The clinical picture and diagnosis of optic nerve gliomas in adults

Gliomas of the optic nerve are more often in childhood and adolescence. The present paper analyzes the clinical features and diagnosis of optic nerve gliomas in 41 adult patients aged 15 to 56. Comparative analysis of the clinical picture and diagnostic specificities in optic nerve gliomas in adults and children has revealed a longer duration of the disease, less manifest exophthalmos and dilatation of the optic canal on the side of the tumor in adults. Analysis of computerized tomography data has prompted singling out 2 types of optic nerve glioma images: (1) spindle-shaped dilatation of the optic nerve in the orbit and (2) even thickening of the optic nerve along its whole length in the orbit. Each of these glioma tomographic images is associated with specific clinical features. Differential diagnosis between optic nerve gliomas and meningiomas in adults in described.     

Tumors of the optic nerve and chiasm

Optic nerve gliomas and meningiomas, which remain puzzling to clinicians, are reviewed with special attention to natural history, magnetic resonance findings, and appropriate management. New histopathological insights established the true neoplastic nature of optic nerve gliomas considered by most clinicians to be benign hamartomas. Unusual presenting manifestations and therapeutic alternatives of optic glioma have been also considered. Since the association of optic nerve gliomas and meningiomas with neurofibromatosis has long been recognized, special attention has been drawn to clinical, genetic, and ophthalmologic aspects of neurofibromatosis. New and unusual presenting manifestations, diagnostic and treatment opportunities concerning optic nerve involvement in metastatic disease, and lymphomatous proliferation are also described.     

Acute visual loss due to a calcified optic nerve glioma

Optic nerve gliomas are slow-growing tumours most commonly seen in children under 10 years of age. Rapidly progressive proptosis and rapid visual deterioration are uncommon but may occur owing to accumulation of mucoid material, necrosis or hemorrhage. We describe a patient with an optic nerve glioma who manifested sudden proptosis and blindness caused by hemorrhage within the optic nerve sheath. The visual acuity returned to 20/25 after surgical decompression of the nerve and high-dose steroid therapy. Histopathological examination was required to establish the diagnosis of optic nerve glioma with extensive calcification. Optic nerve decompression or short-term high-dose steroid therapy, or both, may be helpful in recovering visual function in selected patients with optic nerve gliomas who have acute visual loss.     

Optic glioma of childhood: clinical, histopathological, and histochemical observations.

This report documents the long-term clinical and histopathological behaviour of eight intraorbital and 16 intracranial optic nerve gliomas and relates the therapeutic data to the prognosis for both visual acuity and survival. The mean age at onset of symptoms was 8.6 years and at the diagnosis 10.9 years. It is generally held that proptosis is mild in intraorbital glioma, but we encountered marked proptosis ranging from 7 to 12 mm in six of the eight intraorbital gliomas, which contained abundant Alcian-blue-positive mucoid material. Of the patients with intracranial optic nerve gliomas 37.5% survived for a mean of eight years after treatment with radiotherapy or surgery combined with radiotherapy. At follow-up ranging from five months to 11 years only one of the six patients with intracranial gliomas had full visual acuity. Our observations emphasise that, although optic nerve gliomas are benign hamartomas, the prognosis for visual acuity and survival is unfavourable in cases which are diagnosed and treated late. Histopathological and histochemical observations suggest that increase in the amount of mucoid material may contribute to rapid enlargement of intraorbital and intracranial optic gliomas.     

Unilateral adult malignant optic nerve glioma

Introduction Adult malignant optic nerve gliomas are rare and rapidly fatal visual pathway tumours. They represent a clinical entity different from the more common childhood benign optic nerve gliomas, which are frequently associated with neurofibromatosis I.Case report A 61-year-old woman presented with rapidly progressing right vision loss, lower altitudinal visual field defect and papilloedema. MRI showed intraorbital and intracranial swelling of the right optic nerve. Resection of the intracranial part of the right optic nerve up to the chiasm revealed anaplastic astrocytoma grade III. Within 1 year, the patient died of leptomeningeal metastasis despite radiotherapy. Clinical and MRI evaluation of the left eye and optic nerve were normal at all times.Discussion Unilateral adult malignant glioma of the optic nerve is exceptional. The final diagnosis was only confirmed by optic nerve biopsy. In the literature, only one patient has been reported with a unilateral tumour manifestation; he was lost to follow-up 3 months later. All other cases were bilateral. To date, 44 case reports of adult malignant optic nerve glioma have been published, either malignant astrocytoma or glioblastoma. These tumours can mimic optic neuritis in their initial presentation. The diagnosis is seldom made before craniotomy. On MRI images, malignant glioma cannot be distinguished from optic nerve enlargement due to other causes. Although radiotherapy appears to prolong life expectancy, all presently available treatment options (radiation, surgery, radio-chemotherapy) are of limited value. Most patients go blind and die within 1 or 2 years.This paper was presented in part at the 101st Meeting of the German Ophthalmological Society (DOG).     

