title: Natural history of neurofibromatosis type 2 with onset before the age of 1 year.
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.
authors: Department of Educational Sciences, University of Catania, Italy. m.ruggieri@unict.it
authors: Martino
authors: M
authors: Ruggieri
authors: Anna Lia
authors: AL
authors: Gabriele
authors: Agata
authors: A
authors: Polizzi
authors: Vincenzo
authors: V
authors: Salpietro
authors: Francesco
authors: F
authors: Nicita
authors: Piero
authors: P
authors: Pavone
authors: Nunzio
authors: N
authors: Platania
authors: Pietro
authors: P
authors: Milone
authors: Angela
authors: A
authors: Distefano
authors: Giuseppe
authors: G
authors: Privitera
authors: Giuseppe
authors: G
authors: Belfiore
authors: Francesca
authors: F
authors: Granata
authors: Rosario
authors: R
authors: Caltabiano
authors: Vincenzo
authors: V
authors: Albanese
authors: Lorenzo
authors: L
authors: Pavone
authors: Aldo
authors: A
authors: Quattrone
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002648:Child; D018450:Disease Progression; D005260:Female; D016515:Genes, Neurofibromatosis 2 / Q000502:physiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D011446:Prospective Studies
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