CASE 13165 Published on 07.12.2015

Neurofibromatosis type 2



Case Type

Clinical Cases


Carolina Figueira, Joana Teresa Pinto, Teresa Garcia

Hospital Pediátrico - Centro Hospitalar e Universitário de Coimbra; Coimbra; Portugal;

12 years, female

Area of Interest Neuroradiology brain, Neuroradiology spine, Paediatric ; Imaging Technique CT, MR
Clinical History
A 12-year-old girl presented with headache and hearing impairment. There was no other relevant clinical history.
Imaging Findings
Initial brain and cervical spine CT (Figure 1) showed slight hyperdense bilateral internal auditory canal masses, with enlarged cervical spinal canal.
Axial T2-weighted (Figure 2) and axial T1-weighted post-contrast images (Figure 3) demonstrate bilateral internal auditory canal-enhancing masses, compressing the pons and 4th ventricle, compatible for bilateral vestibular schwannomas.
Sagittal cervical T2-weighted image (Figure 4), coronal T2-weighted (Figure 5) and post-contrast sagittal T1 (Figure 6) demonstrate an intra-dural extra medullary enhancing tumour, causing left shift of the spinal cord. The post operative diagnosis was a meningioma.
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumours. The most common tumour associated with the syndrome is the vestibulo-cochlear (cranial nerve VIII) schwannoma, and as many as 10% of patients with this tumour have NF2 [1, 2]. Although it shares a name with neurofibromatosis type 1 (NF1; von Recklinghausen disease), the two diseases are separate entities.
The clinical presentation of NF2 varies, but approximately a range of 30-45% of patients are diagnosed because of symptoms resulting from cranial nerve (CN) dysfunction, such as hearing loss, tinnitus, balance impairment, and weakness in CN VII distribution [1].
Axial T2-weighted images (figure 2) and an axial T1-weighted post contrast image (figure 3) demonstrates bilateral internal auditory canal-enhancing masses, compatible for bilateral vestibular schwannomas, that are definitive diagnostic for NF2 (no biopsy is necessary for the diagnosis). Although meningiomas and schwannomas are often an isolated finding in adults, their presence in a child should raise suspicion regarding NF2. The presence of spinal tumours also raise high suspicion of NF2, as found in this case (figure 4-6).
Although our patient had no family history, the image findings of bilateral vestibular schwannoma and one extra medullary tumour (meningioma), suggested the diagnosis of NF2.
Differential Diagnosis List
Neurofibromatosis type 2
Neurofibromatosis type 1
Chiari 1 malformation
Final Diagnosis
Neurofibromatosis type 2
Case information
DOI: 10.1594/EURORAD/CASE.13165
ISSN: 1563-4086