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Child's Nervous System : ChNS :... Dec 2023Optic pathway gliomas (OPGs) are benign tumors that can stop growing or even shrink. In recent years, surgical resection has not been considered the first-line treatment... (Review)
Review
Optic pathway gliomas (OPGs) are benign tumors that can stop growing or even shrink. In recent years, surgical resection has not been considered the first-line treatment because of its high risk of complications. Chemotherapy is the mainstay of treatment for growing OPGs. Surgical treatment for OPGs with obstructive hydrocephalus is required. Ventriculoperitoneal shunting is effective for all types of hydrocephalus. However, long-term management is required, especially in pediatric cases, and there is a risk of shunt-related complications over a long lifespan. Debulking surgery for OPGs allows us to avoid shunt placement by creating a waterway and releasing the hydrocephalus. To reduce the surgical risk and invasiveness, we used an endoscopic canalization technique with a small-diameter cylinder. In this article, we present a case of endoscopic canalization of an obstructive hydrocephalus caused by OPGs in a 14-year-old female to illustrate our surgical technique.(Trial registration Registry name and number: Efficacy and safety of the neuro-endoscopic treatment for brain tumors (2019-0254)).
Topics: Adolescent; Female; Humans; Brain Neoplasms; Cytoreduction Surgical Procedures; Hydrocephalus; Optic Nerve Glioma; Retrospective Studies; Treatment Outcome; Ventriculoperitoneal Shunt
PubMed: 37365300
DOI: 10.1007/s00381-023-06053-5 -
Arquivos Brasileiros de Oftalmologia 2022This article reports the case of an 11-year-old male patient with a history of proptosis and low progressive visual acuity in the left eye. He presented with a best...
This article reports the case of an 11-year-old male patient with a history of proptosis and low progressive visual acuity in the left eye. He presented with a best corrected visual acuity of 20/25 in the right eye and light perception in the left eye. Exotropia and limitation in adduction were observed in the left eye. On automated perimetry, inferiortemporal quadrantopsia was observed in the right eye, while total scotoma was observed in the left eye. On magnetic resonance imaging, there was an expansive lesion in the left optic nerve, extending to the brainstem with chiasmatic involvement. This article aims to report a case of optic pathway glioma, as well as to discuss its clinical findings and their interconnection with the current literature.
Topics: Male; Humans; Child; Optic Nerve; Optic Nerve Glioma; Vision Disorders; Visual Field Tests; Eye; Magnetic Resonance Imaging
PubMed: 35857979
DOI: 10.5935/0004-2749.2021-0246 -
Experimental Neurology Jan 2018Fractional anisotropy (FA) of the optic radiations has been associated with vision deficit in multiple intrinsic brain pathologies including NF1 associated optic pathway... (Comparative Study)
Comparative Study Review
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 <1min of operator time for all participants. Cronbach's alpha was 0.83 between two independent raters for FA in hand-drawn tractography, but repeated automated tractography resulted in identical FA values (Cronbach's alpha=1). On univariate and multivariate analyses, FA was similarly associated with visual acuity loss using both methods. Receiver operator characteristic curves of both multivariate models demonstrated that both automated and hand-drawn tractography methods were equally able to distinguish normal from abnormal visual acuity.
CONCLUSION
Automated tractography of the optic radiations offers a fast, reliable and consistent method of tract identification that is not reliant on operator time or expertise. This method of tract identification may be useful as DTI is developed as a potential biomarker for visual acuity.
Topics: Adolescent; Anisotropy; Automation; Case-Control Studies; Child; Diffusion Tensor Imaging; Female; Geniculate Bodies; Humans; Image Processing, Computer-Assisted; Male; Medical Illustration; Neurofibromatosis 1; Occipital Lobe; Optic Nerve Glioma; Thalamus; Visual Acuity; Visual Cortex; Visual Pathways; White Matter
PubMed: 28587872
DOI: 10.1016/j.expneurol.2017.06.004 -
Neuro-oncology Oct 2021
Topics: Benzimidazoles; Humans; Optic Nerve Glioma
PubMed: 34251024
DOI: 10.1093/neuonc/noab164 -
Anticancer Research Aug 2016Optic pathway glioma (OPG) is a rare neoplasm and a defining feature of neurofibromatosis type 1 (NF1), a tumor suppressor genetic disorder. OPG predominantly arises... (Review)
Review
Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature.
