Validation of an automated tractography method for the optic radiations as a biomarker of visual acuity in neurofibromatosis-associated optic pathway glioma.

Validation of an automated tractography method for the optic radiations as a biomarker of visual acuity in neurofibromatosis-associated optic pathway glioma. Exp Neurol. 2017 Jun 03;: Authors: de Blank P, Fisher MJ, Gittleman H, Barnholtz-Sloan JS, Badve C, Berman JI Abstract INTRODUCTION: Fractional anisotropy (FA) of the optic radiations has been associated with vision deficit in multiple intrinsic brain pathologies including NF1 associated optic pathway glioma, but hand-drawn regions of interest used in previous tractography methods limit consistency of this potential biomarker. We created an automated method to identify white matter tracts in the optic radiations and compared this method to previously reported hand-drawn tractography. METHOD: Automated tractography of the optic radiation using probabilistic streamline fiber tracking between the lateral geniculate nucleus of the thalamus and the occipital cortex was compared to the hand-drawn method between regions of interest posterior to Meyer's loop and anterior to tract branching near the calcarine cortex. Reliability was assessed by two independent raters in a sample of 20 healthy child controls. Among 50 children with NF1-associated optic pathway glioma, the association of FA and visual acuity deficit was compared for both tractography methods. RESULTS: Hand-drawn tractography methods required 2.6±0.9min/participant; automated methods were performed in
Source: Experimental Neurology - Category: Neurology Authors: Tags: Exp Neurol Source Type: research

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Purpose of review The current review summarizes recent advances on three important issues in neurofibromatosis type 1 (NF1) management: the identification of specific NF1 gene mutations predicting the risk for developing neurological malignancies; the molecular features of NF1-associated tumors and their differences from sporadic neoplasms; genetic, epigenetic, or microenviromental factors leading benign tumors to a malignant transformation in NF1. Recent findings The association between the risk of developing optic pathway glioma and specific germiline NF1 mutations is still debated and further studies are needed wit...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: BRAIN AND NERVOUS SYSTEM: Edited by Marc Sanson Source Type: research
present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Caf é-au-lait macules, intertriginous freckling, Lisch nodules, and tumors including neurofibromas, malignant peripheral nerve sheath tumors, and gliomas. Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti le sions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidney, lung, and he...
Source: Dermatologic Clinics - Category: Dermatology Authors: Source Type: research
Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data. PMID: 31443616 [PubMed - as supplied by publisher]
Source: Postgraduate Medicine - Category: Internal Medicine Tags: Postgrad Med Source Type: research
Purpose of review Optic pathway gliomas are low-grade neoplasms that affect the precortical visual pathway of children and adolescents. They can affect the optic nerve, optic chiasm, optic tracts and radiations and can either be sporadic or associated with neurofibromatosis type one. Gliomas isolated to the optic nerve (ONG) represent a subgroup of optic pathway gliomas, and their treatment remains controversial. New developments in ONG treatment have emerged in recent years, and it is necessary for clinicians to have a current understanding of available therapies. Recent findings The current review of the literature ...
Source: Current Opinion in Ophthalmology - Category: Opthalmology Tags: OCULOPLASTIC AND ORBITAL SURGERY: Edited by Richard C. Allen Source Type: research
We report a rare case of neurofibroma in the form of tarsal conjunctival thickening of the eyelid in patients with neurofibromatosis type 1 (NF1), common ocular complications of which are Lisch nodules, choroidal nodules, and optic nerve glioma. Patient concerns: A 46-year-old female patient was diagnosed with neurofibroma after biopsy and removal of 2 lumbar level intradural masses 15 years ago. She was being monitored without recurrence. When the patient visited our hospital, multiple iris Lisch nodules were found in both her eyes with ill-defined, diffuse thickening in the upper eyelid tarsal conjunctiva of the right...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Neurofibromatosis type 1 (NF-1) associated optic pathway gliomas (OPGs) may cause profound loss of vision and visual field (VF). Many children undergo formal VF testing to monitor for signs of tumor progression. The purpose of this study is to determine the test –retest reliability and variability of testing using Goldmann perimetry in children with NF-1-associated OPGs in an effort to provide evidence-based guidelines for tumor progression.
Source: Journal of AAPOS - Category: Opthalmology Authors: Source Type: research
In this study we describe a very long follow-up on children with NF1-associated OPGs.
Source: Journal of AAPOS - Category: Opthalmology Authors: Source Type: research
We present three cases of NF1 patients referred for 18F-fluorocholine PET/CT because of suspected glioma in the setting of ongoing FUMEGA (Functional and Metabolic Glioma Analysis) trial. One case turned out to be a WHO grade I ganglioglioma; the second was a high grade glioma; and the last one (negative in PET) a probable low-grade glioma.
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
l C Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by cafe-au-lait macules, benign neurofibromas as well as malignant peripheral nerve sheath tumours, freckling in the axillary or inguinal regions, optic glioma and Lisch nodules (iris hamartomas) and further manifestations like bone deformities etc. Additionally, NF1 patients are at increased risk of early-onset cerebrovascular diseases, the pathogenesis of which has not been clarified yet. Here we report the first case of two siblings with NF1 who suffered an acute ischemic stroke. Professionals treating NF...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Authors: Hozumi K, Fukuoka H, Odake Y, Takeuchi T, Uehara T, Sato T, Inoshita N, Yoshida K, Matsumoto R, Bando H, Hirota Y, Iguchi G, Taniguchi M, Otsuki N, Nishigori C, Kosaki K, Hasegawa T, Ogawa W, Takahashi Y Abstract Although acromegaly has been reported in patients with Neurofibromatosis type 1 (NF1), these cases have not been associated with growth hormone (GH)-producing somatotroph adenoma, but with optic pathway glioma. A 68 year-old Japanese woman, who had been clinically diagnosed with NF1, was referred to our hospital due to a thyroid tumor and hypercalcemia. Acromegaly was suspected due to her facial f...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
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