Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1

2018 ◽  
Vol 79 (03) ◽  
pp. 268-272
Author(s):  
Sevdalin Nachev ◽  
Lyudmila Todorova ◽  
Marin Marinov ◽  
Jivko Surchev
Keyword(s):  
Optic Nerve ◽  
Pediatric Patients ◽  
Neurofibromatosis Type ◽  
Treatment Modalities ◽  
Surgical Removal ◽  
Optic Nerve Glioma ◽  
History Of ◽  
Contralateral Eye

AbstractOptic nerve glioma (ONG) is associated in 10% of patients with neurofibromatosis (NF) type 1. To date no consensus has been reached regarding the therapeutic approach and prevention of visual impairment in these patients. Reports in the literature vary from a conservative approach (observation) to the use of single treatment modalities or multimodality protocols of surgical removal, radiotherapy, and/or chemotherapy. We present our experience with two siblings with ONG whose mother carries cutaneous stigmata of NF type 1. The younger sister was diagnosed 3 years after the treatment of the older sibling following recommended imaging for screening. Postoperative follow-up for 11 and 15 years, respectively, demonstrated lack of tumor regrowth and preserved vision in the contralateral eye. We discuss the treatment strategy in pediatric patients with orbital ONG associated with NF type 1.

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.

Pediatric cerebellopontine angle and internal auditory canal tumors

2013 ◽  
Vol 12 (4) ◽  
pp. 317-324 ◽  
Author(s):  
Michelle A. Holman ◽  
William R. Schmitt ◽  
Matthew L. Carlson ◽  
Colin L. W. Driscoll ◽  
Charles W. Beatty ◽  
...  
Keyword(s):  
Family History ◽  
Diagnostic Criteria ◽  
Cerebellopontine Angle ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Internal Auditory Canal ◽  
Neurofibromatosis Type ◽  
History Of

Object The aim in this study was to describe the clinical presentation, differential diagnosis, and risk for neurofibromatosis Type 2 (NF2) in pediatric patients presenting with cerebellopontine angle (CPA) and internal auditory canal (IAC) tumors. Methods The authors conducted a retrospective study at a tertiary care academic referral center. All patients with an age ≤ 18 years who had presented with an extraaxial CPA or IAC tumor between 1987 and 2012 were included in the study cohort. Data regarding symptoms, diagnosis, tumor characteristics, and NF2 status were collected and analyzed. Results Sixty patients (55% female, 45% male) harboring 87 tumors were identified. The mean age at diagnosis was 12.8 years (median 14.0 years, range 0.9–18.9 years). Schwannomas were the most commonly identified lesions (57 of 87 tumors, including 52 vestibular, 3 facial, and 2 trigeminal schwannomas), followed by meningiomas (5 of 87) and epidermoid cysts (4 of 87). Six malignant tumors were diagnosed, including small-cell sarcoma, squamous cell carcinoma, malignant meningioma, atypical rhabdoid-teratoid tumor, endolymphatic sac tumor, and malignant ganglioglioma. Headache, followed by hearing loss and imbalance, was the most common presenting symptom, whereas dysphagia, otalgia, and facial pain were uncommon. Neurofibromatosis Type 2 was diagnosed in 20 (61%) of 33 patients with vestibular schwannoma (VS), while the other 13 patients (39%) had sporadic tumors. Nineteen of the 20 patients with NF2 met the diagnostic criteria for that disorder on initial presentation, and 15 of them presented with bilateral VS. At the last follow-up, 19 of the 20 patients subsequently diagnosed with NF2 demonstrated bilateral VSs, whereas 1 patient with a unilateral VS and multiple other NF2-associated tumors has yet to demonstrate a contralateral VS to date. Only 1 patient presenting with an isolated unilateral VS and no family history of NF2 demonstrated a contralateral VS on subsequent radiological screening. Conclusions Cerebellopontine angle and IAC tumors in the pediatric population are rare. There are several noteworthy differences between the adult and pediatric populations harboring these lesions. While VS is the most common pathology in both age groups, the lesion was found in only 60% of the pediatric patients in the present study. Unlike in adults, VSs in the pediatric population were associated with NF2 in over one-half of all cases. The majority of pediatric patients with NF2 fulfilled the diagnostic criteria at initial presentation; however, approximately 7% of patients presenting with a seemingly sporadic (no family history of NF2) unilateral VS will meet the criteria for NF2 later in life. Finally, malignancies account for a significantly higher percentage (10%) of cases among pediatric patients. These findings underscore the importance of early screening and close radiological follow-up and may be helpful in patient counseling.

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

scholarly journals Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sk. Abdul Mahmud ◽  
Neha Shah ◽  
Moumita Chattaraj ◽  
Swagata Gayen
Keyword(s):  
Family History ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Benign Tumors ◽  
History Of

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.

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.

