最近审阅: 3 十一月 2020
最近更新: 21 十一月 2018

小结

定义

病史和体格检查

关键诊断因素

  • NF1 家族史
  • 任何部位的疼痛
  • 神经功能障碍:粗大动作延迟、全身动作失调、学校表现不佳
  • 受损的视力
  • 社交互动受损
  • 皮肤:咖啡牛奶斑、腋下雀斑、皮肤青少年黄色肉芽肿、神经纤维瘤
  • 头颈部:分布于三叉神经分支处的单侧弥漫性丛状神经纤维瘤
  • 眼科:视力损害、视盘苍白、虹膜色素结节
  • 中枢神经系统:脑积水、脑肿瘤和/或小脑异常的体征
  • 周围神经系统:颈部、臂丛、腹股沟、收肌管、或腘窝等处可触及的包块
  • 骨骼:胫骨发育不良或假关节、蝶骨嵴发育不良、漏斗胸或鸡胸、膝外翻或内翻、踝外翻、扁平足
  • 消化道:严重便秘、顽固性便秘、腹痛、消化道出血
  • 血管:神经异常、腹痛(和/或出血)
  • 自闭症谱系障碍
  • 血管:高血压

危险因素

  • 患有 NF1 的亲代
  • 严重挤压伤

诊断性检查

首要检查

  • MRI 和/或 CT 扫描
  • PET 扫描
  • 活检
  • 通过基因检测来确认 NF1 突变
更多 首要检查

治疗流程

撰稿人

Professor of Medical Genetics and Cancer Epidemiology

Genomic Medicine

School of Medicine

University of Manchester

Manchester

UK

利益声明

DGE is an author of several studies referenced in this monograph. He has also received a one-off consultancy fee from AstraZeneca.

Professor D. Gareth Evans would like to gratefully acknowledge Dr Vincent M. Riccardi, a previous contributor to this monograph. VMR is an author of several studies referenced in this monograph.

同行评议者展开全部内容

Professor

Department of Genetics

University of Alabama at Birmingham

Birmingham

AL

利益声明

BRK declares that he has no competing interests.

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

利益声明

PM declares that he has no competing interests.

Clinical Senior Lecturer and Honorary Consultant in Medical Genetics

Institute of Medical Genetics

Yorkhill Hospital

University of Glasgow

Scotland

UK

利益声明

EST declares that he has no competing interests.

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