Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?
Shazia K AfridiSuki ThomsonSteve E J ConnorDaniel C WalshRosalie E FernerPublished in: American journal of medical genetics. Part A (2017)
There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. In our unit NF2 patients undergo annual MRI brain and internal auditory meatus imaging. We noted incidental intracranial aneurysms in some patients and sought to determine the prevalence of intracranial aneurysms in our cohort of NF2 patients. We conducted a retrospective audit of the MRI images of 104 NF2 patients from 2014 to 2016. Axial T2 brain MRI images were assessed for vascular abnormalities by two neuroradiologists blinded to patient's clinical details. Intracranial aneurysms were detected in four patients and an aneurysm clip related to previous surgery was noted in one additional patient. Using standard MRI imaging sequences alone we provide evidence of intracranial aneurysms in 4.4% of our cohort. This compares with an estimated overall prevalence of 3% in the general population. We discuss these findings as well as other evidence for a vasculopathy associated with NF2.
Keyphrases
- end stage renal disease
- ejection fraction
- newly diagnosed
- signaling pathway
- oxidative stress
- prognostic factors
- emergency department
- computed tomography
- randomized controlled trial
- clinical trial
- deep learning
- patient reported outcomes
- mass spectrometry
- coronary artery
- endothelial cells
- brain injury
- multiple sclerosis
- convolutional neural network
- working memory
- toll like receptor