BACKGROUND Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma and central precocious puberty; the latter is more common when the optic chiasm is affected. The mutational spectrum of the NF1 gene is wide and complex; R681X is a rare severe mutation of the NF1 gene known to cause...

Objective A 10 year old presented with painless loss of vision as the first manifestation of neurofibromatosis 1 (NF1). Clinical assessment detected diagnostic features of NF1 and Magnetic Resonance Imaging (MRI) scan confirmed presence of plexiform neurofibroma and bilateral optic pathway glioma (OPG). The child was managed with chemotherapy which helped in improvement of vision. Review of cur...

Twenty-one patients with documented neurofibromatosis had MR examinations to evaluate possible intracranial disease. In five cases the indication was a known or suspected optic glioma. Two patients were examined because of a history of seizures; the rest were examined as part of a baseline evaluation. Eighteen patients showed evidence of signal hyperintensity on T2-weighted images. Lesions invo...

The sensitivity and specificity of microRNAs (miRNAs) for diagnosing glioma are controversial. We therefore performed a meta-analysis to systematically identify glioma-associated miRNAs. We initially screened five miRNA microarray datasets to evaluate the differential expression of miRNAs between glioma and normal tissues. We next compared the expression of the miRNAs in different organs and ti...