keyword
https://read.qxmd.com/read/38533410/epidemiology-and-outcomes-of-neurofibromatosis-type-1-nf-1-multicenter-tertiary-experience
#1
JOURNAL ARTICLE
Mohammed Almuqbil, Fatimah Yaseen Alshaikh, Waleed Altwaijri, Duaa Baarmah, Raid Harb Hommady, Maryam Yaseen Alshaikh, Fares Alammari, Meshal Alhussain, Reem Almotawa, Faris Alqarni, Amna Kashgari, Rayan Alkhodair, Jumanah N Alkhater, Lujeen Nasser Alkhater, Sawsan A Alharthi, Mada Abdulkarim Alsadi, Ahmed AlRumayyan
PURPOSE: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. PATIENTS AND METHODS: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia...
2024: Journal of Multidisciplinary Healthcare
https://read.qxmd.com/read/38504608/is-proton-beam-therapy-always-better-than-photon-irradiation-lessons-from-two-cases
#2
Michelle P Li, Adam Yeo, Roshini Gunewardena, Gabrielle Drum, Kirsty Wiltshire, Claire Phillips, Joseph Sia, Greg Wheeler, Lisa Hall
Proton beam therapy (PBT) is increasingly used to treat cancers, especially in the paediatric and adolescent and young adult (AYA) population. As PBT becomes more accessible, determining when PBT should be used instead of photon irradiation can be difficult. There is a need to balance patient, tumour and treatment factors when making this decision. Comparing the dosimetry between these two modalities plays an important role in this process. PBT can reduce low to intermediate doses to organs at risk (OAR), but photon irradiation has its dosimetric advantages...
March 20, 2024: Journal of Medical Radiation Sciences
https://read.qxmd.com/read/38468649/primary-anterior-visual-pathway-germinoma-in-a-13-year-old-boy-a-case-report
#3
Mosab Abbas, Mariam Zuhair Enani, Zehour Alsabban, Abdelrazak Meliti, Mohammed Homoud
BACKGROUND: Primary optic nerve and chiasmal germinomas are very rare. These lesions can commonly be mistaken for optic pathway gliomas based on imaging alone. It is radiosensitive and cured in most of the cases. CASE DESCRIPTION: We report a rare case of a 13-year-old boy with primary bilateral optic nerves and chiasmal germinoma who underwent partial surgical resection followed by radiotherapy. Follow-up brain imaging after two months post-radiotherapy showed interval regression of the tumor...
2024: Surgical Neurology International
https://read.qxmd.com/read/38465768/very-long-term-outcomes-of-pediatric-patients-treated-for-optic-pathway-gliomas-a-longitudinal-cohort-study
#4
JOURNAL ARTICLE
Alice Morin, Rodrigue Allodji, Dulanjalee Kariyawasam, Philippe Touraine, Stéphanie Puget, Kevin Beccaria, Emilie De Carli, Virginie Kieffer, Sophie Rivollet, Samuel Abbou, Chiraz Fayech, Vincent Souchard, Christelle Dufour, Florent De Vathaire, Stéphanie Bolle, Jacques Grill, Brice Fresneau
BACKGROUND: Optic pathway gliomas (OPG) represent 5% of childhood brain tumors. Successive relapses lead to multiple treatments exposing to late complications. METHODS: We included patients treated at Gustave Roussy (GR) between 01.1980 and 12.2015 for OPG, before 18 years-old and alive at 5 years from diagnosis. Mortality and physical health conditions data were extracted from medical data files and updated thanks to the GR long-term follow-up program and French national mortality registry for patients included in the French Childhood Cancer Survivor Study...
March 11, 2024: Neuro-oncology
https://read.qxmd.com/read/38414749/challenges-in-treating-children-with-optic-pathway-gliomas-an-18-year-experience-from-a-middle-income-country
#5
JOURNAL ARTICLE
Jorge Luis Ramírez-Melo, Daniel C Moreira, Ana Luisa Orozco-Alvarado, Fernando Sánchez-Zubieta, Regina M Navarro-Martín Del Campo
INTRODUCTION: Patients with optic pathway gliomas (OPG) have good survival rates although their long-term quality of life can be affected by the tumor or treatment-related morbidity. This retrospective study sought to describe the clinical presentation and outcomes of children with OPG at a tertiary center in Mexico. METHODS: Consecutive patients <18 years-of-age with newly diagnosed OPG between January 2002 and December 2020 at the Hospital Civil de Guadalajara Dr...
