A case of neurofibromatosis and multiple sclerosis.
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.
Spinicci
Gabriella
G
Dipartimento di Scienze Cardiovascolari e Neurologiche, Centro Sclerosi Multipla, University of Cagliari, Cagliari, Italy. gspinicci@tiscali.it
Cherchi
Maria Valeria
MV
Murru
Raffaele
R
Conti
Maria
M
Marrosu
Maria Giovanna
MG
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