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Natural history of neurofibromatosis type 2 with onset before the age of 1 year

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Abstract

Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997–2012) followed up three unrelated NF2 children, all harbouring NF2 gene mutations whose onset of disease was before age 1 year, and (b) systematically reviewed published reports on NF2 in the youngest age group (i.e. onset <1 year). The present three children had (1) small (<1 cm), bilateral vestibular schwannomas (VSs) detected (as an incidental finding) at magnetic resonance imaging (MRI) by the age of 4 to 5 months that were asymptomatic for 10 to 14 years, with sudden and rapid (<12 months) progression in two cases at the age of 11 and 15 years, respectively; (2) development of large numbers of skin NF2 plaques mainly in atypical locations (i.e. face, hands, legs and knees), which reverted to normal skin appearance at the time of VSs progression; (3) lens opacities (n = 1) and NF2 retinal changes (n = 2) detected as early as age of 3-4 months; (4) diffuse (asymptomatic) high signal lesions at brain MRI in the periventricular regions (alike cortical dysplasia); and (5) unaffected first-degree relatives who did not harbour NF2 gene abnormalities. This represents the youngest NF2 group with the longest prospective follow-up so far reported. NF2 may present as a congenital form with bilateral VSs presenting as early as the first months of life and with natural history different to that which occurs in classical NF2.

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Acknowledgments

The authors wish to thank Mr. Marco Di Mauro (University of Catania) and Mr. Francesco Marino (CNR, Catania) for their skilful technical assistance.

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Authors and Affiliations

  1. Department of Educational Sciences, University of Catania, Via Casa Nutrizione 1, 95124, Catania, Italy

    Martino Ruggieri

  2. Unit of Neurosurgery, Department of Neurosciences, University of Catania, Azienda Ospedaliera Universitaria “Policlinico-Vittorio Emanuele”, Via S. Sofia 78, 95123, Catania, Italy

    Martino Ruggieri, Nunzio Platania & Vincenzo Albanese

  3. Unit of Molecular Genetics, Institutes for Mediterranean Agriculture and Forest Systems (ISAFOM), National Research Council (CNR), Via Cavour 4/6, 87030, Rende, Cosenza, Italy

    Anna Lia Gabriele

  4. Institute of Neurological Sciences, National Research Council (NRC), Via Paolo Gaifami 18, 95126, Catania, Italy

    Agata Polizzi & Angela Distefano

  5. Unit of Genetics and Paediatric Immunology, Department of Paediatrics, University of Messina, Policlinico Universitario “Gaetano Martino”, Via Consolare Valeria 1, 98125, Messina, Italy

    Vincenzo Salpietro

  6. Child Neurology Section, Department of Pediatrics, University of Rome “La Sapienza”, Viale del Policlinico 155, 00161, Rome, Italy

    Francesco Nicita

  7. Unit of Paediatrics and Paediatric Emergency “Costanza Gravina”, Azienda Ospedaliero-Universitaria “Policlinico-Vittorio Emanuele” Section “Vittorio Emanuele”, Via Plebiscito 628, 95122, Catania, Italy

    Piero Pavone & Lorenzo Pavone

  8. Unit of Radiology, Institute of Radiology, University of Catania, Azienda Ospedaliera Universitaria “Policlinico-Vittorio Emanuele”, Via Santa Sofia 78, 95123, Catania, Italy

    Pietro Milone

  9. Unit of Radiotherapy, Institute of Radiology, University of Catania, Azienda Ospedaliera Universitaria “Policlinico-Vittorio Emanuele”, Via Santa Sofia 78, 95123, Catania, Italy

    Giuseppe Privitera

  10. Unit of Paediatric Radiology, Institute of Radiology, University of Catania, Azienda Ospedaliera Universitaria “Policlinico-Vittorio Emanuele”, Via Santa Sofia 78, 95123, Catania, Italy

    Giuseppe Belfiore

  11. Unit of Neuroradiology, Department of Radiology, University of Messina, Policlinico Universitario “Gaetano Martino”, Via Consolare Valeria 1, 98125, Messina, Italy

    Francesca Granata

  12. Institute of Anatomic Pathology “G. Ingrassia”, University of Catania, via Santa Sofia 87, 95123, Catania, Italy

    Rosario Caltabiano

  13. Department of Neurosciences, University “Magna Grecia”, Viale Europa, Località Germaneto, 88100, Catanzaro, Italy

    Aldo Quattrone

Authors
  1. Martino Ruggieri
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  2. Anna Lia Gabriele
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  3. Agata Polizzi
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  4. Vincenzo Salpietro
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  5. Francesco Nicita
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  6. Piero Pavone
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  7. Nunzio Platania
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  8. Pietro Milone
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  9. Angela Distefano
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  10. Giuseppe Privitera
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  11. Giuseppe Belfiore
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  12. Francesca Granata
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  13. Rosario Caltabiano
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  14. Vincenzo Albanese
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  15. Lorenzo Pavone
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  16. Aldo Quattrone
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Corresponding author

Correspondence to Martino Ruggieri.

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Ruggieri, M., Gabriele, A.L., Polizzi, A. et al. Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics 14, 89–98 (2013). https://doi.org/10.1007/s10048-013-0354-0

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  • DOI: https://doi.org/10.1007/s10048-013-0354-0

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