Annals of neurology
-
Annals of neurology · Apr 2000
Thalamic involvement in neurofibromatosis type 1: evaluation with proton magnetic resonance spectroscopic imaging.
Neurofibromatosis type 1 is a common autosomal dominant disorder associated with learning disabilities. In addition to gliomas and other tumors, T2 hyperintense lesions (unidentified bright objects or UBOs) are frequently found in the globus pallidus, cerebellum, and white matter regions. To better characterize supratentorial UBO functional significance, we studied by quantitative magnetic resonance spectroscopic imaging (MRSI) 9 male subjects with neurofibromatosis type 1 (age, 6-19 years) and 9 age-matched and sex-matched controls. ⋯ We speculate that the MRSI metabolic abnormality may represent a more generalized phenomenon, without a T2 signal counterpart in the affected brain regions. Based on the neuropathological study by DiPaolo and colleagues (1995), we postulate that Cho elevations reflect increased myelin turnover in areas of intramyelinic edema, which is followed by neuropil injury (reduced NAA). Temporal progression and behavioral correlates of these MRSI changes deserve further exploration.