Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1

Abstract

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.

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

“…In NF1, macrocephaly has been associated with a large brain volume due to the enlargement of white and grey matter [ 57 , 58 ]. A larger head circumference was already pointed as a clinical indicator for the presence of optic pathway gliomas in NF1 [ 54 ], however, this is still debated [ 59 ].…”

“…In NF1, macrocephaly has been associated with a large brain volume due to the enlargement of white and grey matter [57,58]. A larger head circumference was already pointed as a clinical indicator for the presence of optic pathway gliomas in NF1 [54], however, this is still debated [59]. A significantly higher frequency of short stature was observed in the NF1 group (34.5%) compared with the control group (4.8%) for both men and women.…”