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Child's Nervous System : ChNS :... Feb 2012
Review
Topics: Cerebral Hemorrhage; Female; Humans; Optic Chiasm; Optic Nerve Glioma; Optic Nerve Neoplasms; Third Ventricle; Young Adult
PubMed: 22134417
DOI: 10.1007/s00381-011-1643-2 -
Journal of Neurosurgery. Pediatrics Dec 2017OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in...
OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in differentiating IONGs from other types of OPGs in most clinical series, little is known about these tumors. Currently, due to lack of evidence, they are managed the same as any other OPG. METHODS The authors conducted a multicenter retrospective cohort study aimed at determining the natural history of IONGs. Included were patients with clear-cut glioma of the optic nerve without posterior (chiasmatic/hypothalamic) involvement. At least 1 year of follow-up, 2 MRI studies, and 2 neuro-ophthalmological examinations were required for inclusion. RESULTS Thirty-six patients with 39 tumors were included in this study. Age at diagnosis ranged between 6 months and 16 years (average 6 years). The mean follow-up time was 5.6 years. Twenty-five patients had neurofibromatosis Type 1. During the follow-up period, 59% of the tumors progressed, 23% remained stable, and 18% (all with neurofibromatosis Type 1) displayed some degree of spontaneous regression. Fifty-one percent of the patients presented with visual decline, of whom 90% experienced further deterioration. Nine patients were treated with chemotherapy, 5 of whom improved visually. Ten patients underwent operation, and no local or distal recurrence was noted. CONCLUSIONS Isolated optic nerve gliomas are highly dynamic tumors. Radiological progression and visual deterioration occur in greater percentages than in the general population of patients with OPGs. Response to chemotherapy may be better in this group, and its use should be considered early in the course of the disease.
Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Female; Follow-Up Studies; Humans; Infant; Male; Optic Nerve Glioma; Retrospective Studies
PubMed: 28984541
DOI: 10.3171/2017.6.PEDS17107 -
Ophthalmology Mar 2021
Topics: Blood Flow Velocity; Child; Humans; Magnetic Resonance Imaging; Optic Nerve; Optic Nerve Glioma; Optic Nerve Neoplasms; Regional Blood Flow; Ultrasonography, Doppler, Color
PubMed: 33612164
DOI: 10.1016/j.ophtha.2020.10.004 -
Journal of Clinical Neuroscience :... Jul 2011We report a 63-year-old, previously healthy female patient with glioblastoma multiforme of the optic nerve and chiasm presenting as acute anterior optic neuropathy. She...
We report a 63-year-old, previously healthy female patient with glioblastoma multiforme of the optic nerve and chiasm presenting as acute anterior optic neuropathy. She presented with a 3-week history of progressively increasing headaches, retrobulbar pain, rapidly progressive visual loss in the right eye and blurred vision in the left eye. Early clinical examination revealed right optic disc swelling and she was initially diagnosed with demyelinating optic neuritis. Her clinical course deteriorated with total visual loss in the right eye and progressive visual loss in the left eye despite treatment with intravenous (IV) methylprednisone and IV immunoglobulins. MRI revealed enhancement of the right optic nerve and optic chiasm, with multiple periventricular hyperintense foci. Six weeks later, the patient presented with left facial palsy and left hemiparesis. Follow-up MRI showed multiple enhancing lesions in addition to the previous lesions involving right lentiform and right thalamic nucleus, right cerebral peduncle, right temporal and parietal lobes. Although the optic nerve biopsy was inconclusive, the brain biopsy revealed glioblastoma multiforme. This report demonstrated that malignant glioma of adulthood may be multicentric and may mimic optic neuritis clinically, which might help explain the difficulties in diagnosis.
Topics: Diagnostic Errors; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Ophthalmoscopy; Optic Nerve Diseases; Optic Nerve Glioma; Optic Neuritis
PubMed: 21550255
DOI: 10.1016/j.jocn.2010.12.010 -
American Journal of Ophthalmology Jan 2021This study reports on neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) and a follow-up period of at least 10 years in a cohort of children. OPGs...
PURPOSE
This study reports on neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) and a follow-up period of at least 10 years in a cohort of children. OPGs are a common manifestation of NF1 and can cause significant visual morbidity. Long-term follow-up in children with NF1-associated OPGs has not been reported previously.
DESIGN
Retrospective observational case series.
METHODS
This study included children with a documented follow-up of at least 10 years. Three final outcomes were evaluated: visual acuity (VA) per eye (i.e., in the more severely affected eye), VA per patient (i.e., VA when both eyes were open), and the presence of optic nerve head pallor.
