Proton MR Spectroscopic Imaging in NF-1
Annual rept. 1 Jul 2004-30 Jun 2005
JOHNS HOPKINS UNIV BALTIMORE MD
Pagination or Media Count:
Neurofibromatosis Type 1 NF-1 is the most common autosomal dominant genetic disorder, affecting the skin, central CNS and peripheral nervous systems. Children with NF-1 have an increased risk of developing significant learning disability LD, cognitive impairment, and optic or brain stem gliomas. Cerebral magnetic resonance imaging MRI in NF-1 reveals regions of high signal intensity often called unidentified bright objects, or UBOs. The pathophysiology of UBOs is poorly understood, and it is controversial to what extent they are involved in cognitive impairment. The aims of this proposal are to characterize the underlying metabolic abnormalities in NF-1 with proton MR spectroscopic imaging MRSI. We have developed a rapid, quantitative MR spectroscopic imaging MRSI protocol for the evaluation of cerebral metabolite levels in NF-1. Metabolite levels will be determined both in UBOs and other brain regions, both in order to improve understanding of the etiology of UBOs, and to understand the relationship between regional brain metabolism and LD. 60 subjects with NF1 and 60 control subjects will be evaluated with proton MRSI and detailed neuropsychological testing. Ultimately, proton MRSI may be a useful test for identifying children with NF-1 at risk of developing LD, and also help in distinguishing UBOs from other, malignant lesions which require therapeutic intervention.
- Medicine and Medical Research