| 陈静,李欣,邵剑波.儿童神经纤维瘤病Ⅰ型:影像学研究现状与进展[J].中国医学影像技术,2025,41(10):1625~1627 |
| 儿童神经纤维瘤病Ⅰ型:影像学研究现状与进展 |
| Status and advancements in imaging research of neurofibromatosis type 1 in children |
| 投稿时间：2025-06-13 修订日期：2025-10-13 |
| DOI：10.13929/j.issn.1003-3289.2025.10.002 |
| 中文关键词: 儿童 神经纤维瘤病1型 神经纤维瘤,丛状 磁共振成像 正电子发射断层显像 |
| 英文关键词:child neurofibromatosis 1 neurofibroma, plexiform magnetic resonance imaging positron-emission tomography |
| 基金项目: |
|
| 摘要点击次数: 130 |
| 全文下载次数: 49 |
| 中文摘要: |
| 神经纤维瘤病Ⅰ型(NF1)属于神经皮肤综合征,是罕见的常染色体显性遗传性疾病,可累及多个器官与系统,患者首诊年龄横跨新生儿期直至老年期各阶段。NF1临床表现各异并具有年龄依赖性,且其出现时间和严重程度存在差异。随着对罕见病关注度的提高及相关诊断标准的修正,越来越多NF1病例可在儿童期获得及时诊断。本文就影像学研究儿童NF1的现状与进展进行述评。 |
| 英文摘要: |
| Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome and a rare autosomal dominant hereditary disorder able to affect multiple systems and organs, and the age of initial diagnosis crossing neonates to elderly. NF1 has more age-dependent clinical manifestations with changeable onset and severity. With the increased attention to rare diseases and revisions of diagnostic criteria, more and more NF1 were timely diagnosed in childhood. The status and advancements in imaging research of NF1 in children were reviewed in this article. |
| 查看全文 查看/发表评论 下载PDF阅读器 |