UNLABELLED
Optic pathway glioma (OPG) is a rare neoplasm and a defining feature of neurofibromatosis type 1 (NF1), a tumor suppressor genetic disorder. OPG predominantly arises during childhood. In contrast to sporadic OPG, this neoplasm frequently appears to show a more favorable course. Outcome appears to depend on localization of tumor; however, the correlation of imaging findings and visual acuity is in general low. Treatment for symptomatic OPG is not well standardized. Furthermore, determination of visual acuity as the most important parameter of follow-up control is often difficult to determine, particularly in children. Focal abnormal signal intensity (FASI) is a characteristic finding on magnetic resonance imaging (MRI) of NF1 patients. The aim of this study was to evaluate clinical and imaging findings of NF1 patients affected with OPG.
PATIENTS AND METHODS
Data of 925 NF1 patients with appropriate MRI cranial sectional images (N=1,948) were evaluated. A further 50 patients with cranial computed tomograms were included in the study. We compared imaging and clinical findings with respect to localization of OPG. Furthermore, we compared follow-up in treated individuals to those who were only regularly re-examined. The presence of FASI on MRI was determined and correlated to the occurrence of OPG. Dodge classification was applied to categorize OPG location.
RESULTS
OPG was diagnosed in 134 patients. The mean age of patients with symptomatic OPG was 7.6 years (n=57, 42.5%) and 11.6 years (n=77, 57.5%) in asymptomatic patients. The female to male ratio was about 1.1:1. In 48 symptomatic patients, the findings of initial ophthalmological investigations were available. In symptomatic patients, reduced visual acuity was the predominant finding. Strabismus (25%), exophthalmos (22.9%) and amblyopia (20.8%) were most frequently noticed, followed by endrocrinological abnormalities (14.6%). However, these findings did not differ between patients who were treated or who were subjected to a 'wait-and-see' policy. We could not verify an effect of therapy on vision in patients treated for OPG compared to symptomatic patients without treatment. OPG affecting the total optic pathway was more frequently diagnosed in symptomatic patients. FASI did not correlate with functional OPG status.
CONCLUSION
OPG in NF1 is symptomatic in slightly less than 50% of affected individuals. This neurological finding may show a wide range of symptoms. At present, no established treatment protocol emerges from the history of the patients of this study and also from the literature. Although the onset of symptomatic OPG is strongly associated with early childhood, late onset of symptomatic OPG is a feature of adult NF1. Research for association of FASI to neurological findings in these patients should be based on other issues than association with OPG.
Topics: Adolescent; Adult; Age Distribution; Child; Clinical Decision-Making; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Neurofibromatosis 1; Optic Nerve Glioma; Retrospective Studies; Young Adult
PubMed: 27466519
DOI: No ID Found -
BMC Endocrine Disorders Dec 2015Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma... (Review)
Review
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 truncation of neurofibromin, with only ten reported cases in the literature so far.
CASE PRESENTATION
We describe a girl with NF1 associated with early central precocious puberty appearing at 2.5 years of age and optic glioma affecting the optic chiasm as seen on magnetic resonance imaging (MRI). Genetic analysis confirmed the presence of R681X. Therapy with a gonadotropin-releasing hormone agonist was instituted with good response to therapy. The lesions on MRI were stable and no significant vision impairment was present during the 6 years of follow-up.
CONCLUSION
Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty. Thus, to our knowledge, this is the first reported case of this mutation presenting with precocious puberty. We believe that this is a contribution to the few reports on the phenotype of this mutation and to the future elucidation of genotype-phenotype correlations of this disease.
Topics: Arginine; Child, Preschool; Female; Gonadotropin-Releasing Hormone; Humans; Magnetic Resonance Imaging; Mutation; Neurofibromatosis 1; Neurofibromin 1; Optic Nerve Glioma; Puberty, Precocious; Treatment Outcome; Triptorelin Pamoate
PubMed: 26666878
DOI: 10.1186/s12902-015-0076-4 -
Acta Neuropathologica Communications Feb 2024Tissue injury and tumorigenesis share many cellular and molecular features, including immune cell (T cells, monocytes) infiltration and inflammatory factor (cytokines,...
Tissue injury and tumorigenesis share many cellular and molecular features, including immune cell (T cells, monocytes) infiltration and inflammatory factor (cytokines, chemokines) elaboration. Their common pathobiology raises the intriguing possibility that brain injury could create a tissue microenvironment permissive for tumor formation. Leveraging several murine models of the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome and two experimental methods of brain injury, we demonstrate that both optic nerve crush and diffuse traumatic brain injury induce optic glioma (OPG) formation in mice harboring Nf1-deficient preneoplastic progenitors. We further elucidate the underlying molecular and cellular mechanisms, whereby glutamate released from damaged neurons stimulates IL-1β release by oligodendrocytes to induce microglia expression of Ccl5, a growth factor critical for Nf1-OPG formation. Interruption of this cellular circuit using glutamate receptor, IL-1β or Ccl5 inhibitors abrogates injury-induced glioma progression, thus establishing a causative relationship between injury and tumorigenesis.
