Natural history of neurofibromatosis type 2 with onset before the age of 1 year (Articolo in rivista)

Type
Label
  • Natural history of neurofibromatosis type 2 with onset before the age of 1 year (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10048-013-0354-0 (literal)
Alternative label
  • Ruggieri, Martino; Gabriele, Anna Lia; Polizzi, Agata; Salpietro, Vincenzo; Nicita, Francesco; Pavone, Piero; Platania, Nunzio; Milone, Pietro; Distefano, Angela; Privitera, Giuseppe; Belfiore, Giuseppe; Granata, Francesca; Caltabiano, Rosario; Albanese, Vincenzo; Pavone, Lorenzo; Quattrone, Aldo (2013)
    Natural history of neurofibromatosis type 2 with onset before the age of 1 year
    in Neurogenetics (Oxf., Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Ruggieri, Martino; Gabriele, Anna Lia; Polizzi, Agata; Salpietro, Vincenzo; Nicita, Francesco; Pavone, Piero; Platania, Nunzio; Milone, Pietro; Distefano, Angela; Privitera, Giuseppe; Belfiore, Giuseppe; Granata, Francesca; Caltabiano, Rosario; Albanese, Vincenzo; Pavone, Lorenzo; Quattrone, Aldo (literal)
Pagina inizio
  • 89 (literal)
Pagina fine
  • 98 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 14 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 10 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • University of Catania; University of Catania; Natl Res Council CNR; Natl Res Council NRC; University of Messina; Sapienza University Rome; University of Catania; University of Catania; University of Catania; University of Catania; University of Messina; University of Catania; Magna Graecia University of Catanzaro (literal)
Titolo
  • Natural history of neurofibromatosis type 2 with onset before the age of 1 year (literal)
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. (literal)
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