A Spectrum of Neurofibromatosis Type 1: A Case Series of 6 Patients with Diverse Radiological Manifestations

Abstract

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant neurocutaneous disorder with a wide spectrum of clinical and radiological manifestations. This case series presents the clinical and magnetic resonance imaging (MRI) findings of six patients with varying presentations of NF1. Spectrum of MRI imaging findings include optic nerve glioma, focal areas of signal intensity (FASI), large lumbar neurofibroma, preseptal neurofibroma, extensive plexiform neurofibromas and intramedullary spinal cord signal changes, multiple neurofibromas and optic nerve involvement, intradural extramedullary neurofibroma at D12 vertebral level. This series illustrates the importance of MRI in diagnosing, characterizing, and monitoring the myriad of central and peripheral nervous system manifestations associated with NF1, ranging from benign FASI to potentially neoplastic lesions like optic gliomas and plexiform neurofibromas.