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Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1

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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.

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Authors and Affiliations

  1. Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, via Giustiniani 5, 35128, Padua, Italy

    Marta Lucchetta, Maurizio Clementi & Eva Trevisson

  2. Neuroradiology, University of Salerno, Salerno, Italy

    Renzo Manara

  3. IRCCS S. Camillo, Venice, Italy

    Renzo Manara

  4. Paediatric Residency Program, Department of Woman and Child Health, University of Padova, Padua, Italy

    Giorgio Perilongo

Authors
  1. Marta Lucchetta
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  2. Renzo Manara
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  3. Giorgio Perilongo
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  4. Maurizio Clementi
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  5. Eva Trevisson
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Correspondence to Marta Lucchetta.

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None of the authors have conflict of interests to disclose.

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The manuscript does not contain clinical studies, no Ethics Committee approval was necessary.

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Lucchetta, M., Manara, R., Perilongo, G. et al. Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1. Radiol med 121, 214–217 (2016). https://doi.org/10.1007/s11547-015-0587-0

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  • DOI: https://doi.org/10.1007/s11547-015-0587-0

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