Topics: Mice; Animals; Optic Nerve Glioma; Neurofibromatosis 1; Microglia; Brain Injuries; Neurons; Carcinogenesis; Tumor Microenvironment
PubMed: 38308315
DOI: 10.1186/s40478-024-01735-w -
Pediatric Research Jan 2023Optic pathway gliomas (OPGs) are classified by anatomic location and the association with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to...
BACKGROUND
Optic pathway gliomas (OPGs) are classified by anatomic location and the association with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities. We assessed the prevalence of endocrine dysfunction in children with OPGs and compared outcomes between those with and without NF1.
METHODS
We performed a retrospective medical record review of medical history, and clinical and laboratory data, of children diagnosed with OPGs (n = 59, 61% with NF1) during 1990-2020, followed at a tertiary endocrine clinic. Growth and puberty parameters and occurrence of endocrine dysfunction were evaluated.
RESULTS
Isolated optic nerve involvement was higher among patients with than without NF1. Patients without NF1 were younger at OPG diagnosis and more often treated with debulking surgery or chemotherapy. At the last endocrine evaluation, patients without NF1 had comparable height SDS, higher BMI SDS, and a higher rate of endocrine complications (78.3% vs. 41.7%, p = 0.006). Younger age at diagnosis, older age at last evaluation, and certain OPG locations were associated with increased endocrine disorder incidence.
CONCLUSIONS
Endocrine dysfunction was more common in patients without NF1; this may be related to younger age at presentation, tumor locations, a greater progressive rate, and more aggressive treatments.
IMPACT
The literature is sparse regarding sporadic OPGs, and the mean duration of follow-up is shorter than at our study. Our data show a higher rate of endocrine dysfunction in patients with OPGs than previously described. We also found a higher prevalence of endocrine dysfunctions among patients without compared to those with NF-1. A better understanding of the true prevalence of endocrine disabilities that may evolve along time can help in guiding physicians in the surveillance needed in patients with OPG.
Topics: Child; Humans; Neurofibromatosis 1; Retrospective Studies; Optic Nerve Glioma; Optic Nerve; Endocrine System Diseases
PubMed: 35538247
DOI: 10.1038/s41390-022-02098-5 -
Journal of Clinical Neuroscience :... Dec 2011Optic nerve gliomas are highly variable tumours with an unpredictable clinical course. Consequently, the diagnosis and management of these tumours remains complex and a... (Review)
Review
Optic nerve gliomas are highly variable tumours with an unpredictable clinical course. Consequently, the diagnosis and management of these tumours remains complex and a standardised management strategy does not exist. In this paper we describe a patient with optic nerve glioma treated at our institution and then review recent advances made in the diagnosis and treatment of these tumours over the past 10 years. Our aim is to clarify current best practice in the management of optic nerve gliomas.
Topics: Humans; Optic Nerve Glioma; Optic Nerve Neoplasms
PubMed: 22071462
DOI: 10.1016/j.jocn.2011.09.003 -
Graefe's Archive For Clinical and... Jul 2015Malignant optic glioma of adulthood is a rare, invasive neoplasm of the anterior visual pathway with 66 cases reported in the literature. It presents as anaplastic... (Review)
Review
PURPOSE
Malignant optic glioma of adulthood is a rare, invasive neoplasm of the anterior visual pathway with 66 cases reported in the literature. It presents as anaplastic astrocytoma (WHO grade III) or glioblastoma (WHO grade IV). The present case series covers the spectrum of disease manifestations, discusses neuroradiological findings, and reviews the current literature.
METHODS
Retrospective case series of five patients from three tertiary referral centers and literature review.
RESULTS
Visual loss with or without pain was the presenting symptom in all patients (two women, three men). Two patients were initially misdiagnosed as optic neuritis, and one patient as atypical non-arteritic anterior ischemic optic neuropathy (NAION). A neoplastic disease was suspected in the two remaining patients. MRI features were iso- to hypointensity on T1-weighted native images, contrast enhancement, and hyperintensity on T2-weighted images. Biopsy was generally diagnostic; however, one patient required two biopsies for diagnosis. The series includes an exceptional case of intraocular tumor extension and vitreous spread. The disease was lethal within one to two years in all patients.
CONCLUSIONS
Malignant optic glioma is a diagnostic challenge and remains a devastating and lethal disease. Advances in the understanding of tumor biology have yet failed to translate into effective treatment regimens.
Topics: Aged; Biopsy; Diagnosis, Differential; Electroretinography; Female; Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Optic Nerve Glioma; Optic Nerve Neoplasms; Optic Neuritis; Optic Neuropathy, Ischemic; Retrospective Studies; Temporal Arteries; Visual Pathways
PubMed: 26004076
DOI: 10.1007/s00417-015-3045-8