Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
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DOI：
10.1002/ajmg.a.20211
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发表时间：
2003-10-01
影响因子：
2
通讯作者：
Gutmann, DH
中科院分区：
文献类型：
--
作者：
King, A;Listernick, R;Gutmann, DH
患有 1 型神经纤维瘤病 (NF1) 的儿童可能会出现视神经胶质瘤 (OPG)，并可能进展为视力丧失或其他神经系统症状。这些肿瘤可能由于患者体征或症状或“基线”神经影像学研究的偶然发现而变得明显。为了确定有症状和无症状的 OPG 儿童之间是否存在差异，我们利用两个大型 NF1 转诊中心的数据对 90 名 NF1 和 OPG 儿童进行了回顾性队列研究。对最初因 OPG 出现症状的儿童 (n = 51) 的诊断年龄、出现症状、肿瘤位置、相关特征和临床反应进行评估，并与通过 MRI 偶然发现肿瘤的无症状儿童 (n = 39) 的类似数据进行比较。各组之间的就诊年龄、肿瘤位置、NF1 相关症状或临床反应没有差异。最初有症状的儿童比那些偶然发现的无症状 OPG 的儿童更有可能需要治疗（OR：14.8，95% CI [1.9-116.7]）。尽管 36% 的 OPG 在 6 岁以上的儿童中被诊断出来，但没有人接受过神经影像学检查，并且只有两名儿童之前的眼科检查正常，这表明该组中绝大多数 OPG 是长期存在的、未确诊的肿瘤。基于这些发现，我们不主张对 NF1 儿童进行“基线”MRI，但强烈建议所有 10 岁及以下的 NF1 儿童进行完整的年度眼科评估。 (C) 2003 Wiley-Liss, Inc.
Children with neurofibromatosis type 1 (NF1) may present with optic pathway gliomas (OPG) that can progress to visual loss or other neurologic symptoms. These tumors may become evident either as a result of patient signs or symptoms or as an incidental finding on "baseline" neuroimaging studies. In an attempt to determine if there were differences between symptomatic and asymptomatic children with OPG, a retrospective cohort study of ninety children with NF1 and OPG was performed using data from two large NF1 referral centers. Age at diagnosis, presenting symptoms, tumor location, associated features, and clinical response were assessed for children who were initially symptomatic from their OPG (n=51) and compared to similar data of asymptomatic children whose tumors were incidentally discovered by MRI (n = 39). There were no differences in age at presentation, tumor location, NF1-associated symptoms, or clinical response between the groups. Initially symptomatic children were much more likely to require treatment (OR: 14.8, 95% CI [1.9-116.7]) than those with incidentally discovered, asymptomatic OPG. Although 36% of OPG were diagnosed in children over the age of 6 years, none received prior neuroimaging and only two children had previously normal eye examinations, suggesting that the vast majority of OPG in this group were longstanding, undiagnosed tumors. Based on these findings, we do not advocate "baseline" MRI in children with NF1, but strongly recommend that all children of the age 10 years and younger with NF1 have complete annual ophthalmologic evaluations. (C) 2003 Wiley-Liss, Inc.