Atti Congressuali


		Summary

		Proceedings SNO

		Introduction: NeuroFibromatosis type 1 (NF-1) is an autosomal dominant multisystem progressive genetic phakomatose (1/3.500), associated with recognized vasculopathy, including cerebrovascular manifestations.The purpose of this case report is to highlight the importance of investigating cerebrovascular disease in NF-1 affected patients and to prove the possible correlation between brain Magnetic Resonance Imaging (MRI) alterations and vascular manifestations. Materials and Methods: We report the case of a 35 years old NF1 affected patient presenting at Emergency Hospital Service, with subacute dysarthria and walking disorder. The patient underwent 64 slices CT execution at our Neuroradiology Service, showing an extended bulbar-pontine hypodensity, without significant mass effect, and tumefactive right optic nerve, thus suspected for gliomas. No acute-subacute alterations were detectable. The patient, admitted to the Neurology Unit, underwent brain MRI, performed with a morphological imaging protocol: Diffusion Weighted Imaging, Fast Spin Echo T2, Fluid Attenuated Inversion Recovery, Gradient-echo, Spin Echo T1 weighted and T1-3D sequences, before and after contrast injection. Results: MRI confirmed bulbar-pontine low grade glioma, right optic pathway glioma and some focal alterations, in particular, in left mesial temporal lobe and in periventricular white matter, first suspected for neurofibromatosis bright objects. Thus, focal neurological deficit dysarthria represented the manifestation of the identified expansive brainstem lesion (17% in NF-1). Conclusions: We confirm the importance of investigating focal neurological deficits in NF-1 patients, above-all in acute presentation, to exclude possible related cerebral vasculopathy, since their implications in clinical management, prognosis and follow-up. References: 1. Ferner R.E., Huson S.M., Thomas N., Moss C., Willshaw H., Evans D.G., Upadhyaya M., Towers R. et al.: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44 (2): 81-88. 2. Oderich G.S., Sullivan T.M., Bower T.C., Gloviczki P., Miller D.V., Babovic-Vuksanovic D., Macedo T.A., Stanson A.: Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007; 46 (3): 475-484. 3. White M.L., Hadley W.L., Zhang Y., Dogar M.A.: Analysis of central nervous system vasculitis with diffusion-weighted imaging and apparent diffusion coefficient mapping of the normal-appearing brain. AJNR Am J Neuroradiol 2007; 28 (5): 933-937.


Atti Congressuali	Saluto Presidente Massimo de Bellis	Presentazione	Organizzazione

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Proceedings SNO - ISBN 978-88-8041 - Copyright © 2017 SNO & new MAGAZINE s.r.l. - Italy