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La radiologia medica

, Volume 121, Issue 3, pp 214–217 | Cite as

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

  • Marta Lucchetta
  • Renzo Manara
  • Giorgio Perilongo
  • Maurizio Clementi
  • Eva Trevisson
ONCOLOGY IMAGING
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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.

Keywords

Neurofibromatosis type 1 Gliomas Gadolinium Lesions Magnetic resonance imaging 

Notes

Compliance with ethical standards

Conflict of interest

None of the authors have conflict of interests to disclose.

Ethical standards

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

References

  1. 1.
    Clementi M, Barbujani G, Turolla L, Tenconi R (1990) Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet 84:116–118CrossRefPubMedGoogle Scholar
  2. 2.
    Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:181–186CrossRefPubMedGoogle Scholar
  3. 3.
    Listernick R, Louis DN, Packer RJ, Gutmann DH (1997) Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 optic pathway glioma task force. Ann Neurol 41:143–149CrossRefPubMedGoogle Scholar
  4. 4.
    Bilaniuk LT, Molloy PT, Zimmerman RA, Phillips PC, Vaughan SN, Liu GT, Sutton LN, Needle M (1997) Neurofibromatosis type 1: brain stem tumours. Neuroradiology 39:642–653CrossRefPubMedGoogle Scholar
  5. 5.
    Guillamo JS, Créange A, Kalifa C, Grill J, Rodriguez D, Doz F, Barbarot S, Zerah M, Sanson M, Bastuji-Garin S, Wolkenstein P, France Réseau NF (2003) Prognostic factors of CNS tumours in neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain 126:152–160CrossRefPubMedGoogle Scholar
  6. 6.
    Pollack IF, Shultz B, Mulvihill JJ (1996) The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology 46:1652–1660CrossRefPubMedGoogle Scholar
  7. 7.
    Cakirer S, Karaarslan E (2004) Spontaneous involution of a non-optic astrocytoma in neurofibromatosis type I: serial magnetic resonance imaging evaluation. Acta Radiol 45:669–673CrossRefPubMedGoogle Scholar
  8. 8.
    Leisti EL, Pyhtinen J, Poyhonen M (1996) Spontaneous decrease of a pilocytic astrocytoma in neurofibromatosis type 1. Am J Neuroradiol 17:1691–1694PubMedGoogle Scholar
  9. 9.
    Kraut MA, Gerring JP, Cooper KL, Thompson RE, Denckla MB, Kaufmann WE (2004) Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1. Am J Med Gen A 129:113–119CrossRefGoogle Scholar
  10. 10.
    Morris PW, Glasier CM, Smirniotopoulos JG, Allison JW (1997) Disappearing enhancing brain lesion in a child with neurofibromatosis type I. Pediatr Radiol 27:260–261CrossRefPubMedGoogle Scholar
  11. 11.
    Ullrich NJ, Raja AI, Irons MB, Kieran MW, Goumnerova L (2007) Brainstem lesions in neurofibromatosis type 1. Neurosurgery 61:762–766CrossRefPubMedGoogle Scholar
  12. 12.
    Margari L, Presicci A, Ventura P, Maria Bacca S, Iliceto G, Medicamento N, Buttiglione M, Perniola T (2006) Clinical and instrumental (magnetic resonance imaging [MRI] and multimodal evoked potentials) follow-up of brain lesions in three young patients with neurofibromatosis 1. J Child Neurol 21:1085–1090CrossRefPubMedGoogle Scholar
  13. 13.
    Raininko R, Thelin L, Eeg-Olofsson O (2001) Non-neoplastic brain abnormalities on MRI in children and adolescents with neurofibromatosis type 1. Neuropediatrics 32:225–230CrossRefPubMedGoogle Scholar
  14. 14.
    NIH-consensus-statement. Neurofibromatosis. Conference statement (1988). National Institutes of Health Consensus Development Conference. Arch Neurol 45:575–578Google Scholar
  15. 15.
    Scott JN, Brasher PM, Sevick RJ, Rewcastle NB, Forsyth PA (2002) How often are non enhancing supratentorial gliomas malignant? A population study. Neurology 59:947–949CrossRefPubMedGoogle Scholar

Copyright information

© Italian Society of Medical Radiology 2015

Authors and Affiliations

  • Marta Lucchetta
    • 1
  • Renzo Manara
    • 2
    • 3
  • Giorgio Perilongo
    • 4
  • Maurizio Clementi
    • 1
  • Eva Trevisson
    • 1
  1. 1.Clinical Genetics Unit, Department of Woman and Child HealthUniversity of PadovaPaduaItaly
  2. 2.NeuroradiologyUniversity of SalernoSalernoItaly
  3. 3.IRCCS S. CamilloVeniceItaly
  4. 4.Paediatric Residency Program, Department of Woman and Child HealthUniversity of PadovaPaduaItaly

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