Clinical presentation of a group of NF2 patients to a tertiary referral skull base unit

Abstract

The objective of the investigation was to document the clinical presentations of a group of patients with neurofibromatosis type two syndrome (NF2), and took the form of a retrospective case note review.The investigation took place in the tertiary referral skull base unit. The dominant presentation of patients with NF2 is with auditory/vestibular symptoms (56%), with a smaller proportion of presentations being due to non-acoustic intracranial and spinal tumours (44%). At the time of presentation the majority of clinically significant tumours could be demonstrated in each patient with MRI of the head and spine, with few new tumours arising during the subsequent follow-up period. The range of presentation of patients with NF2 results in their management being fragmented into a variety of clinical settings, diluting the experience amassed in any one centre.

• Neurofibromatos 2 Presentation