Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed as a prognostic factor for optic pathway glioma development. In the current study, the authors demonstrate that macrocephaly is not associated with the development of these brain tumors or the need to institute treatment for clinical progression. These findings suggest that macrocephaly is not a robust biomarker of optic pathway glioma formation or progression in children with neurofibromatosis type 1.

Original languageEnglish
Pages (from-to)1540-1545
Number of pages6
JournalJournal of Child Neurology
Issue number14
StatePublished - Dec 1 2016


  • brain tumor
  • head circumference
  • heterogeneity
  • neurofibromatosis type 1
  • occipital-frontal circumference


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