Case 12075

Neurofibromatosis type 2

Chirag Kanjibhai Ghodasara, Nisha Satishkumar Doshi

meenaxi misison hospital and research centre

Section: Neuroradiology
Published: 2014, Sep. 7
Patient: 25 year(s), male

Authors' Institution
Sanya Diagnostics,
Rajkot Civil Hospital,
Rajkot, Gujarat, India
Email: drchiragghodasara@gmail.com

Clinical History
The patient presented with sudden unconsciousness. The patient had suffered from severe headache
and decreased hearing for a long time.

Imaging Findings
MRI brain revealed bilateral cerebellopontine angle extra-axial lesions with internal auditory canal
extension. On post-contrast study the lesions showed intense enhancement. Both lesions extended
into the jugular fossa. Internal haemorrhage was seen in the left-sided lesion. Both lesions were
causing severe compression over pons. This suggested bilateral acoustic schwannoma.
Multiple intensely enhancing extra-axial lesions were seen in the left frontal region, falcine region,
left petrous region. The lesions showed intense enhancement on post-contrast study. All lesions
were broad-based towards the dura with dural tail enhancement on post-contrast study. The left
frontal lesion was large and caused mass effect. This suggest multiple meningiomas.
Discussion
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder
(phakomatosis) manifesting as development of multiple CNS tumours. [1, 2, 3]
Neurofibromatosis type 2 is also known as central neurofibromatosis or bilateral acoustic
schwannomas or MISME syndrome (Multiple Inherited schwannomas, meningiomas and
ependymomas ). [4] In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because
neurofibromas are not a part of its constellation of abnormalities. [4]
The neoplasms usually develop in adult patients - but the predisposition is inherited via a mutational
loss of a tumour supressor gene on the long arm of chromosome 22. This gene codes for a protein
pNF2 or "schwannomin" - also called "merlin". Although meningiomas are often an isolated
findings in adults, their presence in a child should raise suspicion regarding NF2. The presence of
multiple and different types of spinal tumours also raise high suspicion of NF2. [1, 5]
Cutaneous markers are rarer in NF2 as compared to NF-1. CNS lesions are seen in virtually all
cases and include neoplasms, non-neoplastic intra-cranial calcifications and spinal cord nerve root
tumours. CN VIII schwannomas are a hallmark of diseases most frequently affecting the 8th nerve
complex. Unilateral tumours arise from vestibular nerve but schwannomas can be found involving
any cranial nerve from CN III to CN XIII, with CN V as the next most frequently involved. [6]
Intracranial meningiomas found in NF2 are usually multiple and appear as well-circumscribed
intensely enhancing extraxial masses with dural attachment. Ependymomas are most common
intraparenchymal tumour in NF2. Spinal tumours seen in NF2 include schwannomas, meningiomas
and ependymomas. Schwannomas may present as intradural extramedullary masses. Benign
intracranial calcifications, particularly of choroids plexus, cerebellar hemispheres and cerebral
cortex in association with NF2 are seen. Ocular abnormalities including juvenile posterior
subcapsular lenticular opacity, hamartomas of retina and choroids are common. [6]
Diagnostic criteria for NF2
Confirmed (Definite) NF2:
1. Bilateral vestibular schwannomas (VS) (also known as acoustic neuroma)
Presumptive (Probable) NF2:
1. Family history of NF2 (first degree family relative) plus:
2. Unilateral vestibular schwannomas or any two of the following: meningioma, glioma,
schwannoma, juvenile posterior subcapsular lenticular opacity, juvenile cortical cataract.
Individuals with the following clinical features should be evaluated for NF2:
1. Unilateral VS plus at least two of any of the following: meningioma, glioma, schwannoma,
juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
2. Multiple meningiomas (2 or more) plus unilateral VS or any two of the following: glioma,
schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract. [5]

Final Diagnosis
Neurofibromatosis type 2

Differential Diagnosis List

Neurofibromatosis type 1, Meningiomatosis
Figures

Figure 1 MRI - T2 images

Axial T2 image revealed bilateral acoustic schwannoma and left petrous meningioma.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Diagnostic procedure;
Special Focus: Neoplasia;

Coronal T2 image revealed bilateral acoustic schwannoma causing severe compression over
pons.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Diagnostic procedure;
Special Focus: Neoplasia;

Figure 2 MRI - T1 image

 Axial T1 image revealed bilateral acoustic schwannoma and left petrous meningioma.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Diagnostic procedure;
Special Focus: Neoplasia;

Figure 3 MRI - Post-contrast T1 images

Post-contrast axial T1 image revealed two small falx meningiomas.

© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Contrast agent-intravenous;
Special Focus: Neoplasia;

Post-contrast axial T1 image revealed bilateral acoustic schwannoma and left petrous
meningioma.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Contrast agent-intravenous;
Special Focus: Neoplasia;

Post-contrast coronal T1 image revealed bilateral acoustic schwannoma extending into

jugular fossa on both sides.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Contrast agent-intravenous;
Special Focus: Neoplasia;

Post-contrast coronal T1 image revealed bilateral acoustic schwannoma extending into

jugular fossa on both sides.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Contrast agent-intravenous;
Special Focus: Neoplasia;
 Post-contrast coronal T1 image revealed large left frontal convexity meningioma and small
left petrous meningioma.
© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Contrast agent-intravenous;
Special Focus: Neoplasia;

Figure 4 MRI - GRE images

GRE image revealed areas of blooming in left-sided schwannoma.

© SANYA DIAGNOSTICS , RAJKOT CIVIL HOSPITAL , RAJKOT , GUJARAT, INDIA

Area of Interest: Neuroradiology brain;

Imaging Technique: MR;
Procedure: Diagnostic procedure;
Special Focus: Neoplasia;

References
[1] Mautner VF, Tatagiba M, Lindenau M (1995) Spinal tumors in patients with neurofibromatosis
type 2: MR imaging study of frequency, multiplicity, and variety AJR 165 (4): 951-5

[2] Evans DG, Sainio M, Baser ME (2000) Neurofibromatosis type 2 J. Med. Genet 37 (12):
897-904
 [3] Patronas NJ, Courcoutsakis N, Bromley CM (2001) Intramedullary and spinal canal tumors in
patients with neurofibromatosis 2: MR imaging findings and correlation with genotype Radiology
218 (2): 434-42.

[4] Smirniotopoulos JG, Murphy FM (1992) The phakomatoses AJNR 13 (2): 725-46

[5] Evans DG (2009) Neurofibromatosis type 2 (NF2): A clinical and molecular review Orphanet
Journal of Rare Diseases 4:16

[6] S Aneja, R Sangal, M Murthy, S Sethi (2008) Cranial and Spinal involvement in
Neurofibromatosis type 2 The Internet Journal of Radiology Volume 10 Number 2.

Citation
Chirag Kanjibhai Ghodasara, Nisha Satishkumar Doshi (2014, Sep. 7)
Neurofibromatosis type 2 {Online}
URL: http://www.eurorad.org/case.php?id=12075