Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
- 18 June 2003
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 122A (2), 95-99
- https://doi.org/10.1002/ajmg.a.20211
Abstract
Children with neurofibromatosis type 1 (NF1) may present with optic pathway gliomas (OPG) that can progress to visual loss or other neurologic symptoms. These tumors may become evident either as a result of patient signs or symptoms or as an incidental finding on “baseline” neuroimaging studies. In an attempt to determine if there were differences between symptomatic and asymptomatic children with OPG, a retrospective cohort study of ninety children with NF1 and OPG was performed using data from two large NF1 referral centers. Age at diagnosis, presenting symptoms, tumor location, associated features, and clinical response were assessed for children who were initially symptomatic from their OPG (n = 51) and compared to similar data of asymptomatic children whose tumors were incidentally discovered by MRI (n = 39). There were no differences in age at presentation, tumor location, NF1-associated symptoms, or clinical response between the groups. Initially symptomatic children were much more likely to require treatment (OR: 14.8, 95% CI [1.9–116.7]) than those with incidentally discovered, asymptomatic OPG. Although 36% of OPG were diagnosed in children over the age of 6 years, none received prior neuroimaging and only two children had previously normal eye examinations, suggesting that the vast majority of OPG in this group were longstanding, undiagnosed tumors. Based on these findings, we do not advocate “baseline” MRI in children with NF1, but strongly recommend that all children of the age 10 years and younger with NF1 have complete annual ophthalmologic evaluations.Keywords
This publication has 15 references indexed in Scilit:
- Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: Relation to tumor location by magnetic resonance imagingAmerican Journal of Ophthalmology, 2001
- Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the nf1 optic pathway glioma task forceAnnals of Neurology, 1997
- Optic pathway tumors in children: The effect of neurofibromatosis type 1 on clinical manifestations and natural historyThe Journal of Pediatrics, 1995
- Precocious puberty in children with neurofibromatosis type 1The Journal of Pediatrics, 1995
- Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-upCancer, 1995
- Natural history of optic pathway tumors in children with neurofibromatosis type 1: A longitudinal studyThe Journal of Pediatrics, 1994
- Neurofibromatosis type 1 and childhood cancerCancer, 1993
- Spontaneous regression of optic glioma in a patient with neurofibromatosisNeurology, 1992
- Optic gliomas in children with neurofibromatosis type 1The Journal of Pediatrics, 1989
- von Recklinghausen NeurofibromatosisOphthalmology, 1984