title: Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.
abstract: Neurofibromatosis type I is a genetic condition with an autosomal dominant transmission characterized by neurocutaneous involvement and a predisposition to tumor development. Central nervous system manifestations include benign areas of dysmyelination and possibly hazardous glial tumors whose clinical management may result challenging. Here, we report on three patients diagnosed with Neurofibromatosis type I whose brain MRI follow-up showed the presence of gadolinium-enhancing lesions which spontaneously regressed. In none of the three cases, the lesions showed any clinical correlate and eventually presented a striking reduction in size while gadolinium enhancement disappeared despite no specific therapy administration during the follow-up. Although their nature remains undetermined, these lesions presented a benign evolution. However, they might be misdiagnosed as potentially life-threatening tumors. Hitherto, a similar behavior has been described only in scattered cases and we believe these findings may be of particular interest for the clinical management of patients affected by neurofibromatosis type I.
authors.affiliation: Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, via Giustiniani 5, 35128, Padua, Italy. lucchetta.marta@gmail.com.
authors.forename: Marta
authors.initials: M
authors.lastname: Lucchetta
authors.affiliation: Neuroradiology, University of Salerno, Salerno, Italy.|IRCCS S. Camillo, Venice, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Manara
authors.affiliation: Paediatric Residency Program, Department of Woman and Child Health, University of Padova, Padua, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Perilongo
authors.affiliation: Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, via Giustiniani 5, 35128, Padua, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
authors.affiliation: Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, via Giustiniani 5, 35128, Padua, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Trevisson
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology; D003287:Contrast Media; D005260:Female; D005682:Gadolinium; D005910:Glioma / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*; D012075:Remission, Spontaneous; D055815:Young Adult
chemical_list: D003287:Contrast Media; D005682:Gadolinium
keywords: Gadolinium; Gliomas; Lesions; Magnetic resonance imaging; Neurofibromatosis type 1