Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1
Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1
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DOI：
10.1002/ajmg.a.20650
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发表时间：
2004-06-15
影响因子：
2
通讯作者：
Plon, SE
中科院分区：
文献类型：
--
作者：
Blazo, MA;Lewis, RA;Plon, SE
约 15% 的 1 型神经纤维瘤病 (NF1) 患者会出现视通路肿瘤 (OPT)，并可能导致严重的视力丧失。由于在发现时无法预测其生长情况，因此对无症状 NF1 患者进行 OPT 的神经影像学检查仍存在争议。我们评估了 1996 年至 2001 年间，在一个机构的神经纤维瘤病和遗传学多学科诊所就诊的 NF1 幼儿，通过 MRI 和眼科检查对 OPT 进行系统筛查的结果。我们报告了 84 名 6 岁以下患有 NF1 的儿童，其中 13 名儿童出现已知的 OPT 或异常 MRI 结果，11 名儿童通过神经影像学发现了 OPT，其中包括 2 名在 2017 年眼部检查异常的儿童。表现（一名患有斜视，一名患有视神经萎缩）。在眼科检查正常的无症状受试者中检测到 9 个 OPT。随后 MRI 检查中交叉病变扩大的三名儿童接受了卡铂和长春新碱治疗。治疗后，每只受影响眼睛的视力均完好无损。相比之下，在筛查指南之外诊断出患有 OPT 的 13 名儿童中，有 5 名患有严重视力丧失。我们的观察表明，早期识别 NF1 可以促进适当的监测，并允许早期干预以减少 OPT 的并发症。该分析支持前瞻性研究，以比较神经影像学系统筛查与单独眼科检查筛查 NF1 儿童的结果。 (C) 2004Wiley-Liss, Inc.
Optic pathway tumors (OPT) occur in about 15% of individuals with Neurofibromatosis Type 1 (NF1) and may effect substantial visual loss. Because their growth is not predictable at the time of discovery, neuroimaging for OPT in asymptomatic NF1 patients remains controversial. We evaluated the outcomes of systematic screening by both MRI and ophthalmic examinations for OPT in young children with NF1 seen at multidisciplinary clinics for Neurofibromatosis and Genetics at one institution between 1996 and 2001. We report on 84 children who presented with NF1 under age 6 years, of whom 13 children presented with either known OPT or abnormal MRI findings and 11 children had OPTs identified by neuroimaging, including two children with abnormal eye examinations at presentation (one with strabismus and one with optic atrophy). Nine OPTs were detected in asymptomatic subjects with normal ophthalmic examinations. Three children with chiasmal lesions enlarging on subsequent MRI were treated with carboplatin and vincristine. After treatment, the vision in each involved eye was intact. In contrast, the 13 children with OPT diagnosed outside of screening guidelines included five children with substantial visual loss. Our observations suggest that early recognition of NF1 promotes appropriate surveillance and allows early intervention to reduce complications of OPT. This analysis supports prospective studies to compare the outcomes of systematic screening with neuroimaging to screening with ophthalmic examinations alone in children with NF1. (C) 2004Wiley-Liss, Inc.