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Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain
D P DiPaolo1, R A Zimmerman, L B Rorke
1Department of Radiology, Children's Hospital of Philadelphia, PA 19104, USA.
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.