1、NMOSD诊断和治疗,主要内容,NMOSD定义和历史进展 最新诊断标准 MRI表现特点 鉴别诊断病变 主要治疗,The Definition and Progression of NMOSD,Neuromyelitis optica (NMO) is an inflammatory CNS syndrome distinct from multiple sclerosis (MS) that is associated with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG).With deeper understanding
2、of NMO, the diagnostic criteria of NMO also evolved from the version in 1999, through the revised one in 2006, and finally to the first international consensus criteria in 2015. The new criteria have adopted the broader term of NMOSD to include patients with limited manifestations. Moreover, they ha
3、ve stratified NMOSD into two types: NMOSD with AQP4-IgG (NMOSD-AQP4); and NMOSD without AQP4-IgG or with unknown AQP4-IgG status.,NMOSD diagnostic criteria for adult patients,Diagnostic criteria for NMOSD with AQP4-IgG 1. At least 1 core clinical characteristic 2. Positive test for AQP4-IgG using be
4、st available detection method (cell-based assay strongly recommended) 3. Exclusion of alternative diagnoses Diagnostic criteria for NMOSD without AQP4-IgG or NMOSD with unknown AQP4-IgG status 1. At least 2 core clinical characteristics occurring as a result of one or more clinical attacks and meeti
5、ng all of the following requirements: a. At least 1 core clinical characteristic must be optic neuritis, acute myelitis with LETM, or area postrema syndrome b. Dissemination in space (2 or more different core clinical characteristics) c. Fulfillment of additional MRI requirements, as applicable 2. N
6、egative tests for AQP4-IgG using best available detection method, or testing unavailable 3. Exclusion of alternative diagnoses,Core clinical characteristics 1. Optic neuritis 2. Acute myelitis 3. Area postrema syndrome: episode of otherwise unexplained hiccups or nausea and vomiting 4. Acute brainst
7、em syndrome 5. Symptomatic narcolepsy or acute diencephalic clinical syndrome with NMOSD-typical diencephalic MRI lesions 6. Symptomatic cerebral syndrome with NMOSD-typical brain lesions,Additional MRI requirements for NMOSD without AQP4-IgG and NMOSD with unknown AQP4-IgG status 1. Acute optic neu
8、ritis: requires brain MRI showing (a) normal findings or only nonspecific white matter lesions, OR (b) optic nerve MRI with T2-hyperintense lesion or T1-weighted gadolinium enhancing lesion extending over .1/2 optic nerve length or involving optic chiasm 2. Acute myelitis: requires associated intram
9、edullary MRI lesion extending over 3 contiguous segments (LETM) OR 3 contiguous segments of focal spinal cord atrophy in patients with history compatible with acute myelitis 3. Area postrema syndrome: requires associated dorsal medulla/area postrema lesions 4. Acute brainstem syndrome: requires asso
10、ciated periependymal brainstem lesions,Spinal cord MRI, acute LETM lesion associated with acute TM Increased signal on sagittal T2-weighted (standard T2-weighted, proton density, or STIR sequences) extending over 3 or more complete vertebral segments Central cord predominance (more than 70% of the l
11、esion residing within the central gray matter) Gadolinium enhancement of the lesion on T1-weighted sequences (no specific distribution or pattern of enhancement is required) Other characteristic features that may be detected Rostral extension of the lesion into the brainstem (figure 1, D and E) Cord
12、 expansion/swelling Decreased signal on T1-weighted sequences corresponding to region of increased T2-weighted signal,MRI Presentations of NMOSD,Spinal cord MRI, chronic Longitudinally extensive cord atrophy (sharply demarcated atrophy extending over more than 3 complete, contiguous vertebral segmen
13、ts and caudal to a particular segment of the spinal cord), with or without focal or diffuse T2 signal change involving the atrophic segment Optic nerve MRI Unilateral or bilateral increased T2 signal or T1 gadolinium enhancement within optic nerve or optic chiasm (figure 1, IK); relatively long lesi
14、ons (e.g., those extending more than half the distance from orbit to chiasm) and those involving the posterior aspects of the optic nerves or the chiasm are associated with NMO,Cerebral MRI: NMOSD-typical brain lesion patterns (increased signal on T2-weighted MRI sequences unless otherwise noted) Le
15、sions involving the dorsal medulla (especially the area postrema), either small and localized, often bilateral, or contiguous with an upper cervical spinal cord lesion Periependymal surfaces of the fourth ventricle in the brainstem/cerebellum Lesions involving the hypothalamus, thalamus, or periepen
16、dymal surfaces of the third ventricle Large, confluent, unilateral, or bilateral subcortical or deep white matter lesions Long (1/2 of the length of the corpus callosum or greater), diffuse, heterogeneous, or edematous corpus callosum lesions Long corticospinal tract lesions, unilateral or bilateral
17、, contiguously involving internal capsule and cerebral peduncle Extensive periependymal brain lesions, often with gadolinium enhancement,Differential Diagnoses,Diverse neurological diseases including inflammatory, infectious, malignant, vascular, and hereditary etiologies can resemble the phenotypes
18、 of NMOSD. Nevertheless, as these NMOSD mimics are distinct from NMOSD in treatment as well as pathophysiology, early differential diagnosis and appropriate individualized treatment will improve the outcome of such patients.,Multiple sclerosis Acute disseminated encephalomyelitis Idiopathic acute tr
19、ansverse myelitis Idiopathic optic neuritis Inflammatory diseases associated with antibody to myelin oligodendrocyte glycoprotein Sarcoidosis CNS involvement in patients with systemic autoimmune disease Sjogrens syndrome 干燥综合征 Systemic lupus erythematous.CNS lymphoma Neuro-Behet disease Spinal dural
20、 arteriovenous fistula Infections Syphilis Miscellaneous infections Leber hereditary optic neuropathy,治疗,NMOSD治疗应该遵循在循证医学证据的基础上，结合患者的经济条件和意愿，进行早期、合理、治疗 目前NMOSD的治疗推荐主要是基于一些小样本临床试验、回顾性研究、以及专家共识并借助其他自身免疫性疾病治疗经验而得出 NMOSD的治疗分为急性期治疗、序贯治疗（免疫抑制治疗）、对症治疗和康复治疗,急性期治疗（与MS相同） 大剂量MTP冲击 血浆置换缓解期治疗（与MS不同） 硫唑嘌呤 利妥昔单抗
21、麦考酚酸莫酯,NMOSD对症治疗,抑郁(depression) 草酸艾司，西酞普兰、氟西汀等 认知功能障碍(cognitive dysfunction) 胆碱酯酶抑制剂、抗抑郁药 疲乏(fatigue) 抗抑郁药、莫达非尼、金刚烷胺等 步态受损(gait impairment) 发作性症状(paroxysmal symptoms) 卡马西平、加巴喷丁 癫痫(seizures) 卡马西平、丙戊酸等 性功能障碍(sexual dysfunction) 西地那非 强直(spasticity) 巴氯芬、丹曲林、肉毒素A 括约肌功能障碍(sphincter dysfunction) 间断导尿；抗胆碱药(奥昔布宁、托特罗定、山莨菪碱),Thank you for your attention,
