ReviewNeurogenetics2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 year.
Review in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 59 citations in OpenAlex.
- The clinical spectrum of paediatric NF2- related schwannomatosis.Familial cancer · 2025Review
- Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).Journal of Korean Neurosurgical Society · 2025Article
- Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.Orphanet journal of rare diseases · 2022Observational
- Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.Neuro-oncology · 2021Article
- Options and strategies for hearing restoration in pediatric neurofibromatosis type 2.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Neurocutaneous melanocytosis (melanosis).Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Introduction to phacomatoses (neurocutaneous disorders) in childhood.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Article
- Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2020Review
- [Primary meningioma of the optical nerve sheet in infancy as initial presentation of neurofibromatosis type 2].Der Pathologe · 2019Article
- A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Article
- A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Journal of genetic counseling · 2017Review
- Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Article
- Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
- Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
- Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2016Review
- Incidental parenchymal magnetic resonance imaging findings in the brains of patients with neurofibromatosis type 2.NeuroImage. Clinical · 2014Article
- Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications.International journal of endocrinology · 2014Review
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.