Orbital optic nerve gliomas in children with neurofibromatosis type 1

PURPOSE: To describe the clinical course and treatment of symptomatic orbital optic nerve gliomas in children with neurofibromatosis type-1 (NF-1). METHODS: A retrospective review of the records of patients with NF-1 and symptomatic orbital optic nerve gliomas seen in a large multidisciplinary NF-1 clinic of a tertiary care children's hospital. The main outcome measures included presenting symptoms and signs, ophthalmologic examination at diagnosis, the presence of progressive disease following diagnosis, type of therapy, and the reasons therapy was instituted. RESULTS: Twelve patients with symptomatic orbital optic nerve gliomas, all of which led to proptosis (eight girls, four boys), were identified. The mean age of diagnosis of NF-1 was 20 months; the mean age of diagnosis of the orbital optic nerve glioma was 26 months. At the time of diagnosis of the tumor, 10 of 12 patients (83%) had decreased visual acuity in the affected eye. Three patients underwent optic nerve resection; eight received chemotherapy, and one was observed without therapy. Of the eight children who received chemotherapy, progressive disease prior to treatment could be documented in only three; none of these eight children had a reproducible improvement in vision following chemotherapy. There was no demonstrable improvement in vision in any treated patient with NF-1-associated orbital optic nerve gliomas. CONCLUSIONS: Although not definitively proven, our data and previous studies suggest that NF-1-associated orbital optic nerve gliomas should not be treated unless there is clear evidence of either ophthalmologic or radiographic progression. Surgical excision of tumors which have led to proptotic eyes without functional vision should be reserved for cosmetic purposes or to treat complications of exposed globes.     

To image or not to image

An 8-year-old girl was first seen at the age of 4 with nystagmus and hypoplastic discs. Subsequent follow-up demonstrated poor visual acuity and optic atrophy. A CT scan showed a chiasmal or perichiasmal mass. The presumptive diagnosis of an optic chiasmal glioma is being considered. The use of neuroimaging in chiasmal or perichiasmal lesions and the natural history and treatment of optic nerve and chiasmal gliomas are discussed.     

Aggressive Low-Grade Optic Nerve Glioma in Adults

Primary optic nerve gliomas are most commonly benign pilocytic astrocytomas (World Health Organization [WHO] Grade I) occurring in childhood and following an indolent course. Malignant optic gliomas occur in adulthood and follow an extremely aggressive course, with rapid infiltration of the chiasm, blindness, and death typically within months. A third category of optic glioma, occurring in adulthood, histopathologically benign (WHO Grade I–II) but following an aggressive course, has been rarely reported. The authors describe clinical and histopathologic features of clinically aggressive but histopathologically benign optic nerve gliomas of adulthood. Retrospective review of cases of biopsy-proven optic nerve glioma in the neuro-ophthalmology division of the Jules Stein Eye Institute from 1990 to 2011 was carried out. Cases following an aggressive course were selected for review of clinical, neuroradiologic, and histopathologic features. Three cases were selected for detailed study. Ages ranged from 31 to 45 years. All were initially diagnosed with optic nerve inflammation or benign neoplasm based on clinical and neuroradiologic features, but all suffered neuroradiologic extension and rapid deterioration of vision in the affected eye to no light perception over 3–8 weeks. Optic nerve biopsies were undertaken for the suspicion of malignancy. Features ranged from WHO Grade I (pilocytic astrocytoma, ganglioglioma) in two cases, to WHO Grade II in one case (diffuse astrocytoma, histopathologically benign, but associated with aggressive features such as high p53 [13–21%] and Ki-67 [40%]). The diffuse astrocytoma case subsequently developed extensive intracranial extension suspicious for malignant transformation. These findings indicate that benign optic nerve glioma in adults may be initially misdiagnosed as inflammation, be clinically aggressive, and require excision to prevent further intracranial involvement.     

