视网膜错构瘤对依维莫司治疗结节性硬化症的反应:一篇摄影文章

Karin Herscu, R. Cohen, Inbal Man-Peles, S. Michowiz, N. Goldenberg-Cohen
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引用次数: 1

摘要

背景:结节性硬化症以包括视网膜错构瘤在内的多器官错构瘤为特征。依维莫司是一种治疗结节性硬化症相关病变的新方法。我们报告了一个依维莫司导致病变缩小、皮肤结节瘤和视网膜错构瘤的病例,表明依维莫司的效果可以通过眼部检查来检测、测量和监测。病例报告:我们描述了一位24岁的女性,自出生以来被诊断为结节性硬化症,多器官受累。患者有多器官受累,肾脏血管脂肪瘤对治疗有抵抗性。她还接受了室管膜下巨细胞星形细胞瘤脑瘤切除术。反复栓塞治疗肾血管脂肪瘤后,以依维莫司治疗。肿瘤对治疗反应良好。结论:在24个月的治疗期间,皮肤病变消失,眼底照片和重复视网膜光学相干断层扫描测量记录了视网膜错构瘤的缩小。我们得出结论,简单的眼部检查可以监测治疗效果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Retinal hamartomas respond to everolimus treatment for tuberous sclerosis: A photo essay
Background: Tuberous sclerosis is characterized by hamartomas in multiple organs including retinal hamartomas. Everolimus is a novel treatment for tuberous sclerosisrelated lesions. We present a case where everolimus led to lesion shrinkage, the skin tuberomas, as well as the retinal hamartomas, indicating that its effect can be detected, measured, and monitored with an ocular examination. Case Report: We describe a 24-year-old female diagnosed with tuberous sclerosis since birth, with multiorgan involvement. The patients had multiorgan involvement, with angiolipomas of the kidney resistant to treatment. She also underwent subependymal giant cell astrocytoma brain tumor resection. The patient was treated with everolimus after recurrent embolization failed to shrink the renal angiolipomas. The tumors responded well to treatment. Conclusions: Skin lesions disappeared, and fundus photos and repeat retinal optical coherence tomography measurements documented shrinkage of the retinal hamartomas during the 24 months of treatment. We conclude that a simple eye examination can monitor treatment effectiveness.
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