Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which predisposes patients to develop benign and malignant neoplasms, mostly due to a loss of function mutation in the neurofibromatosis type 1 (NF1) gene. NF1's protein product, neurofibromin, controls Ras pathway inactivation and so functions as a tumor suppressor. A decrease in neurofibromin, which is found in neurons, Schwann cells, and melanocytes, predisposes patients with NF1 to tumors in both the central and peripheral nervous systems. The most common focal brain lesions found in NF1 patients are hamartomas (FASI) and gliomas. Proton Magnetic resonance spectroscopy is one such technique which provides a noninvasive method for characterizing the cellular biochemistry which underlies brain pathologies, helping in differentiating between hamartomas (FASI) and gliomas in our study based on the spectroscopic analysis of different metabolites
AIM OF THE WORK:
This study aimed to assess the role of MR spectroscopy in differentiating between hamartomas (FASI) & gliomas in NF1 patients. And assessing the metabolite differences in the normal appearing brain of NF1 patients and normal healthy volunteers.