26y male known with NF2, presenting with new onset seizures seen at C15 and discharged 2 days

ys previously, now readmitted with decreasing LOC now GCS ~ 10/15

Multiple intracranial schwannomas Cervical spine ependymoma at C4/5 Multiple spinal schwannomas and/or meningiomas large schwannoma involving left L5 nerve root Multiple enhancing subcutaneous scalp lesions

NF first described by von Recklinghausen in late 1800s series of patients - combination of cutaneous lesions and peripheral and central nervous system tumours NF2 only recognised in early 20th C and only truly distinguished from NF2 in 1981 NF1 and NF2 are two very different diseases with a few overlapping features longstanding misunderstanding/confusion The term neurobromatosis is a misnomer, because the primary tumour types in NF2 are schwannoma and meningioma

3 subtypes:
Neurofibromas (NF1) Schwannomas (NF2) Malignant peripheral nerve sheath tumours

(MPNSTs) (NF1)

Neurofibromas: mixture of proliferated Schwann cells, as well as fibroblasts and pericytes Schwannomas: composed entirely of neoplastic Schwann cells

Source: Yohay, K.: Neurofibromatosis Types 1 and 2 in The Neurologist Volume 12, Number 2, March 2006

Neurofibromas are rarely found in NF2 which has led some to propose that the disease be termed schwannomatosis or MISME syndrome: Multiple intracranial schwannomas Meningiomas Ependymomas

NF2 is present in a person who has either of the following: 1. Bilateral eighth nerve masses seen with appropriate imaging techniques (eg MRI or CT) 2. A rst degree relative with NF2 AND either unilateral eighth nerve mass or 2 of the following: Glioma Meningioma Schwannoma Neurobroma Juvenile posterior subcapsular lenticular opacity

Unilateral VS < 30 years plus at least 1 of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities OR Multiple meningiomas (2) plus unilateral VS < 30 years OR 1 of the following: glioma, schwannoma, juvenile posterior subcapsular lenticular opacities

Gutmann DH, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. Jul 2 1997;278(1):51-7. in Wagner, AL.

Cardinal feature of NF2 can arise from the cranial nerves (particularly the 8th cranial nerve), spinal roots, or any nerve distal to the spinal cord Vestibular schwannomas:

typically slow growing gradual deterioration

in hearing Balance and other cranial nerve functions may become impaired Brainstem compression and obstructive hydrocephalus can occur

Vestibular schwannomas
CT: Strongly but heterogenously enhancing

CPA masses that extend from the IAC MRI: often have heterogeneous signals, but they are typically isointense to hypointense on T1-weighted images and hyperintense on T2-weighted images; enhance avidly but often heterogenously

Spinal schwannomas
Arise from dorsal spinal roots Present in >80% of pts with NF2 Usually small and asymptomatic but can

cause spinal cord compression dumbbell-shaped enhancing masses extending out the neural foramina or intradural extramedullary masses in the spinal canal Can be radiologically indistinguishable from neurofibromas arising from spinal roots in NF1

Peripheral schwannomas can arise from any nerve, superficial or deep

Subcutaneous nodules Slighly raised, well-circumscribed cutaneous

lesions

Cutaneous schwannomas are seen in up to half of NF2 patients, but are generally a fairly minor component of the disorder.

Occur in ~ one half of patients with NF2 Most are intracranial, however spinal meningiomas can occur Intracranial:

CT - enhancing extra-axial masses often with

internal calcifications and adjacent hyperostosis - best visualized with bone windows MRI typically isointense with gray matter on all sequences and, when small, can be difficult to detect without contrast; signal intensity can vary; gadolinium: intense and generally homogeneous enhancement

Spinal
intradural extramedullary masses usually thoracic spine occasionally, extend into neural foramina

and appear as dumbbell-shaped masses with widening of the neural foramina difficult to distinguish from schwannomas or neurofibromas, although the schwannoma should be brighter on T2-weighted images

Usually spinal but can be intracranial seen most frequently in cervical cord and conus Cord tumors are well-marginated, enhancing (CT & MRI) lesions, frequently associated with cyst formation and haemorrhage. May be iso- or hypointense relative to spinal cord on T1 and always bright on T2 Conus ependymomas are more often large tumors that can fill entire spinal canal with heterogeneous signal and enhancement

T1, post contrast

T1, post contrast

NF is a complex genetic disease with a very variable presentation It is always a diagnostic possibility that should be borne in mind in unusual clinical and radiological presentations

Evans, D.G.R.: Neurofibromatosis 2 in Genetics in Medicine Volume 11, Number 9, September 2009 Khan, N., van der Werke, I. et al: Neurofibromatosis Revisited: A Pictorial Review in SA Journal of Radiology, March 2010 Wagner, A.L.: Neurofibromatosis Type 2 in http://emedicine.medscape.com/article/342667 Yohay, K.: Neurofibromatosis Types 1 and 2 in The Neurologist Volume 12, Number 2, March 2006