2024: Frontiers in Oncology
https://read.qxmd.com/read/38406862/the-management-of-neurofibromatosis-type-1-nf1-in-children-and-adolescents
#6
REVIEW
Nino Kerashvili, David H Gutmann
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor development. With revised NF1 clinical criteria and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner. AREAS COVERED: The authors review the spectrum of medical problems associated with NF1, focusing specifically on children and young adults...
February 27, 2024: Expert Review of Neurotherapeutics
https://read.qxmd.com/read/38386953/evaluation-of-pathway-to-diagnosis-of-pediatric-brain-tumors-in-tamil-nadu-india
#7
JOURNAL ARTICLE
Prerna Kartik, Jo-Fen Liu, Rishan Thimma Sudarsan, Aarthi Srinivasan, Dhaarani Jayaraman, Ponni Sivaprakasam, Rikki John, Ramya Uppuluri, Julius Xavier Scott, Rakesh Jalali, Madhumita Dandapani
PURPOSE: Delayed diagnosis and poor awareness are significant barriers to the early intervention of pediatric brain tumors. This multicenter observational study aimed to evaluate the baseline routes and time to diagnosis for pediatric brain tumors in Tamil Nadu (TN), with the goal of promoting early diagnosis and timely referrals in the future. METHODS: A standard proforma was used to retrospectively collect information on demographics, diagnosis, referral pathways, and symptoms of incident pediatric brain tumor cases between January 2018 and October 2020 across eight tertiary hospitals in TN...
February 2024: JCO global oncology
https://read.qxmd.com/read/38380221/the-endonasal-endoscopic-transsphenoidal-approach-to-paediatric-optic-chiasma-glioma-a-case-report-and-literature-review
#8
Norah S Al Shareef, Ali Almomen, Retaj Alawadhi, Abdulrhman Alkhatib, Sultan Alsaiari
Optic pathway gliomas (OPGs) are rare pediatric tumors that pose significant challenges in management due to their location and clinical manifestations. Traditional transcranial approaches have been the mainstay for surgical intervention, but recent advancements in endoscopic endonasal transsphenoidal surgery offer a less invasive alternative. Here, we present a case of a 10-year-old female child with neurofibromatosis type-1 and an aggressive OPG who underwent endoscopic endonasal transsphenoidal debulking surgery...
January 2024: Curēus
https://read.qxmd.com/read/38360350/acquired-myelinated-retinal-nerve-fiber-layer-in-a-child-with-neurofibromatosis-1-related-optic-pathway-glioma
#9
Kevin K Min, Agnes M F Wong, Michael J Wan
Myelinated retinal nerve fiber layer (RNFL) is a rare structural anomaly that occurs from abnormal myelination extending anterior to the lamina cribrosa. Clinically, myelinated RNFL is characterized as a gray-white lesion with feathered, well-demarcated borders obscuring the retinal vasculature. Myelinated RNFL is typically congenital, benign, and asymptomatic. It is most commonly noted as an incidental finding on ophthalmic examination. However, cases of acquired myelinated RNFL have been reported. We report the case of a patient with neurofibromatosis type 1 and optic pathway glioma with unilateral acquired myelinated RNFL...
February 13, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/38357619/ophthalmologic-findings-in-children-with-neurofibromatosis-type-1
#10
JOURNAL ARTICLE
Caroline Maria Zimmermann, Shonar Singh, Nur Cardakli, Courtney Lynn Kraus
The purpose of this study was to evaluate the ophthalmologic findings in children with neurofibromatosis type 1 (NF1) and compare these findings in eyes with and without optic pathway gliomas (OPGs). We carried out a retrospective chart review of children with NF1. We recorded demographic characteristics, clinical manifestations of disease, and ophthalmologic findings including visual acuity, intraocular pressure, cup-to-disc ratio, visual field testing, and optical coherence tomography findings. Ophthalmologic findings were examined for the cohort for initial and final appointments...
2024: Neuro-ophthalmology
https://read.qxmd.com/read/38252486/the-relationship-between-choroidal-abnormalities-and-visual-outcomes-in-pediatric-patients-with-nf1-associated-optic-pathway-gliomas
#11
JOURNAL ARTICLE
Tais Estrela, Saprina Truong, Arielle Garcia, Jocelyn He, Gui-Shuang Ying, Keshini Devakandan, Y Arun Reginald, Michael J Fisher, Grant T Liu, Nicole J Ullrich, Robert A Avery, Gena Heidary
BACKGROUND: Choroidal abnormalities (CAs) visualized on near-infrared reflectance (NIR) imaging are a new diagnostic criterion for neurofibromatosis type 1 (NF1), but the association between the presence of CAs and visual function remains unknown. This study evaluated the relationship between visual acuity (VA) with the presence, number, or total area of CAs visualized by NIR in children with NF1-associated optic pathway gliomas (NF1-OPGs). METHODS: Patients (<18 years) enrolled in a prospective longitudinal study of children with NF1-associated OPGs from 3 institutions were eligible if they had optical coherence tomography (OCT) of the macula (Heidelberg Spectralis) with ≥1 year of follow-up...
