Life threatening plexiform neurofibroma of a young child

Abstract

Aim: To report a child with an extensive tumor invading multiple anatomical structures within the left side of her neck. Material and methods:Presentation of a case including patient's history, physical exam, molecular data, MRI imaging, histopathology and molecular genetics. Results:The life-threatening compression as well as the dislocation of the trachea required meticulous surgical removal of the tumor. Histology revealed a plexiform neurofibroma related to a frame shift mutation in the NF1 gene. Conclusion:Surgical removal of this extensive tumor saved the patient's life. The long term success of management will be related to the effectiveness of the maintenance therapy that currently includes interferon-α2a. This report highlights unique aspects of a rare but life threatening condition in a young girl.