Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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April 21, 2014
Neurofibromatosis Type 2
- Neurofibromatosis type 2 is a disorder of multiple tumors, including schwannomas, meningiomas, and ependymomas (MISME).
- It is caused by an inherited (autosomal dominant) or de novo defect of the NF2 tumor suppressor gene on chromosome 22q.
- Key Radiologic Features:
- Schwannomas: Bilateral vestibular schwannomas occur in 90–95% of patients with NF2. According to Manchester diagnostic criteria (the most widely used), the presence of bilateral vestibular schwannomas is sufficient to render a diagnosis of NF2. Although they are histologically benign, they are associated with a high rate of bilateral hearing loss.
- Meningiomas: Intracranial meningiomas occur in 45–58% of patients with NF2. They tend to be multiple and occur at a younger age than sporadic meningiomas. Extradural meningiomas are rare, accounting for 1–2% of all meningiomas.
- Meningioangiomatosis is associated with NF2. It is characterized by transcortical and leptomeningeal meningovascular proliferation with focal calcifications. It appears as a plaque-like lesion with variable enhancement and calcification.
- Ependymomas occur in 18–53% of patients with NF2. Our patient had no evidence of ependymomas.
- NF2 patients may also have ocular manifestations, which include lens opacities, early onset of cataracts, epiretinal membranes, and retinal hamartomas. Retinal hamartomas are slightly raised masses that can cause retinal detachment. Our patient had a history of retinal detachment treated with intraocular silicone and band placement 10 years prior to the current presentation.
- DDx (current case): Fibrous dysplasia with sarcomatous degeneration, metastasis
- Rx: Surgical resection, radiation therapy; cochlear implantation for hearing loss
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