摘要：

目的 总结Ⅰ型神经纤维瘤病患者 T₂WI 不明原因亮点的特点、分布和年龄相关性，以为疾病早期诊断提供依据。方法与结果 对 2014 年 6 月至 2017 年 12 月就诊的 3 个Ⅰ型神经纤维瘤病家系中 3 例患者和 3 例散发患者临床资料的分析提示，广泛分布于全身皮肤的咖啡牛奶斑为其首发症状；T₂WI存在不明原因亮点（2 例）的患者年龄 < 18 岁（14 和 16 岁），病灶呈多发性，以丘脑受累为主，临床表现为智力发育迟缓、癫痫发作、头痛。结论 T₂WI 不明原因亮点是年龄 < 18 岁的Ⅰ型神经纤维瘤病患者的特征性影像学改变，对青少年患者的早期诊断具有提示意义。

关键词: 神经纤维瘤病1型, 丘脑, 磁共振成像

Abstract:

Objective To provide the basis for early diagnosis of neurofibromatosis type 1 (NF1) through summarizing the characteristics and location of unidentified bright objects (UBOs) on T₂WI in NF1 patients and their correlation with age. Methods and Results Clinical data of 6 patients with NF1 (3 had family history and the others were sporadic cases) from June 2014 to December 2017 were collected and analyzed. All patients were initially presented with café-au-lait spots over the body, among whom 2 patients under 18 years old (14 and 16 years old) both showed multiple abnormal T₂WI UBOs on brain MRI mainly involving thalamus, and presented mental retardation, epileptic seizures and headache. Conclusions T₂WI UBOs were common imaging manifestations in NF1 patients under the age of 18 years, which had implications for the diagnosis of NF1 in young patients.

Key words: Neurofibromatosis 1, Thalamus, Magnetic resonance imaging