Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review

Purpose Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder that primarily involves the skin and the nervous system. Development of cerebral arterial stenosis is a potentially deadly complication of NF1, which is frequently underestimated. The aim of our paper is to report the frequency of this cerebrovascular disease in a series of patients affected by NF1, using magnetic resonance angiography (MRA). A review of the literature was also performed, focused on the usefulness of MRA in NF1 patients. Materials and methods Among 125 patients with NF1 (clinical diagnosis according to the standard National Institutes of Health criteria), 81 (65 %) were studied with brain MRI (magnetic resonance imaging) and MRA using a 1.5 T magnet. Results Multiple intracranial arterial stenoses were found in six patients (7.4 %). In our study, MRA proved to be critical, especially for the detection of stenoses in the branches of the Circle of Willis. Conclusion Few case series have investigated the incidence of vascular complications of NF1, and most of them have used MRI. We suggest adding MRA to the brain imaging of all these patients, as stenoses of the branches of the Circle of Willis are often undetectable by MRI only.