RESULTS
A total of 45 children were included, followed for a mean of 14 years (range, 10-21 years). At the end of follow-up, abnormal VA (considered moderate to severe impairment) in the more severely affected eye was present in 36% of the patients and in both eyes in 11%. Optic nerve head pallor of 1 or both nerves was present in 62%. In multivariate analysis, only initial VA and optic nerve head appearance at presentation were found to predict the final outcomes. All patients, except for 1, were asymptomatic at presentation and had normal VA and nerves that appeared normal, preserved their good vision in both eyes. Only 1 patient, who had normal VA and normal appearing nerves at presentation, had moderate to severe VA loss at long term follow-up.
CONCLUSIONS
In this study, children with NF1-associated OPG whose examination signs and symptoms were normal had a normal initial examination and excellent long-term visual and anatomical outcomes. VA and the appearance of the optic nerve head at presentation predict long-term outcome.
Topics: Adolescent; Antineoplastic Agents; Child; Combined Modality Therapy; Female; Follow-Up Studies; Humans; Male; Neurofibromatosis 1; Ophthalmologic Surgical Procedures; Optic Chiasm; Optic Disk; Optic Nerve Glioma; Optic Nerve Neoplasms; Retrospective Studies; Vision Disorders; Visual Acuity; Young Adult
PubMed: 32283094
DOI: 10.1016/j.ajo.2020.03.053 -
Human Molecular Genetics May 2016Neurofibromatosis type 1 (NF1) is a common neurogenetic condition characterized by significant clinical heterogeneity. A major barrier to developing precision medicine...
Neurofibromatosis type 1 (NF1) is a common neurogenetic condition characterized by significant clinical heterogeneity. A major barrier to developing precision medicine approaches for NF1 is an incomplete understanding of the factors that underlie its inherent variability. To determine the impact of the germline NF1 gene mutation on the optic gliomas frequently encountered in children with NF1, we developed genetically engineered mice harboring two representative NF1-patient-derived Nf1 gene mutations (c.2542G>C;p.G848R and c.2041C>T;p.R681X). We found that each germline Nf1 gene mutation resulted in different levels of neurofibromin expression. Importantly, only R681X(CKO) but not G848R(CKO), mice develop optic gliomas with increased optic nerve volumes, glial fibrillary acid protein immunoreactivity, proliferation and retinal ganglion cell death, similar to Nf1 conditional knockout mice harboring a neomycin insertion (neo) as the germline Nf1 gene mutation. These differences in optic glioma phenotypes reflect both cell-autonomous and stromal effects of the germline Nf1 gene mutation. In this regard, primary astrocytes harboring the R681X germline Nf1 gene mutation exhibit increased basal astrocyte proliferation (BrdU incorporation) indistinguishable from neo(CKO) astrocytes, whereas astrocytes with the G848R mutation have lower levels of proliferation. Evidence for paracrine effects from the tumor microenvironment were revealed when R681X(CKO) mice were compared with conventional neo(CKO) mice. Relative to neo(CKO) mice, the optic gliomas from R681X(CKO) mice had more microglia infiltration and JNK(Thr183/Tyr185) activation, microglia-produced Ccl5, and glial AKT(Thr308) activation. Collectively, these studies establish that the germline Nf1 gene mutation is a major determinant of optic glioma development and growth through by both tumor cell-intrinsic and stromal effects.
Topics: Animals; Astrocytes; Cells, Cultured; Disease Models, Animal; Female; Germ-Line Mutation; Glial Fibrillary Acidic Protein; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Microglia; Neurofibromatosis 1; Neurofibromin 1; Optic Nerve; Optic Nerve Glioma
PubMed: 26908603
DOI: 10.1093/hmg/ddw039 -
Journal of Child Neurology May 2018Isolated optic nerve glioma is a rare tumor with no consensus for the best therapeutic approach. Therefore, tumor control and preservation of visual function remain a...
Isolated optic nerve glioma is a rare tumor with no consensus for the best therapeutic approach. Therefore, tumor control and preservation of visual function remain a challenge. In this retrospective study, we describe our experience over 30 years in a single-institutional cohort of children with isolated optic nerve glioma, focusing on treatments and visual outcomes. Seventeen children were followed for a median period of 8 years (range, 2-22 years). Diagnosis was based on typical neuroradiologic findings, and 3 patients had histologic confirmation of their tumors. In our study, conservative management preserved the vision of most patients with neurofibromatosis type 1 (NF1). NF1-related optic nerve gliomas were less often treated but were associated with a lower probability of progression and with occasional spontaneous regression. Sporadic tumors more frequently exhibited aggressive clinical behavior with a higher propensity for posterior extension, often requiring surgical intervention.