Significant Improvement of Visual Functions after Removal of an Intracranial Giant Optic Nerve Glioma Revealing Exophytic Growth: Case Report

Neurosurgery ◽  
2006 ◽  
Vol 58 (4) ◽  
pp. E792-E792 ◽  
Author(s):  
Zhiyong Tong ◽  
Masahiko Wanibuchi ◽  
Teiji Uede ◽  
Sumiyoshi Tanabe ◽  
Kazuo Hashi
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Residual Tumor ◽  
Neurofibromatosis Type ◽  
Magnetic Resonance Images ◽  
Optic Nerve Glioma ◽  
Visual Functions ◽  
Relationship Of ◽  
The Relationship

Abstract OBJECTIVE AND IMPORTANCE: Intracranial giant optic nerve gliomas, usually presumed as optic chiasmatic gliomas, are much less common. The architectural tumor form of optic nerve glioma without neurofibromatosis type 1 is usually the expansile-intraneural pattern. The exophytic optic nerve gliomas without neurofibromatosis type 1 are relatively uncommon. Surgical decompression for intracranial optic gliomas frequently leads to clinical improvement, but obvious improvement of vision is rare. We report a case that demonstrated significant recovery of visual function after removal of the intracranial giant optic nerve glioma, revealing exophytic growth. CLINICAL PRESENTATION: A 13-year-old boy presented with visual impairment in both eyes. Magnetic resonance images (MRI) disclosed a 6 cm diameter mass in the suprasellar area. On heavily T2-reversed MRIs, it was obvious that the intracranial portion of right optic nerve was enlarged, and optic tracts were shifted to the left by the tumor. The relationship of the tumor to the chiasma could not be affirmed on MRIs. INTERVENTION: A right frontotemporal craniotomy for decompression of the optic apparatus was performed. After the majority of the tumor was resected, it became clear that the tumor originated in the right optic nerve. The tumor exophytically grew and dislocated the optic chiasma and optic tracts. Significant improvement of visual functions began from the first week after surgery and continued gradually thereafter. The histological diagnosis was pilocytic astrocytoma. A follow-up MRI taken 4 years after surgery showed no regrowth of the residual tumor. CONCLUSION: Giant exophytic gliomas without neurofibromatosis type 1 may arise from the intracranial portion of an isolated optic nerve. Direct visualization of optic component by heavily T2-reversed MRI could more precisely delineate the relationship of the intracranial optic nerve glioma to the optic apparatus. Surgery may be indicated in giant exophytic intracranial optic nerve gliomas and preoperative postulated optic chiasmatic gliomas. Microsurgical resection can induce postoperative visual improvement without regrowth of the residual tumor.

Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma

2019 ◽  
Vol 212 (4) ◽  
pp. 892-898
Author(s):  
Hadeel Eid ◽  
Gabriel Crevier-Sorbo ◽  
Ahmed Aldraihem ◽  
Flavia Menegotto ◽  
Nagwa Wilson
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Scoring System ◽  
Neurofibromatosis Type ◽  
Optic Nerve Glioma

scholarly journals Long-term hemorrhagic risk in pediatric patients with arteriovenous malformations

2016 ◽  
Vol 18 (3) ◽  
pp. 329-338 ◽  
Author(s):  
Wuyang Yang ◽  
Heather Anderson-Keightly ◽  
Erick M. Westbroek ◽  
Justin M. Caplan ◽  
Xiaoming Rong ◽  
...  
Keyword(s):  
Natural History ◽  
Functional Outcome ◽  
Functional Outcomes ◽  
Arteriovenous Malformations ◽  
Pediatric Patients ◽  
Treatment Modalities ◽  
Hemorrhagic Risk ◽  
History Of ◽  
Observation Period

OBJECTIVE Compared with the general population, the specific natural history of arteriovenous malformations (AVMs) in pediatric patients is less well understood. Furthermore, few pediatric studies have compared posttreatment hemorrhagic risk and functional outcome across different treatment modalities. The objective of this study was to elucidate these points. METHODS The authors retrospectively reviewed all pediatric patients with AVMs evaluated at their institution between 1990 and 2013. The AVM natural history was represented by hemorrhagic risk during the observation period. For treated patients, the observation period was defined as the interval between diagnosis and treatment. Posttreatment hemorrhagic risk and functional outcomes were also assessed. RESULTS A total of 124 pediatric patients with AVMs were evaluated, and 90 patients (72.6%) were retained through follow-up. The average patient age was 13.3 ± 3.8 years, with a mean follow-up period of 9.95 years. The overall AVM obliteration rate was 59.7%. Radiosurgery had an obliteration rate of 49.0%. Thirteen patients were managed conservatively. Four patients under observation hemorrhaged during a total interval of 429.4 patient-years, translating to an annual risk of 0.9%. Posttreatment hemorrhagic risk by treatment modalities were categorized as follows: surgery ± embolization (0.0%), radiosurgery ± embolization (0.8%), embolization alone (2.8%), surgery + radiosurgery ± embolization (3.5%), and observation (0.8%). A significantly higher risk of posttreatment hemorrhage was observed for patients with hemorrhagic presentation (p = 0.043) in multivariate analysis. Seizure presentation, frontal lobe location, nonheadache presentation, and treatment modality were significantly associated with increased risk of poor functional outcomes. CONCLUSIONS In this study of pediatric patients with AVMs, the natural history of hemorrhage was relatively low at 0.9%. Resection remained the optimal management for hemorrhage control and functional outcome perseverance in these pediatric patients with AVMs. AVM obliteration is a valid treatment goal, especially for patients with ruptured presentation, to prevent further hemorrhages later in life.

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