scholarly journals Isolated optic nerve gliomas: a multicenter historical cohort study

2017 ◽  
Vol 20 (6) ◽  
pp. 549-555 ◽  
Author(s):  
Ben Shofty ◽  
Liat Ben-Sira ◽  
Anat Kesler ◽  
George Jallo ◽  
Mari L. Groves ◽  
...  
Keyword(s):  
Cohort Study ◽  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Historical Cohort ◽  
Clear Cut ◽  
Response To Chemotherapy ◽  
Clinical Series

OBJECTIVEIsolated 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.METHODSThe 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.RESULTSThirty-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.CONCLUSIONSIsolated 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.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

Follow-Up of Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

1994 ◽  
Vol 25 (06) ◽  
pp. 295-300 ◽  
Author(s):  
Ch. Kuenzle ◽  
M. Weissert ◽  
E. Roulet ◽  
H. Bode ◽  
S. Schefer ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway ◽  
Optic Pathway Gliomas

scholarly journals Characteristics, Treatment Patterns, Healthcare Resource Use, and Costs among Pediatric Patients Diagnosed with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Retrospective Database Analysis of a Medicaid Population

2020 ◽  
Author(s):  
Xiaoqin Yang ◽  
Kaushal Desai ◽  
Neha Agrawal ◽  
Kirti Mirchandani ◽  
Sagnik Chatterjee ◽  
...  
Keyword(s):  
Resource Use ◽  
Neurofibromatosis Type 1 ◽  
Pediatric Patients ◽  
Healthcare Resource ◽  
Neurofibromatosis Type ◽  
Treatment Patterns ◽  
Healthcare Resource Use ◽  
The Mean

Abstract Background: Neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN) can cause substantial morbidity by disfigurement and compression of vital structures. Real-world data on the burden and cost of disease among pediatric patients with NF1 and PN is limited. The objectives of this study were to describe the characteristics, treatment patterns, healthcare resource use (HCRU), and costs of these patients.Results: A total of 383 patients were included in the retrospective analysis of patients aged ≤18 with at least 1 ICD-10-CM diagnosis code for both NF1 and PN enrolled in the MarketScan® Multistate Medicaid database from October 1, 2014 to December 31, 2017. The mean follow-up was 448 days. The mean age was 11.4 years and 52.0% of patients were male. Most patients were diagnosed by a specialist (63.5%). During the follow-up period, pain medications were used by 58.5% of patients, 25.1% were treated with chemotherapy, 7.1% received surgery for PN, 1.6% received MEK inhibitors, and 0.8% received radiation. Mean per patient per year inpatient, outpatient, emergency room, pharmacy, and other visits were 1.4, 17.3, 1.6, 13.6, and 25.8, respectively. Mean ±SD (median) total per patient per year healthcare costs (2018 USD) were $17,275 ±$61,903 ($2,889), with total medical costs of $14,628 ±$56,203 ($2,334) and pharmacy costs of $2,646 ±$13,303 ($26). Inpatient costs were the largest drivers of medical cost, with a mean per patient per year cost of $6,739.Conclusions: This study showed that many pediatric patients diagnosed with NF1 and PN were treated with supportive care only, highlighting a substantial unmet medical need. This study also highlights the considerable economic burden among patients with NF1 and PN.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Author(s):  
Cecilie Ejerskov ◽  
Maj Raundahl ◽  
Pernille Axel Gregersen ◽  
Mette Møller Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract BackgroundThe mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications.MethodA systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed.ResultsWe identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. ConclusionPatients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

scholarly journals Optic nerve tortuosity in children with neurofibromatosis type 1

2013 ◽  
Vol 43 (10) ◽  
pp. 1336-1343 ◽  
Author(s):  
Joyce Ji ◽  
Joshua Shimony ◽  
Feng Gao ◽  
Robert C. McKinstry ◽  
David H. Gutmann
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals NIMG-66. LONG-TERM FOLLOW-UP OF NEUROFIBROMATOSIS TYPE 1 PATIENTS USING WHOLE-BODY MRI DEMONSTRATES DYNAMIC CHANGES IN INTERNAL NEUROFIBROMA SIZE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi176-vi176
Author(s):  
Ina Ly ◽  
Raquel Thalheimer ◽  
Wenli Cai ◽  
Miriam Bredella ◽  
Vanessa Merker ◽  
...  
Keyword(s):  
Tumor Growth ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Childhood And Adolescence ◽  
Entire Study ◽  
Whole Body Mri

