Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain

Abstract

Purpose: To investigate a correlation between pathologic and radiologic findings with regard to the characteristic high-signal-intensity foci seen on long repetition time (TR) magnetic resonance (MR) images of the brain in patients with neurofibromatosis type 1 (NF-1).

Materials and methods: Three girls with NF-1 and abnormal hyperintensities on long TR images of the brain underwent pathologic examination at autopsy.

Results: Two 10-year-old girls had classic, focal hyperintensities in the internal capsules and globus pallidus regions, which have been associated with NF-1. The third patient, a neonate, had diffuse hyperintensity of the supratentorial and infratentorial white matter on T2-weighted MR images. Findings at histopathologic examination revealed spongiotic change in the tissue sections that correspond to the high-signal-intensity foci demonstrated on T2-weighted images.

Conclusion: Hyperintense foci seen on T2-weighted MR images appear to correspond to pathologic findings of areas of vacuolar or spongiotic change. The resultant fluid-filled vacuoles explain the occurrence of high signal intensity demonstrated on T2-weighted images.