Aggressive Low-Grade Optic Nerve Glioma in Adults

Abstract

Primary optic nerve gliomas are most commonly benign pilocytic astrocytomas (World Health Organization [WHO] Grade I) occurring in childhood and following an indolent course. Malignant optic gliomas occur in adulthood and follow an extremely aggressive course, with rapid infiltration of the chiasm, blindness, and death typically within months. A third category of optic glioma, occurring in adulthood, histopathologically benign (WHO Grade I–II) but following an aggressive course, has been rarely reported. The authors describe clinical and histopathologic features of clinically aggressive but histopathologically benign optic nerve gliomas of adulthood. Retrospective review of cases of biopsy-proven optic nerve glioma in the neuro-ophthalmology division of the Jules Stein Eye Institute from 1990 to 2011 was carried out. Cases following an aggressive course were selected for review of clinical, neuroradiologic, and histopathologic features. Three cases were selected for detailed study. Ages ranged from 31 to 45 years. All were initially diagnosed with optic nerve inflammation or benign neoplasm based on clinical and neuroradiologic features, but all suffered neuroradiologic extension and rapid deterioration of vision in the affected eye to no light perception over 3–8 weeks. Optic nerve biopsies were undertaken for the suspicion of malignancy. Features ranged from WHO Grade I (pilocytic astrocytoma, ganglioglioma) in two cases, to WHO Grade II in one case (diffuse astrocytoma, histopathologically benign, but associated with aggressive features such as high p53 [13–21%] and Ki-67 [40%]). The diffuse astrocytoma case subsequently developed extensive intracranial extension suspicious for malignant transformation. These findings indicate that benign optic nerve glioma in adults may be initially misdiagnosed as inflammation, be clinically aggressive, and require excision to prevent further intracranial involvement.     

视神经肿瘤36例临床分析

分析视神经源性肿瘤患者的病史、临床表现、影像学检查和治疗方法,为其诊断和治疗提供帮助。 方法：对视神经胶质瘤和视神经鞘脑膜瘤患者的临床资料进行分析。 结果：视神经胶质瘤的15例患者中以发现眼球突出为主诉的病例为6例,以发现视力下降为主诉的5例,眼球突出合并视力下降的2例;视神经鞘脑膜瘤组21例患者中以眼球突出为主诉的病例为13例,视力下降5例,眼球突出合并视力下降的3例。超声检查、CT、MRI检查均有典型表现;30例患者经手术治疗,6例经伽玛刀治疗。 结论:视神经源性肿瘤在眼部检查及影像学表现上有一定的特征性,对于辅助诊断具有重要价值;治疗方案应视患者的具体情况综合制定,目前以手术及放射治疗为主。     

Orbital color Doppler imaging of optic nerve tumors

Objective: To report changes in retinal arterial and venous blood flow pattern in two patients with tumors involving the entire optic nerve. Methods: Retrospective review of one patient with clinical and neuroimaging characteristics typical of bilateral optic nerve gliomas and one patient with a probable meningioma of the left optic nerve sheath. Results: The optic nerve glioma patient had reduced peak systolic velocity of central retinal arteries bilaterally, while the patient with an optic nerve sheath meningioma had relatively low central retinal artery flow velocity and intermittent blood flow in the central retinal vein on the affected side. Conclusions: Reduced retinal arterial flowvelocities in the setting of optic nerve gliomas may correlate with thepresence of optic nerve disease. Phasic blood flow in the central retinalvein with optic nerve sheath meningioma may be the reason that somepatients with this tumor develop retinal choroidal venous anastomoses.     

Optic nerve glioma and the management of optic nerve tumours in the young.

Thirty-one patients presenting as orbital optic nerve glioma have been reviewed with maximum follow-up of 14 years. Sixteen of these patients have been reported on previously and further follow-up is provided. Sixteen patients had a stable clinical course with little change over a period of up to 13.5 years. Neurofibromatosis was relatively common in this group (11/16). Fifteen patients had progressive enlargement of the tumour; the incidence of neurofibromatosis in this group was low (4/15). Eleven of these patients were explored neurosurgically and the optic nerve totally excised in 10 of them. The proximal cut end was normal in six patients and the chiasm has apparently remained free of tumour in all of them. We suggest a method of management of primary optic nerve tumours, both meningiomas and gliomas, in young patients.     

Optic Nerve Sheath Meningioma in the First Decade of Life: Case Report and Review of the Literature

Background/Aim

Tumors of the optic nerve are mostly either optic nerve gliomas or optic nerve sheath meningiomas (ONSMs). While gliomas occur in children, most meningiomas are slow-growing tumors affecting middle-aged individuals with progressive visual loss, proptosis, disc edema and optociliary veins on fundus examination. ONSMs are extremely rare in children, with only 14 cases reported in children under the age of 10 years. The purpose of this study is to describe an additional case and review clinical, radiologic and histopathological findings that can help differentiate such tumors in children and allow an early and accurate diagnosis.

Case Report

An 8-year-old girl had a 2-year history of progressive proptosis and total visual loss on the right side. A computed tomography scan revealed a well-defined intraconal mass with perioptic calcification. Magnetic resonance imaging showed a tumor surrounding the optic nerve and extending intracranially, with enhancement following gadolinium injection. The patient was submitted to fronto-orbital craniotomy for complete tumor excision. Histological studies identified the neoplasm as ONSM.

