococcosis 隐球菌病
Tuberculosis 结核
Toxoplasmosis 弓形体病
Inflammatory: Neurosarcoidosis 炎性病变：神经结节病
Neoplastic 肿瘤性病变
Intravascular lymphoma 血管内淋巴瘤
Leptomeningeal metastases 软脑膜转移
Patient clinical course: Blood and cerebrospinal fluid samples were obtained. The patient was HIV-negative. Samples were all negative for Cryptococcus, tuberculosis, and other infectious etiologies. The patient is currently being treated for presumed neurosarcoidosis.
患者临床过程：获取血液和脑脊液样本。该患者为 HIV抗体阴性。 隐球菌、结核病和其他感染性疾病因均呈阴性。 该患者目前正在接受疑似神经结节病的治疗。
Diagnosis: Presumed neurosarcoidosis 诊断：疑似神经结节病
Key points 关键点
Neurosarcoidosis 神经结节病
Epidemiology/pathogenesis 流行病学/发病机制
Sarcoidosis is an idiopathic (likely autoimmune) granulomatous disease affecting multiple organs. It most commonly affects people between the ages of 20 and 40, with the highest prevalence in Scandinavians and African-Americans. Pathologically, it is characterized by discrete, noncaseating granulomas (containing differentiated phagocytes and lymphocytes), with a surrounding fibrotic response. Neurological involvement is found in approximately 15% of patients, usually in the setting of multisystem disease, but it can present as isolated neurosarcoidosis.
结节病是一种累及多个器官的特发性（可能是自身免疫性）肉芽肿性疾病。 好发于20 至 40 岁人群，其中斯堪的纳维亚人和非裔美国人的患病率最高。在病理学上，它的特征是离散的非干酪性肉芽肿（含有分化的吞噬细胞和淋巴细胞），周围有纤维化反应。在大约 15% 的患者中发现神经系统受累，通常是在多系统疾病的情况下，但也可以表现为孤立的神经结节病。
Neurosarcoidosis is classified based on cranial nerve, parenchymal, leptomeningeal and peripheral nerve involvement. It is thought to develop initially as a granulomatous inflammatory meningitis, with extension into the parenchyma as it spreads along the perivascular spaces.
神经结节病根据颅神经、脑实质、软脑膜和周围神经受累进行分类。 该病最初形成肉芽肿性炎性脑膜炎，随后沿着血管周围间隙扩散而扩展到脑实质。
Clinical presentation 临床表现
The clinical manifestations of neurosarcoidosis usually occur within two years of the initial sarcoidosis diagnosis. Headache is the most common symptom, but it is nonspecific. Cranial neuropathies are the most common neurologic manifestations and include facial nerve palsy (usually unilateral), optic neuritis, and hearing loss. Meningeal spread can lead to aseptic meningitis with symptoms such as fever, headache, and nuchal rigidity. Hydrocephalus can occur, either communicating from meningeal-arachnoid granulation involvement or noncommunicating from compression of the aqueduct or fourth ventricle from mass effect from granulomas. The hypothalamic-pituitary axis can become involved, leading to neuroendocrine dysfunction and symptoms of diabetes insipidus, syndrome of inappropriate antidiuretic hormone secretion (SIADH), hypothyroidism, hypodrenalism, or hyperprolactinemia. Neurosarcoidosis can also present with seizures, neuropsychiatric symptoms. Peripheral nervous system involvement can lead to peripheral neuropathies, chronic pain, myelopathies, and myopathies.
神经结节病的临床表现通常发生在最初诊断为结节病的两年内。头痛是最常见的症状，但非特异性。颅神经病变是最常见的神经系统表现，包括面神经麻痹（通常为单侧）、视神经炎和听力丧失。脑膜传播可导致无菌性脑膜炎，症状包括发烧、头痛和颈部僵硬。可见脑积水，可能是由于脑膜-蛛网膜肉芽肿累及引起的交通性脑积水，也可能是由于肉芽肿引起的占位效应导致导水管或第四脑室受压引起的非交通性脑积水。下丘脑-垂体轴可受累，导致神经内分泌功能障碍和尿崩症、抗利尿激素分泌不当综合征 (SIADH)、甲状腺功能减退、肾上腺功能减退或高催乳素血症。神经结节病也可表现为癫痫、神经精神症状。周围神经系统受累可导致周围神经病、慢性疼痛、脊髓病和肌病。
Diagnosis 诊断
Although brain biopsy is the gold standard for diagnosis, it is usually not performed given the invasiveness of the procedure. It is usually diagnosed based on compatible clinical findings, excluding other diagnoses (especially infectious etiologies such as tuberculosis and Cryptococcus) and histological findings from extraneural tissue samples. In isolated neurosarcoidosis, the key differential diagnostic consideration is multiple sclerosis, which can usually be distinguished based on clinical course/manifestations, imaging characteristics and CSF findings.
尽管脑活检是诊断的金标准，但鉴于其为侵入性检查，通常不会进行。通常是在排除其他诊断（特别是感染性病因，如结核病和隐球菌）后，根据共存的临床表现和神经外组织样本的组织学发现进行诊断。在孤立性神经结节病中，关键的鉴别诊断是多发性硬化症，通常可以根据临床病程/表现、影像学特征和脑脊液检查结果进行区分。
Imaging features
Best seen on contrast-enhanced MRI. 最好在对比增强 MRI 上观察。
Can see pachymeningeal involvement, leptomeningeal involvement (including cranial nerves), and/or parenchymal involvement.
可以看到硬脑膜受累、软脑膜受累（包括颅神经）和/或脑实质受累。
Leptomeningeal enhancement is in the form of nodules/plaques with extension up perivascular spaces, which is the most common finding.
软脑膜增强呈结节/斑块形式，沿着血管周围间隙延伸，这是最常见的表现。
Leptomeningeal enhancement often involves the basal meninges, including suprasellar region.
软脑膜强化常累及基底脑膜，包括鞍上区。
Swelling and enhancement of cranial nerves are common findings.
颅神经肿胀和强化是常见的表现。
Granulomas can cause diffuse dural thickening or focal dural masses.
肉芽肿可引起弥漫性硬脑膜增厚或局灶性硬脑膜肿块。
Dural and leptomeningeal enhancement are rarely seen in the same region.
硬脑膜和软脑膜强化很少见于同一区域。
May also present as solitary or multiple enhancing parenchymal masses, which are usually T1 hypointense and T2 hyperintense.
也可以表现为 T1 低信号和 T2 高信号的孤立或多发性强化的实质性肿块。
Prognosis/treatment 预后/治疗
Prognosis is worse for patients with hydrocephalus, seizures, and chronic meningitis.
脑积水、癫痫和慢性脑膜炎患者的预后较差。
Corticosteroids is the mainstay initial treatment, useful in acute inflammatory episodes, but less useful for more chronic manifestations.
类固醇激素是主要的初始治疗，可用于急性炎症发作，但对更慢性的症状效果欠佳。
Immunomodulating and cytotoxic agents such as methotrexate, cyclophosphamide, and infliximab are often required as second-line agents, since neurosarcoidosis is often refractory to initial treatments.
免疫调节剂和细胞毒剂如甲氨蝶呤、环磷酰胺和英夫利昔单抗通常作为二线药物，因为神经结节病通常对初始治疗无效。
Imaging does not correlate very well with treatment response.
成像与治疗反应的相关性不是很好。
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