ArticleArchives of disease in childhood1999
Paediatric presentation of type 2 neurofibromatosis.
Article in Archives of disease in childhood, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 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
48 citing papers in PubMed, 190 citations in OpenAlex.
- Clinical and Imaging Phenotype of Schwannomatosis in Children, Adolescents and Young Adults.Cancers · 2026Article
- The clinical spectrum of paediatric NF2- related schwannomatosis.Familial cancer · 2025Review
- History and clinical epidemiology of NF2-related schwannomatosis.Familial cancer · 2025Review
- Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).Journal of Korean Neurosurgical Society · 2025Article
- The development of an artificial intelligence auto-segmentation tool for 3D volumetric analysis of vestibular schwannomas.Scientific reports · 2025Article
- Neurofibromatosis type 2 misdiagnosed as amblyopia-a case report and literature review.Frontiers in medicine · 2025Article
- Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis.Neurologia medico-chirurgica · 2024Article
- Bilateral vestibular schwannoma with a cooccurring meningioma in a child: a case report and review of literature.Annals of medicine and surgery (2012) · 2024Article
- Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions.Oncology and therapy · 2024Review
- Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review.Case reports in pediatrics · 2024Article
- The genetic landscape and possible therapeutics of neurofibromatosis type 2.Cancer cell international · 2023Review
- Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.International journal of molecular sciences · 2022Article
- Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.Neuro-oncology · 2021Article
- Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.Frontiers in genetics · 2021Article
- 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
- The Neurofibromatoses.Deutsches Arzteblatt international · 2020Review
- An update on the CNS manifestations of neurofibromatosis type 2.Acta neuropathologica · 2020Review
- Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.JAMA neurology · 2017Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis type 2 (NF2) is a highly penetrant autosomal dominant condition predisposing affected individuals to schwannomas and meningiomas. The proportion of children presenting with meningioma or schwannoma who have NF2 is not well described, and neither is the mode of presentation in most children with the inherited disease.
aimsTo determine the frequency of childhood meningioma and schwannoma cases caused by NF2 and the mode of presentation.
methodsThe records of the Manchester Children's Tumour Registry from 1954 were searched for cases of meningioma and schwannoma. Paediatric presentation in a large UK series of NF2 was also studied.
results18% (61/334) of patients with NF2 on the UK database presented in the paediatric age group (0-15 years), frequently with the symptoms of an isolated tumour. More than half had no family history to alert the clinician to their susceptibility. Three of 22 children presenting with a meningioma on the Manchester Children's Tumour Registry have gone on to develop classic features of NF2.
conclusionsClinicians should suspect NF2 in children presenting with meningioma, schwannoma, and skin features, such as neurofibromas/schwannomas, but fewer than 6 café au lait patches, who thus fall short of a diagnosis of neurofibromatosis type 1.
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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.