Conclusions

Though unusual, ONSMs may occur in children and, in these cases, present a much more aggressive behavior than in adults. ONSM should therefore be differentiated from optic glioma in children because of its aggressive behavior and need for different treatment modalities.Key Words: Optic nerve neoplasms, Benign optic nerve sheath neoplasm, Meningioma     

Optic glioma with intraocular tumor and seeding in a child with neurofibromatosis

We treated a 3-year-old boy with neurofibromatosis who had an optic glioma, intraocular extension with seeding, and iris tumors. On the basis of results of ultrasonography, computed tomography, magnetic resonance imaging, and fine needle aspiration, other intraocular and orbital tumors were excluded. Because of the malignant intraocular aspect, the optic nerve glioma was extirpated. Histologic examination confirmed the diagnosis of an optic nerve glioma with intraocular extension, seeding, and iris nodules. In this juvenile pilocytic astrocytoma with secondary perineural fibrous hyperplasia, several mitoses were found in the orbital and intraocular parts. In the optic canal, three small islands were found that were compatible with the diagnosis of malignant astrocytoma, grade 3. The iris nevi appeared as iris pits and not like the Lisch nodules typical of neurofibromatosis. Café au lait spots were present on the skin. The family history was positive for neurofibromatosis. The results of this study demonstrate that optic gliomas are true astrocytomas and not hamartomas, and have a continuous scale from benign to malignant differentiation.     

PDCD4和B7-H4在儿童视神经胶质瘤中的表达及临床意义

目的：研究PDCD4和B7-H4在儿童视神经胶质瘤中的表达及临床意义。方法：采用免疫组织化学法对52例儿童视神经胶质瘤手术切除标本中PDCD4和B7-H4的表达进行检测,评估PDCD4和B7-H4的表达与儿童视神经胶质瘤临床病理因素的关系。结果：PDCD4在胶质瘤组织的阳性表达降低：52例胶质瘤组织中PDCD4表达阳性率随着肿瘤恶性程度增加呈降低趋势（P〈0.01）;B7-H4在胶质瘤组织的阳性表达增高：B7-H4在52例胶质瘤组织中阳性率随着肿瘤恶性程度增加显著增高（P〈0.01）;脑胶质瘤中PDCD4与B7-H4表达负相关（P〈0.01）。结论：PDCD4和B7-H4与儿童视神经胶质瘤的恶性程度有关,对于儿童视神经胶质瘤的转移防治及预后具有一定的临床意义。     

PDCD4和B7-H4 在儿童视神经胶质瘤中的表达及临床意义

目的：研究PDCD4和B7-H4 在儿童视神经胶质瘤中的表达及临床意义。

方法：采用免疫组织化学法对52例儿童视神经胶质瘤手术切除标本中PDCD4和B7-H4的表达进行检测,评估PDCD4和B7-H4的表达与儿童视神经胶质瘤临床病理因素的关系。

结果：PDCD4在胶质瘤组织的阳性表达降低：52例胶质瘤组织中PDCD4表达阳性率随着肿瘤恶性程度增加呈降低趋势(P<0.01); B7-H4在胶质瘤组织的阳性表达增高：B7-H4在52例胶质瘤组织中阳性率随着肿瘤恶性程度增加显著增高(P<0.01); 脑胶质瘤中PDCD4与B7-H4表达负相关(P<0.01)。

结论：PDCD4和B7-H4与儿童视神经胶质瘤的恶性程度有关,对于儿童视神经胶质瘤的转移防治及预后具有一定的临床意义。     

Computertomography for diagnosis of optic nerve and chiasmal gliomas (author's transl)]

Discussion of the clinical symptomatology of optic nerve and chiasmal gliomas based on personal observations. Evaluation of plain X-ray diagnostic procedures, A-scan ultrasonography and especially computertomography for diagnosis of optic nerve and chiasmal gliomas. Discussion of modern attitude in treatment of these tumors: surgical, irradiation therapy.     

Arachnoid hyperplasia in optic nerve glioma: confusion with orbital meningioma.

A case is reported of an optic nerve glioma with a marked degree of arachnoid hyperplasia which was initially diagnosed as an optic nerve meningioma. Hyperplasia of the arachnoid was also the underlying cause for expansion of the optic canal. The relationship between arachnoid hyperplasia in optic nerve glioma and meningioma of the optic nerve sheath in childhood is discussed.     

Isolated low grade pilocytic astrocytoma of the optic nerve in the elderly: case report

A 68-year-old man presented with a history of a right optic glioma. Eighteen months ago he underwent a lateral orbitotomy at another institution for removal of an optic nerve mass. At that time histology revealed that the tumor was an optic nerve glioma with a pilocytic pattern. No further treatment was instituted and one year after surgery he noticed that his right eye was proptotic again. Magnetic resonance imaging of the orbit showed that his right orbit was almost completely filled with a mass which extended through the optic canal to the chiasma. The tumor was excised by a combined neurosurgical and orbital approach. Histology proved that the neoplasm was a low grade pilocytic astrocytoma of the optic nerve.