ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2011
Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas?
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 25 citations in OpenAlex.
- Visual Deficits and Diagnostic and Therapeutic Strategies for Neurofibromatosis Type 1: Bridging Science and Patient-Centered Care.Vision (Basel, Switzerland) · 2024Review
- Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.Frontiers in genetics · 2024Article
- Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study.Orphanet journal of rare diseases · 2022Article
- Neurofibromatosis: New Clinical Challenges in the Era of COVID-19.Biomedicines · 2022Review
- Neurofibromatosis 1-associated optic pathway gliomas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Optic pathway glioma volume predicts retinal axon degeneration in neurofibromatosis type 1.Neurology · 2016Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
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Abstract
purposeOptic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder. The detection of optic pathway gliomas is essential for further management but is often delayed in infancy due to oligosymptomatic progression and difficulties in clinical detection. Therefore, the aim of our study was to find a clinical indicator for the presence of optic pathway gliomas in children with neurofibromatosis type 1 in order to facilitate early diagnosis and initiate further ophthalmological and neuroimaging investigations.
methodsWe retrospectively evaluated 70 patients (mean age of 10.5 years; SD of 4.3 years; range of 0.5-19.6 years; 35 females) with neurofibromatosis type 1 seen at the University Children's Hospital of Bern, Switzerland, between January 1998 and December 2008 regarding clinical features of neurofibromatosis type 1 in relation to the presence of optic pathway gliomas.
resultsFifty-seven of the 70 patients (81.4%) had no clinical or radiological signs of optic pathway gliomas [magnetic resonance imaging (MRI) of the brain in 26/57], whereas 13/70 patients (18.6%) were diagnosed with optic pathway gliomas by MRI. Patients with optic pathway gliomas showed macrocephaly significantly more often compared to patients without optic pathway gliomas (8/13 vs. 9/57, respectively; p = 0.004).
conclusionMacrocephaly significantly correlates with the incidence of optic pathway gliomas in children with neurofibromatosis type 1. We therefore hypothesise that in otherwise asymptomatic patients, macrocephaly is an additional indicator for performing MRI to detect optic pathway gliomas.
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