QUIZ: No. 24, 23/08/2025

MRI

MRI

MRI

ANS – Neurofibromatosis 2

Neurofibromatosis type 2 is a rare autosomal dominant disorder characterized by multiple nervous system tumors, particularly bilateral vestibular schwannomas. NF2 patients often have multiple intracranial and spinal tumors, including meningiomas, ependymomas, and other cranial/spinal nerve schwannomas.

Manchester Diagnostic Criteria for Neurofibromatosis Type 2 (NF2):

A diagnosis of NF2 can be made if:

1. Bilateral vestibular schwannomas on MRI

(This is the hallmark feature.)

OR

2. A first-degree relative with NF2 AND

Unilateral vestibular schwannoma OR

Any two of the following:

Meningioma

Glioma (usually spinal ependymoma)

Schwannoma (non-vestibular)

Juvenile posterior subcapsular lens opacity or cataract

OR

3. Multiple meningiomas AND unilateral vestibular schwannoma OR

multiple meningiomas AND any two of the following:

Schwannoma

Glioma

Juvenile posterior subcapsular lens opacity/cataract

Take home points

1.     Diagnostic hallmark: Bilateral vestibular schwannomas on MRI.

2.     Associated with multiple meningiomas and spinal ependymomas.

3.     Requires full neuroaxis imaging for complete evaluation and follow-up.