Neurofibromatosis type II

Clinical history
In this 24-year-old patient, the diagnosis of neurofibromatosis type II was made at the age of seven when a cutaneous lesion was removed. A the age of eighteen, he presented with loss of equilibrium and progressive hearing loss. Bilateral acoustic neuromas were found. At the spinal level, MRI disclosed multiple neurofibromas. Finally, an intramedullary lesion was also observed at the level of the bulbo-medullary junction.

Image 1: Sagittal Gd T1WI. On this midsagittal Gadolinium enhanced image, an intramedullary lesion is shown as a patchy irregular area of contrast enhancement (arrows).
Image 2: Axial Gd T1WI. These images confirm the central location of the lesion corresponding most probably to an ependymoma.
Image 3: Sagittal Gd T1WI. These sagittal Gadolinium enhanced images demonstrate multiple neurofibromas located at the level of C4-C5. Smaller lesions are also seen at the mid-thoracic level. At the level of Th7, a second intramedullary lesion is found (arrow).
Image 4: Axial Gd T1Wi at the level of C4-C6. A large neurofibroma is clearly seen on the left extending through the neural foramen. A smaller neurofibroma is also observed on the dorsal root of C5 on the left side.

Comment
In neurofibromatosis type II, multiple intra-cranial lesions may be found. Typically spinal lesions are also common including multiple intradural extramedullary masses (meningiomas and/or schwannomas) as well as intramedullary tumors (typically ependymomas).

Search also:
- Ependymoma

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