M Etemadifar1, F Fatehi, M A Sahraian, A Borhanihaghighi, P M Ardestani, M Kaji-Esfahani, A H Maghzi. 1. Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran; Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Isfahan Research Committee of Multiple Sclerosis (IRCOMS), Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Abstract
INTRODUCTION: Co-occurrence of multiple sclerosis (MS) and neurofibromatosis type 1 (NF1) is rare. CASE REPORTS: In this study, we describe the clinical and neuroimaging features of seven patients with NF1 and MS. In our patients, six patients with MS were women, in all of them history of NF1 existed. Three of our patients had primary progressive, one had secondary progressive MS, and three relapsing-remitting MS. Optic neuritis as presenting symptoms was seen in three patients, and motor manifestation as presenting symptom was observed in three patients. The risk of having both NF1 and MS seemed to be higher than would be expected based on the prevalence rates of the two diseases in the general population. CONCLUSION: The findings of this study suggest a possible casual relationship between MS and NF1, indicating higher risk of MS among patients with NF1.
INTRODUCTION: Co-occurrence of multiple sclerosis (MS) and neurofibromatosis type 1 (NF1) is rare. CASE REPORTS: In this study, we describe the clinical and neuroimaging features of seven patients with NF1 and MS. In our patients, six patients with MS were women, in all of them history of NF1 existed. Three of our patients had primary progressive, one had secondary progressive MS, and three relapsing-remitting MS. Optic neuritis as presenting symptoms was seen in three patients, and motor manifestation as presenting symptom was observed in three patients. The risk of having both NF1 and MS seemed to be higher than would be expected based on the prevalence rates of the two diseases in the general population. CONCLUSION: The findings of this study suggest a possible casual relationship between MS and NF1, indicating higher risk of MS among patients with NF1.
Authors: Silvia Ciotti; Antonella Cometa; Claudia De Carlo; Giancarlo Martini; Andrea Marona; Laura Filippetti; Diego Carducci; Silvano Baratta; Mauro Zampolini; Francesco Corea Journal: Eur J Case Rep Intern Med Date: 2021-02-03
Authors: Chinwe C Madubata; Margaret A Olsen; Dustin L Stwalley; David H Gutmann; Kimberly J Johnson Journal: Genet Med Date: 2014-06-05 Impact factor: 8.822