how to cite this article: paul sp, ahmed s, painless loss of vision as the first presentation of undiagnosed neurofibromatosis 1 in a child. iran j child neurol. autumn 2015;9(4):58-60. abstract 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 ima...

The role of radiotherapy in the management of patients with optic pathway glioma is controversial. In a series of patients with optic pathway glioma treated at The Hospital for Sick Children in Toronto, five children were encountered who developed moyamoya phenomenon after radiotherapy. A retrospective review of the medical records was undertaken in order to assess the relationship between opti...

BACKGROUND Children with neurofibromatosis type 1 (NF1) develop optic pathway gliomas, which result from impaired NF1 protein regulation of Ras activity. One obstacle to the implementation of biologically targeted therapies is an incomplete understanding of the individual contributions of the downstream Ras effectors (mitogen-activated protein kinase kinase [MEK], Akt) to optic glioma maintenan...

OBJECTIVE To report a unique case of haemorrhagic presentation of a chiasmal and optic tract glioma (OPG) appearing as an extra-axial lesion on MRI scans. CASE REPORT A 30-year-old female with a preoperative radiological diagnosis of dermoid cyst was operated. No lesion was found in the chiasmal or carotid cisterns within the operative field. The right posterolateral corner of the chiasma and...

Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed ...

OBJECTIVE Children with neurofibromatosis-1 (NF1) are at risk for developing numerous nervous system abnormalities, including cognitive problems and brain tumors (optic pathway glioma). Currently, there are few prognostic factors that predict clinical manifestations or outcomes in patients, even in families with an identical NF1 gene mutation. In this study, we leveraged Nf1 genetically enginee...

Individuals with neurofibromatosis type 1 (NF1) are prone to develop optic pathway gliomas that can result in significant visual impairment. To explore the cellular basis for the reduced visual function resulting from optic glioma formation, we used a genetically engineered mouse model of Nf1 optic glioma (Nf1+/-(GFAP)CKO mice). We performed multimodal functional and structural analyses both be...