March 1, 2024: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://read.qxmd.com/read/38229454/estrogen-induced-glial-il-1%C3%AE-mediates-extrinsic-retinal-ganglion-cell-vulnerability-in-murine-nf1-optic-glioma
#12
JOURNAL ARTICLE
Yunshuo Tang, Jit Chatterjee, Ngan Wagoner, Stephanie Bozeman, David H Gutmann
Optic pathway gliomas (OPGs) arising in children with neurofibromatosis type 1 (NF1) can cause retinal ganglion cell (RGC) dysfunction and vision loss, which occurs more frequently in girls. While our previous studies demonstrated that estrogen was partly responsible for this sexually dimorphic visual impairment, herein we elucidate the underlying mechanism. In contrast to their male counterparts, female Nf1OPG mice have increased expression of glial interleukin-1β (IL-1β), which is neurotoxic to RGCs in vitro...
January 16, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38224589/a-sellar-suprasellar-malignant-optic-pathway-glioblastoma-in-the-absence-of-prior-radiation-therapy-illustrative-case
#13
JOURNAL ARTICLE
Mestet Yibeltal Shiferaw, Tsegazeab Laeke Teklemariam, Abenezer Tirsit Aklilu, Dejen Teke Gebrewahd, Bereket Hailu Mekuria, Ermias Fikru Yesuf, Taye Jemberu Robele
BACKGROUND: To date, only a few cases of sellar and suprasellar glioblastomas have been reported even though high-grade glioma constitutes the most common adult brain tumor, commonly arising in the cerebral hemispheres. It arises de novo from astrocytes within the optic nerve, optic chiasm, or optic tracts and is quite challenging to diagnose and treat. To the authors' knowledge, there are 72 cases (including this one) of optic glioma malignancies in the medical literature, 30 corresponding to glioblastomas...
January 15, 2024: J Neurosurg Case Lessons
https://read.qxmd.com/read/38199773/-bilateral-visual-pathway-invasion-of-occipital-astrocytoma-a-case-report
#14
JOURNAL ARTICLE
J X Li, J Zhu, H Chen, H J Guan, M Ji
A 33-year-old female presented to the ophthalmology clinic with right periorbital redness and pain for 12 hours. CT revealed right optic nerve thickening and enlargement. Cranial MRI demonstrated abnormalities in the corpus callosum, bilateral hippocampi, thalamus, basal ganglia, temporal-parietal lobes, and the left frontal lobe. Ocular B-scan ultrasound showed elevated optic disc and high echogenic signals in the right vitreous cavity. The patient had a history of surgical resection, radiation therapy, and chemotherapy for a left occipital glioma two years prior, with pathology indicating astrocytoma (World Health Organization Grade Ⅱ)...
January 11, 2024: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://read.qxmd.com/read/38150061/treatment-evaluation-by-volumetric-segmentation-in-pediatric-optic-pathway-glioma-evaluation-of-the-effect-of-bevacizumab-on-intra-tumor-components
#15
JOURNAL ARTICLE
Carlien A Bennebroek, Christiaan R Schouten, Maartje C Montauban-van Swijndregt, Peerooz Saeed, Giorgio L Porro, Jan W R Pott, Anne T M Dittrich, Rianne Oostenbrink, Antoinette Y Schouten-van Meeteren, Marcus C de Jong, Pim de Graaf
PURPOSE: Progressive pediatric optic pathway gliomas (OPGs) are treated by diverse systemic antitumor modalities. Refined insights on the course of intra-tumoral components are limited. METHODS: We performed an exploratory study on the longitudinal volumetric course of different (intra-)tumor components by manual segmentation of MRI at the start and after 3, 6 and 12 months of bevacizumab (BVZ) treatment. RESULTS: Thirty-one patients were treated with BVZ (median 12 months, range: 2-39 months)...
