title: A case of neurofibromatosis and multiple sclerosis.
abstract: Neurofibromatosis 1 (NF1), also called von Recklinghausen disease or peripheral NF, is a common autosomal-dominant neurocutaneous disorder associated with mutations of the NF 1 gene. The pathogenesis is poorly understood and the disease is characterized by cafè-au-lait spots, neurofibromatous tumors of the skin, Lisch nodules of the iris and many pleiotropic manifestations. The gene responsible for the disorder has been isolated on chromosome 17q11.2. The association of multiple sclerosis with NF is rarely reported in literature. We describe a patient with NF1, who subsequently developed relapsing-remitting multiple sclerosis.
authors.affiliation: Dipartimento di Scienze Cardiovascolari e Neurologiche, Centro Sclerosi Multipla, University of Cagliari, Cagliari, Italy. gspinicci@tiscali.it
authors.forename: Gabriella
authors.initials: G
authors.lastname: Spinicci
authors.forename: Maria Valeria
authors.initials: MV
authors.lastname: Cherchi
authors.forename: Raffaele
authors.initials: R
authors.lastname: Murru
authors.forename: Maria
authors.initials: M
authors.lastname: Conti
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000328:Adult; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009103:Multiple Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013116:Spinal Cord / Q000473:pathology