Imaging in Neurofibromatosis Type 2: Screening Using Magnetic Resonance Imaging

Neurofibromatosis Type 2 (NF2) is a genetic disorder associated with schwannomas, meningiomas, and ependymomas. Intracranial calcifications, either tumoral or non-tumoral, are relatively lesser known features of NF2. Here, we present a case of NF2, in which the diagnosis was suspected due to the presence of choroid plexus and subependymal calcifications, although no obvious schwannoma or meningioma was detected initially on standard computed tomography or magnetic resonance imaging. This case highlights the importance of further evaluation with appropriate imaging techniques.

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LINEAR ACCELERATOR-BASED STEREOTACTIC RADIOSURGERY FOR BILATERAL VESTIBULAR SCHWANNOMAS IN PATIENTS WITH NEUROFIBROMATOSIS TYPE 2

Neurosurgery ◽

10.1227/01.neu.0000325935.23852.9d ◽

2008 ◽

Vol 62 (suppl_5) ◽

pp. A37-A43 ◽

Cited By ~ 12

Author(s):

Otto W.M. Meijer ◽

W. Peter Vandertop ◽

Frank J. Lagerwaard ◽

Ben J. Slotman

Keyword(s):

Magnetic Resonance Imaging ◽

At Risk ◽

Hearing Loss ◽

Magnetic Resonance ◽

Facial Nerve ◽

Linear Accelerator ◽

Pure Tone ◽

Neurofibromatosis Type ◽

Resonance Imaging

ABSTRACT OBJECTIVE Patients with neurofibromatosis Type 2 (NF2) patients typically have bilateral vestibular schwannomas (VS) and are at risk for developing bilateral deafness, bilateral trigeminal, and bilateral facial nerve function loss. Previous reports suggested that treatment outcomes in these patients are worse compared with those for patients with sporadic solitary VS. Very few reports, however, have been published on linear accelerator-based radiosurgery (RS) and stereotactic radiation therapy (SRT) in patients with NF2. In particular, in patients with NF2 who already have unilateral hearing loss, avoidance of hearing loss on the opposite side poses a challenge for RS and SRT. We studied our treatment results in patients with NF2 with bilateral VS, treated with linear accelerator-based RS and SRT. METHODS In 204 patients with VS treated with RS or SRT in Amsterdam starting from 1992, we identified 25 patients with NF2 who had bilateral tumors. Indications for treatment were either tumor progression on sequential magnetic resonance imaging scans and/or progressive hearing loss. Mean tumor diameter was 2.5 cm. Stereotactic irradiation was administered to all patients using five noncoplanar arcs with a single isocenter to a dose of 10 to 12.5 Gy in a single fraction or 20 to 25 Gy in five fractions in 1 week prescribed to the 80% isodose encompassing the tumor. On the untreated side, all patients showed hearing loss and eight (32%) had ipsilateral deafness. Five patients were followed for less than 1 year. Of the remaining 20 patients, five had ipsilateral deafness before treatment. Consequently, 15 patients were at risk for treatment-related hearing loss. They showed a mean pure tone average (PTA) of 51 dB (8–112 dB) before treatment. After treatment all patients were assessed at yearly intervals including magnetic resonance imaging and pure tone audiometry. RESULTS Median follow-up time was 51 months (12–109 mo). Local tumor control was obtained in all 20 patients, and no treatment-related trigeminal or facial nerve toxicity was observed. Hearing status was assessed yearly after treatment. This assessment revealed that the mean PTA in the 15 hearing patients dropped from 51 to 77 dB (40–120 dB). In six patients (40%) the additional PTA loss ranged from 0 to 15 dB, in another six (40%) it ranged from 15 to 45 dB, and in three of these patients (20%), it was more than 45 dB. No additional hearing loss was observed beyond 36 months after treatment. CONCLUSION In this largest series in the literature of linear accelerator-based RS and SRT for VS NF2 patients, excellent local control rates were found with minimal facial and trigeminal nerve toxicity. Although more than 40% of the patients retained their hearing level or lost less than 15 dB of PTA on the irradiated side, preservation of hearing remains a major concern.

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Faculty Opinions recommendation of Elevated tissue sodium deposition in patients with type 2 diabetes on hemodialysis detected by 23Na magnetic resonance imaging.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732704994.793552860 ◽

2018 ◽

Author(s):

Joshua Thurman

Keyword(s):

Magnetic Resonance Imaging ◽

Type 2 Diabetes ◽

Magnetic Resonance ◽

Resonance Imaging ◽

23Na Magnetic Resonance Imaging ◽

Tissue Sodium

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Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

BMC Neurology ◽

10.1186/s12883-021-02201-z ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

David Fear ◽

Misha Patel ◽

Ramin Zand

Keyword(s):

Magnetic Resonance Imaging ◽

Family History ◽

Magnetic Resonance ◽

Familial Hemiplegic Migraine ◽

Imaging Findings ◽

Resonance Imaging ◽

Hemiplegic Migraine ◽

Magnetic Resonance Imaging Mri ◽

Mri Changes

Abstract Background Hemiplegic migraines represent a heterogeneous disorder with various presentations. Hemiplegic migraines are classified as sporadic or familial based on the presence of family history, but both subtypes have an underlying genetic etiology. Mutations in the ATP1A2 gene are responsible for Familial Hemiplegic type 2 (FHM2) or the sporadic hemiplegic migraine (SHM) counterpart if there is no family history of the disorder. Manifestations include migraine with aura and hemiparesis along with a variety of other symptoms likely dependent upon the specific mutation(s) present. Case presentation We report the case of an adult man who presented with headache, aphasia, and right-sided weakness. Workup for stroke and various infectious agents was unremarkable during the patient’s extended hospital stay. We emphasize the changes in the Magnetic Resonance Imaging (MRI) over time and the delay from onset of symptoms to MRI changes in Isotropic Diffusion Map (commonly referred to as Diffusion Weighted Imaging (DWI)) as well as Apparent Diffusion Coefficient (ADC). Conclusions We provide a brief review of imaging findings correlated with signs/symptoms and specific mutations in the ATP1A2 gene reported in the literature. Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, which may include transient changes in ADC and DWI imaging throughout the course of an attack.

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