Quantitative MRI criteria for optic pathway enlargement in neurofibromatosis type 1.

Abstract

To determine quantitative size thresholds for enlargement of the optic nerve, chiasm, and tract in children with neurofibromatosis type 1 (NF1). Children 0.5-18.6 years of age who underwent high-resolution T1-weighted MRI were eligible for inclusion. This consisted of children with NF1 with or without optic pathway gliomas (OPGs) and a control group who did not have other acquired, systemic, or genetic conditions that could alter their anterior visual pathway (AVP). Maximum and average diameter and volume of AVP structures were calculated from reconstructed MRI images. Values above the 95th percentile from the controls were considered the threshold for defining an abnormally large AVP measure. A total of 186 children (controls = 82; NF1noOPG = 54; NF1+OPG = 50) met inclusion criteria. NF1noOPG and NF1+OPG participants demonstrated greater maximum optic nerve diameter and volume, optic chiasm volume, and total brain volume compared to controls (p < 0.05, all comparisons). Total brain volume, rather than age, predicted optic nerve and chiasm volume in controls (p < 0.05). Applying the 95th percentile threshold to all NF1 participants, the maximum optic nerve diameter (3.9 mm) and AVP volumes resulted in few false-positive errors (specificity >80%, all comparisons). Quantitative reference values for AVP enlargement will enhance the development of objective diagnostic criteria for OPGs secondary to NF1.