Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2019, Vol. 19 ›› Issue (3): 205-210. doi: 10.3969/j.issn.1672-6731.2019.03.011

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Brain MRI analysis of six patients with neurofibromatosis type 1

ZHU Hua-qian1, LI Lei2, JIN Feng2, OUYANG Yi2   

  1. 1Department of Clinical Nutrition, 2Department of Neurology, the First Hospital of China Medical University, Shenyang 110001, Liaoning, China
  • Online:2019-03-25 Published:2019-03-28
  • Contact: ZHU Hua-qian (Email: tina.zhq@163.com)

Ⅰ型神经纤维瘤病六例磁共振成像特点分析

朱华倩, 李蕾, 金枫, 欧阳嶷   

  1. 110001 沈阳,中国医科大学附属第一医院临床营养科(朱华倩),神经内科(李蕾、金枫、欧阳嶷)
  • 通讯作者: 朱华倩,Email:tina.zhq@163.com

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

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