Neurofibromatosis Type 2 Diagnosis
Definite diagnosis if either:
1. Bilateral vestibular schwannomas (VS) on imaging (MRI or CT) or
2. A first degree relative (parent, sibling or offspring) with NF2 and either:
a) Unilateral VS at age <30 years or
b) Any two of the following: meningioma, schwannoma (including spinal root), glioma (includes astrocytoma, ependymoma), posterior subcapsular lens opacity
Probable diagnosis if either:
1. Unilateral VS at age <30 and any of the following: meningioma, schwannoma, glioma, posterior subcapsular lens opacity or
2. Multiple meningiomas and either of the following: schwannoma, glioma, or posterior lens opacity.
Dermatological lesions are frequent and early in children with Neurofibromatosis Type 2 but rarely lead to the diagnosis. Cutaneous schwannomas are the most frequent but are often underdiagnosed. Café au lait macules are frequent, but atypical and mostly in small numbers. Multiple hypopigmented macules seem suggestive although inconsistent. The sensitivity of reticulated capillary malformation-like lesions remains to be assessed by further studies 1).
The nature of this devastating genetic disease requires ongoing MRI for the patient's lifespan.
Today, most auditory brainstem implants require removal of the magnet that connects the internal device to the external speech processor to undergo imaging as their disease progresses. Patients have the option of having a short procedure to have the magnet taken out and replaced each time, or alternately using a headband to secure the processor over the receiver coil of the internal device. Novel magnet technology has led to the development of a freely rotating magnet that can be used inside the magnetic field of an MRI scanner without losing magnet strength and without being displaced from the body of the device. We report one of the first patients implanted with a Med-El Synchrony ABI in the United States who subsequently underwent successful imaging with MRI 1.5 tesla to follow for other existing schwannomas 2).
Ultrasound patterns of peripheral nerve pathologies are described for the first time in a large cohort of patients with NF1 and NF2. It is a suitable screening tool and enables targeted MRI analysis 3).