Abstract BACKGROUND Neurofibromas affect 40–50% of neurofibromatosis type 1 (NF1) patients and can cause significant morbidity and mortality. They grow more rapidly during childhood and adolescence but studies in adults are limited by their retrospective nature and follow-up time < 3 years. The long-term natural history of neurofibromas remains unknown. No guidelines exist on the need and frequency of surveillance imaging for patients. Whole-body MRI (WBMRI) can detect whole-body tumor burden, including internal neurofibromas. METHODS 17 adult NF1 patients who underwent WBMRI between 2007–2010 (Scan 1) underwent repeat WBMRI between 2018–2019 (Scan 2). Internal neurofibromas were segmented on short tau inversion recovery (STIR) sequences and tumor volume was calculated using a computerized volumetry and three-dimensional segmentation software. Circumscribed tumors were defined as discrete; invasive tumors or those involving multiple nerves were defined as plexiform. Tumor growth and shrinkage were defined as volume change ≥ 20% over the entire study period. RESULTS Median patient age was 43 years during Scan 1 and 53 years during Scan 2. Median time between Scan 1 and 2 was 9 years. A total of 140 neurofibromas were assessed. 24% of tumors grew by a median 63% (6.8% per year). 54% of tumors spontaneously decreased in volume by a median 60% (7% per year) without treatment. On a per-patient basis, 18% of patients had overall tumor growth and 41% overall tumor shrinkage. 8 new tumors developed in 7 patients. 16 tumors resolved entirely without medical or surgical intervention. Growth behavior did not correlate with discrete or plexiform morphology. CONCLUSION A subset of internal neurofibromas in adult NF1 patients grow significantly over a long-term period, suggesting that continued monitoring of these patients may be warranted. Surprisingly, more than half of neurofibromas shrink spontaneously without intervention. Continued patient enrollment and correlation of imaging findings with functional outcomes are underway.

Chemotherapy for Optic Nerve Glioma in A Child with Neurofibromatosis Type-1

2008 ◽  
Vol 32 (3) ◽  
pp. 159-162 ◽  
Author(s):  
Fulvio Parentin ◽  
Marco Rabusin ◽  
Floriana Zennaro ◽  
Dario Catalano Orth ◽  
Stefano Pensiero
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Nerve Glioma

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

2017 ◽  
Vol 21 (5) ◽  
pp. 379-382 ◽  
Author(s):  
Irene Lara-Corrales ◽  
Mitra Moazzami ◽  
Maria Teresa García-Romero ◽  
Elena Pope ◽  
Patricia Parkin ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Clinical Findings ◽  
Loss Of Function ◽  
Cross Sectional ◽  
Uncommon Presentation ◽  
Sick Children

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. Objectives: Our study’s objectives were to describe the clinical characteristics of children with MNF. Methods: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. Results: We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). Conclusions: MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.

scholarly journals Intraorbital ancient pilocytic astrocytoma of the optic nerve in neurofibromatosis type 1 patient presenting with sudden ocular pain

2018 ◽  
Vol 6 ◽  
pp. 2050313X1876131
Author(s):  
Haesu Lee Motoyama ◽  
Sohsuke Yamada ◽  
Satoko Nakada ◽  
Nozomu Kurose ◽  
Akihide Tanimoto
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Pilocytic Astrocytoma ◽  
English Literature ◽  
Neurofibromatosis Type ◽  
Close Correlation ◽  
Cystic Degeneration ◽  
Ocular Pain ◽  
Fluid Production

Optic nerve pilocytic astrocytoma is an uncommon but well-known entity; however, intraorbital ancient pilocytic astrocytoma of the optic nerve is extremely rarely reported. To our knowledge, this is the first detailed description regarding the intraorbital ancient pilocytic astrocytoma, reported in available English literature, to date. We presented an extremely unusual neurofibromatosis type 1 case of a 17-year-old male’s sudden ocular pain secondary to intraorbital pilocytic astrocytoma of the optic nerve with markedly cystic degeneration, fluid production, and hemorrhage, due to ancient and possibly ruptured glioma. Future prospective studies are required to validate the significance of intraorbital ancient pilocytic astrocytoma arising from the optic nerve and the close correlation with ruptured cystic degeneration and ocular pain, after collecting and investigating a larger number of its cases examined.

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