■该研究的目的是介绍一例罕见的小儿双侧视神经病变和视网膜病变,这与自身免疫性视网膜病变的诊断一致。我们还回顾了最新的文献和与报道的小儿自身免疫性视网膜病变病例相关的表型。
■本研究的设计是一个病例报告,回顾性病例系列文献综述。
■这项研究纳入了来自六个受试者的数据,其中一份作为原始病例报告,五份从迄今为止出版的英语文献中确定。
■材料和方法涉及对眼底发现的描述性分析,电生理测试,血清自身抗体检测,光学相干断层扫描(OCT),脑部核磁共振扫描,和荧光素血管造影,在可用的地方进行。
■该研究评估了所有受试者的临床表现和治疗结果,并跟踪了他们随时间的视觉功能。
■所有6名受试者都有视网膜异常,这些异常在影像学上都有记录,六个受试者中有五个有视神经异常。对三名受试者进行了电生理测试,所有记录异常结果。描述了四名受试者的潜在肿瘤性疾病。血清自身抗体测试结果可用于四名受试者。血清测试包括使用针对22kDa抗原的抗体,一种35kDa的视神经衍生抗原,一个62kDa的抗原,烯醇化酶,recoverin,微管蛋白,和丙酮酸激酶M2。我们的受试者在切除伴有不对称双侧视力丧失的神经节胶质瘤12年后出现,一只眼睛椎间盘水肿,其他人眼中的先进的光盘苍白,和双侧细微的视网膜浸润,尽管荧光素血管造影正常.OCT显示不对称神经节细胞层变薄,这与视力丧失是一致的。我们的受试者也有异常的脑MRI表现,广泛的厚膜增强,但他的脑脊液成分正常.他最初接受了高剂量脉冲类固醇治疗,其次是静脉注射免疫球蛋白治疗。他的双眼都经历了部分视觉恢复。
■小儿自身免疫性视网膜病变和视神经病变是罕见的疾病,可以表现出独特的体征和症状。在出现亚急性进行性视力丧失症状并伴有阴性炎症检查的儿科患者中,既往肿瘤史,和/或进行性视网膜病变或视神经病变的临床表现,应在差异中考虑自身免疫过程。
UNASSIGNED: The purpose of the study was to present a rare case of pediatric bilateral optic neuropathy and retinopathy, which was consistent with a diagnosis of autoimmune retinopathy. We also reviewed the most current literature and phenotypes associated with reported pediatric cases of autoimmune retinopathy.
UNASSIGNED: The design of the study was a case report, with a retrospective case series literature review.
UNASSIGNED: This study incorporated data from six subjects, with one presenting as an original case report and five being identified from the English-language literature published to date.
UNASSIGNED: The materials and methods involved a descriptive analysis of fundus findings, electrophysiologic testing, serum autoantibody testing, optical coherence tomography (OCT), brain MRI scanning, and fluorescein angiography, which were performed where available.
UNASSIGNED: The study evaluated the clinical presentation and treatment outcomes of all subjects and followed their visual function over time.
UNASSIGNED: All six subjects had retinal abnormalities that were documented on imaging, while five out of the six subjects had optic nerve abnormalities. Electrophysiologic testing was performed on three subjects, all of whom recorded abnormal results. An underlying neoplastic disorder was described for four subjects. Serum autoantibody testing results were available for four subjects. The serum testing included using antibodies against a 22-kDa antigen, a 35-kDa optic nerve-derived antigen, a 62-kDa antigen, enolase, recoverin, tubulin, and pyruvate kinase M2. Our subject presented 12 years after resection of a ganglioglioma with asymmetric bilateral vision loss, disc edema in one eye, advanced disc pallor in the fellow eye, and bilateral subtle retinal infiltrates, despite having a normal fluorescein angiogram. OCT demonstrated asymmetric ganglion cell layer thinning, which is consistent with the vision loss. Our subject also had abnormal brain MRI findings of widespread pachymeningeal enhancement, but he had a normal cerebrospinal fluid composition. He was initially treated with high-dose pulse steroids, followed by intravenous immunoglobulin therapy. He experienced partial visual recovery in both eyes.
UNASSIGNED: Pediatric autoimmune retinopathy and optic neuropathy are rare diseases that can present with unique signs and symptoms. In pediatric patients who present with symptoms of subacute progressive vision loss with negative inflammatory workups, a history of prior neoplasm, and/or clinical findings of progressive retinopathy or optic neuropathy, an autoimmune process should be considered in the differential.