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Neurofibromatosis (NF) is an autosomal dominant disorder encompassing several distinct genetic defects with overlapping clinical features. This chapter focuses on the main genetic, clinical, pathological, and radiological features of neurofibromatosis type 1 (NF1). The cerebrovascular manifestations of NF1 include cerebral ischemia, intracranial hematoma, and subarachnoidal hemorrhage. Recurrent strokes can occur in the same or in different territories. Every large or medium-sized artery can be affected, and some patients have multiple stenoses of intracranial vessels combined with stenoses or occlusion of extracranial vessel. Hemispheric territorial infarction is a common stroke manifestation. Ocular involvement may present with retinal ischemia or global ocular ischemia. Angiography, time-of-flight magnetic resonance angiography (TOF-MRA) and Color duplex and spectral Doppler ultrasonography are useful diagnostic modalities for revealing the vascular complications of NF1. Neurosurgical revascularization in patients with moyamoya syndrome has been shown to reduce the risk of first-ever and recurrent stroke and transient ischemic attack (TIA).
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