Topics: Adolescent; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Male; Neurofibromatoses; Optic Nerve Glioma; Retrospective Studies; Treatment Outcome; Vision Disorders; Young Adult
PubMed: 29502465
DOI: 10.1177/0883073818758737 -
Ophthalmic Plastic and Reconstructive... 2017Two children without neurofibromatosis type 1 presented with unilateral decreased vision and MRI revealing optic nerve tumors. In the first case, chemotherapy was...
Two children without neurofibromatosis type 1 presented with unilateral decreased vision and MRI revealing optic nerve tumors. In the first case, chemotherapy was initiated empirically for presumed optic pathway glioma, but the lesion increased in size with associated clinical worsening, raising concern for a possible alternate diagnosis. Biopsy of the involved optic nerve resulted in worsening of vision due to a branch retinal artery occlusion and showed a grade I pilocytic astrocytoma. In the second case, sudden symptom onset and rapid tumor growth prompted an optic nerve biopsy, resulting in vision loss due to a central retinal artery occlusion and revealing grade I pilocytic astrocytoma. In both cases, tissue diagnosis did not alter the course of management. Instead, biopsy was associated with additional vision loss, highlighting the risk of biopsy in children with isolated optic nerve tumors and imaging that is most consistent with an optic pathway glioma.
Topics: Adolescent; Biopsy; Blindness; Child; Female; Humans; Magnetic Resonance Imaging; Male; Optic Nerve; Optic Nerve Glioma
PubMed: 27046034
DOI: 10.1097/IOP.0000000000000687 -
The Canadian Veterinary Journal = La... Aug 2023A 4-year-old mixed-breed dog was presented for hyphema and glaucoma of the right eye. Enucleation of the right globe was carried out, and histopathology examination...
A 4-year-old mixed-breed dog was presented for hyphema and glaucoma of the right eye. Enucleation of the right globe was carried out, and histopathology examination revealed an optic nerve glioma with incomplete surgical margins. At 8 wk after surgery, the dog had depressed mentation and a diminished pupillary light reflex of the left eye. Magnetic resonance imaging revealed an irregular, heterogeneously T2 hyperintense/T1 isointense mass in the region of the optic chiasm. Compression of the rostral thalamus was present, with effacement of the pituitary gland and involvement of the right orbit. The dog was euthanized 4.5 mo after initial presentation. An undefined glioma of the right optic nerve with extension to the diencephalon was diagnosed on necropsy. Key clinical message: Although rare, intraocular glioma is a differential diagnosis for hyphema, glaucoma, and retinal detachment. Magnetic resonance imaging should be considered in cases of intraocular neoplasia, notably in those with incomplete surgical margins of the optic nerve.
Topics: Animals; Dogs; Optic Nerve Glioma; Hyphema; Margins of Excision; Optic Nerve; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Glaucoma; Dog Diseases
PubMed: 37529389
DOI: No ID Found -
Clinical Imaging May 2022Our study aimed to report the normative values for optic nerve diameter in different age groups in MR imaging (MRI) in the pediatric population and to find a cut-off...
AIM
Our study aimed to report the normative values for optic nerve diameter in different age groups in MR imaging (MRI) in the pediatric population and to find a cut-off value for diagnosis in different age groups to be used for the diagnosis of optic glioma in patients with Neurofibromatosis 1(NF1).
MATERIALS-METHODS
Orbital MRI obtained from 2011 to 2021 for children with and without NF1 were reviewed. Patients were divided into three groups: NF1 with glioma (group 1, n = 38), NF1 without glioma (group 2, n = 57), and healthy controls (group 3, n = 295). Two radiologists assessed diameter and tortuosity using validated criteria. The optic nerve measurements were obtained by two radiologists in two plans (axial and coronal sections) at five locations; retroocular, midsegment, and prechiasmatic segment on axial plane and retroocular segment and chiasmatic on coronal plane.
RESULTS
Optic nerves were divided into 4 age groups: 0-2 years, 2-6 years, 6-12 years, and 12-18 years. It was observed that optic nerve diameters increased with age in healthy individuals. In subjects in groups 1 and 2, the mean diameter of the optic nerve was significantly greater at all locations compared with control individuals. Tortuosity scores were significantly associated in NF1 subjects with optic glioma than in NF1 subjects without optic glioma.
CONCLUSION
We present the normative values obtained by measuring optic nerve diameters in pediatric populations (0-18 years) on MRI of our center. A rapid increase in optic nerve diameter was observed in the first 6 years of life, followed by a slower increase. Quantitative reference values for optic nerve diameter will benefit the development of objective diagnostic criteria for optic nerve gliomas (ONGs) secondary to NF1.
Topics: Child; Child, Preschool; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Neurofibromatosis 1; Optic Nerve; Optic Nerve Glioma; Reference Values
PubMed: 35259715
DOI: 10.1016/j.clinimag.2022.02.021