Case of the Month

Hearing loss and weakness

Diagnosis

Neurofibromatosis type 2

Investigation

Patient 1
Left Image: Axial T1 with gadolinium contrast showing bilateral vestibular schwannomas (acoustic neuromas) and multiple meningiomas. In this case there had been previous surgery.
Centre Image: Coronal T1 with gadolinium contrast showing peripheral nerve sheath tumours involving the neck, mediastinum and axilla.
Right Image: Sagital T1 with gadolinium contrast showing numerous nerve sheath tumours of the lower thoracic and lumbar spinal nerves within the spinal canal.

 

 

Patient 2
Left Image: Axial T1 with gadolinium contrast showing an ependymoma in the lower medulla oblongata.
Centre Image: Coronal T1 with gadolinium showing numerous ependymomas as well as the bilateral vestibular schwannomas and unmarked peripheral nerve sheath tumours.
Right Image: Axial T2 showing the bilateral vestibular schwannomas.

 

Discussion

Neurofibromatosis type 2 (NF 2) is an autosomal dominant neurocutaneous syndrome that typically becomes symptomatic during the third decade of life. NF 2 is less common than NF 1. Appoximately 50% of cases occur in families while the remainder are due to new mutations.

It is characterised by bilateral vestibular schwannomas (at least 1 is required for the diagnosis), schwannomas of other cranial and peripheral nerves, multiple meningiomas and ependymomas.