December 27, 2023: Journal of Neuro-oncology
https://read.qxmd.com/read/38145120/laser-interstitial-thermal-therapy-is-effective-and-safe-for-the-treatment-of-brain-tumors-in-nf1-patients-after-cerebral-revascularization-for-moyamoya-angiopathy-a-report-on-two-cases
#16
Lelio Guida, Kevin Beccaria, Sandro Benichi, Manoelle Kossorotof, Olivier Naggara, Marie Bourgeois, Franck Bourdeaut, Samuel Abbou, Volodia Dangouloff-Ros, Nathalie Boddaert, Thomas Blauwblomme
BACKGROUND: The co-occurrence of moyamoya vasculopathy and extra-optic pathway tumors is rare in neurofibromatosis type 1 (NF1), with only four cases described in the literature. Brain surgery in these patients may be challenging because of the risk of brain infarction after skin and dural incision. Given its percutaneous and minimally invasive nature, laser interstitial thermal therapy (LITT) is an ideal option for the treatment of brain tumors in these patients. Here, we report on two patients with NF1 and moyamoya syndrome (MMS) treated for a brain glioma with LITT, after cerebral revascularization...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38083430/automatic-visual-acuity-loss-prediction-in-children-with-optic-pathway-gliomas-using-magnetic-resonance-imaging
#17
JOURNAL ARTICLE
Zhifan Jiang, Abhijeet Parida, Syed Muhammad Anwar, Yucheng Tang, Holger R Roth, Michael J Fisher, Roger J Packer, Robert A Avery, Marius George Linguraru
Children with optic pathway gliomas (OPGs), a low-grade brain tumor associated with neurofibromatosis type 1 (NF1-OPG), are at risk for permanent vision loss. While OPG size has been associated with vision loss, it is unclear how changes in size, shape, and imaging features of OPGs are associated with the likelihood of vision loss. This paper presents a fully automatic framework for accurate prediction of visual acuity loss using multi-sequence magnetic resonance images (MRIs). Our proposed framework includes a transformer-based segmentation network using transfer learning, statistical analysis of radiomic features, and a machine learning method for predicting vision loss...
July 2023: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://read.qxmd.com/read/38065774/arterial-spin-labelling-predictive-role-in-surgical-bleeding-of-paediatric-optic-pathway-gliomas
#18
JOURNAL ARTICLE
D Ramond, S Puget, P Varlet, E Vergnaud, J Montmayeur, Y Purcell, K Beccaria, T Blauwblomme, N Boddaert, V Dangouloff-Ros
AIM: To analyse the performance of arterial spin labelling (ASL) in predicting surgical bleeding in a paediatric cohort of optic pathway glioma (OPG). MATERIALS AND METHODS: Preoperative ASL data were obtained for 51 OPG in 40 patients, aged from 9 months to 16 years. The relative cerebral blood flow (rCBF) in the tumour areas with the highest CBF (maximum rCBF) was measured and then correlated with qualitative local bleeding (graded no, moderate, and major by the neurosurgeon) and quantitative global surgical bleeding (assessed in millilitres using haematocrit data)...
November 28, 2023: Clinical Radiology
https://read.qxmd.com/read/38028314/the-rare-case-of-optic-nerve-cavernoma-a-case-report-depicting-the-diagnostic-challenge
#19
Rushil Sharma
The manuscript describes a case of Cavernous Malformation in the optic pathway which is extremely rare, accounting for less than 1% of central nervous system cavernomas. This case report highlights a patient initially diagnosed with a glioma, but subsequent MRI changes and extensive analysis ruled in favor of a hemorrhagic optic neuropathy caused by an optic nerve cavernoma. The patient experienced temporary vision loss but fully regained her vision within a week. Based on clinical, biochemical, and radiological findings, it was confirmed as a rare case of optic nerve cavernoma, and the patient was managed expectantly due to her complete recovery of vision...
January 2024: Radiology Case Reports
https://read.qxmd.com/read/38027504/unraveling-the-blue-shift-in-porphyrin-fluorescence-in-glioma-the-620%C3%A2-nm-peak-and-its-potential-significance-in-tumor-biology
#20
JOURNAL ARTICLE
Eric Suero Molina, David Black, Anna Walke, Ghasem Azemi, Fabio D'Alessandro, Simone König, Walter Stummer
In glioma surgery, the low-density infiltration zone of tumors is difficult to detect by any means. While, for instance, 5-aminolevulinic acid (5-ALA)-induced fluorescence is a well-established surgical procedure for maximizing resection of malignant gliomas, a cell density in tumor tissue of 20-30% is needed to observe visual fluorescence. Hyperspectral imaging is a powerful technique for the optical characterization of brain tissue, which accommodates the complex spectral properties of gliomas. Thereby, knowledge about the signal source is essential to generate specific separation (unmixing) procedures for the different spectral characteristics of analytes and estimate compound abundances...
2023: Frontiers in Neuroscience
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