Grating visual acuity impairment assessed by sweep visually evoked potentials in children with optic pathway tumors unable to perform optotype acuity tests / Deficiência na acuidade visual de grades avaliada pelos potenciais visuais evocados de varredura em crianças com tumores da via óptica incapazes de informar a acuidade de optotipos

ABSTRACT Purpose: To determine visual impairment due to optic pathway tumors in children unable to perform recognition acuity tests. Methods: Grating visual acuity scores, in logMAR, were obtained by sweep visually evoked potentials (SVEP) in children with optic pathway tumors. The binocular grating visual acuity deficit was calculated by comparison with age-based norms and then assigned to categories of visual impairment as mild (from 0.10 to 0.39 logMAR), moderate (from 0.40 to 0.79 logMAR), or severe (≥0.80 logMAR). Interocular differences were calculated by subtraction and considered increased if >0.10 logMAR. Results: The participants were 25 children (13 boys; mean ± SD age, 35.1 ± 25.9 months; median age, 32.0 months) with optic pathway tumors (24 gliomas and 1 embryonal tumor), mostly located at the hypothalamic-chiasmatic transition (n=21; 84.0%) with visual abnormalities reported by parents (n=17; 68.0%). The mean grating acuity deficit was 0.60 ± 0.36 logMAR (median, 0.56 logMAR). Visual impairment was detected in all cases and was classified as mild in 10 (40.0%), moderate in 8 (32.0%), and severe in 7 (28.0%) children, along with increased interocular differences (>0.1 logMAR) (n=16; 64.0%). The remarkable ophthalmological abnormalities were nystagmus (n=17; 68.0%), optic disc cupping and/or pallor (n=13; 52.0%), strabismus (n=12; 48.0%), and poor visual behavior (n=9; 36.0%). Conclusion: In children with optic pathway tumors who were unable to perform recognition acuity tests, it was possible to quantify visual impairment by sweep-visually evoked potentials and to evaluate interocular differences in acuity. The severity of age-based grating visual acuity deficit and interocular differences was in accordance with ophthalmological abnormalities and neuroimaging results. Grating visual acuity deficit is useful for characterizing visual status in children with optic pathway tumors and for supporting neuro-oncologic management.(AU)

RESUMO Objetivo: Determinar o grau de deficiência visual em crianças com tumores da via óptica incapazes de informar a acuidade visual de reconhecimento. Método: A acuidade visual de grades, em logMAR, foi estimada por potenciais visuais evocados de varredura em crianças com tumores das vias ópticas. O déficit da acuidade visual de grades binocular foi calculado em relação ao valor mediano normativo esperado para a idade e a deficiência visual, classificada como leve (0,10 a 0,39 logMAR), moderada (0,40 a 0,79 logMAR) ou grave (≥0,80 logMAR). Diferenças inter-oculares foram calculadas por subtração e consideradas aumentadas se >0,10 logMAR. Resultados: Foram avaliadas 25 crianças (13 meninos; média de idade ± DP=35,1± 25,9 meses; mediana=32,0 meses) com tumores da via óptica (24 gliomas e 1 tumor embrionário) localizados particularmente na transição hipotalâmico-quiasmática (n=21; 84,0%) e com anormalidades visuais detectadas pelos pais (n=17; 68,0%). A média do déficit da acuidade de grades foi 0,60 ± 0,36 logMAR (mediana=0,56 logMAR). Observou-se deficiência visual leve em 10 (40,0%), moderada em 8 (32,0%) e grave em 7 (28,0%), além de aumento da diferença interocular da acuidade visual (n=16; 64,0%). As principais alterações oftalmológicas encontradas foram: nistagmo (n=17; 68,0%), aumento da escavação do disco óptico e/ou palidez (n=13; 52,0%), estrabismo (n=12; 48,0%) e comportamento visual pobre (n=9; 36,0%). Conclusão: Em crianças com tumor da via óptica e incapazes de responder aos testes de acuidade visual de reconhecimento, foi possível quantificar deficiência visual por meio dos potenciais visuais evocados de varredura e avaliar a diferença interocular da acuidade visual de grades. A gravidade do déficit da acuidade visual de grades relacionado à idade e a diferença interocular da acuidade visual de grades foram congruentes com alterações oftalmológicas e neuroimagem. O déficit da acuidade visual de grades foi útil à caracterização do estado visual em crianças com tumores da via óptica e ao embasamento da assistência neuro-oncológica.(AU)

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants / 소아과

PURPOSE: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. METHODS: We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. RESULTS: Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18+/-10.5 months, and diagnosis after symptom onset was made at the mean age of 11+/-9.7 months. The mean z score was -3.15+/-1.14 for weight, -0.12+/-1.05 for height, 1.01+/-1.58 for head circumference, and -1.76+/-1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. CONCLUSION: Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

Optic Nerve Glioma with Unilateral Proptosis: An Interesting Case Report.

Optic nerve is most important cranial nerve responsible for visual functioning. Optic nerve involvement leading to blindness can be seen in various diseases, which cause swelling, inflammation, ischemia of the optic nerve. The optic nerve glioma (ONG) comprises 5% of all pediatric intracranial tumor and are a leading cause of unilateral proptosis. ONGs can be associated with neurofibromatosis and are more common than meningiomas. 20-30% of ONGs become symptomatic before the age of 10 years. Visual evoked potential testing is helpful in detecting asymptomatic gliomas. Early detection and prompt management can prevent blindness from gliomas. Treatment of ONG should be tailored to the individual patient. Our patient also showed the presence of unilateral ONG with proptosis. Magnetic resonance imaging was diagnostic. Partial optic atrophy was also present.

Optic Neuritis Mimicking Ischemic Optic Neuropathy and Optic Glioma

PURPOSE: To report a case of optic neuritis difficult to differentiate from ischemic optic neuropathy and optic nerve glioma. CASE SUMMARY: A 63-year-old male visited our clinic because of a sudden painless decrease in visual acuity in his right eye. He had a relative afferent pupillary defect and inferior altitudinal scotoma with disc pallor in his right eye. Ischemic optic neuropathy was suspected based on these clinical observations. However, a focal enhancing lesion was found in the intracranial portion of the right optic nerve on gadolinium-enhanced T1-weighted MRI. The radiologist's report revealed right intracranial optic glioma. Optic neurectomy was planned in accordance with the suspicion for optic glioma. However, a systemic mega-dose methylprednisolone therapy which is relatively less invasive was performed first based on the decision that optic neuritis should be distinguished from optic nerve glioma. The patient was hospitalized and 1 gram of methylprednisolone was injected intravenously daily for 3 days. The patient's visual acuity in the right eye improved from 0.1 before treatment to 0.3 after treatment. MRI scans at 8 months after steroid treatment showed disappearance of the previously enhanced lesion suspicious for optic glioma with developed atrophic change. The patient was finally diagnosed with optic neuritis based on these results. CONCLUSIONS: Careful differential diagnoses and therapeutic approaches to possible diseases are necessary because optic neuritis can manifest as a variety of clinical entities and imaging findings.

Neovascular Glaucoma Following Stereotactic Radiosurgery for an Optic Nerve Glioma: A Case Report

A 13-year-old girl with a right intraorbital optic nerve glioma (ONG) was referred to our glaucoma clinic because of uncontrolled intraocular pressure (IOP) in her right eye. The IOP reached as high as 80 mmHg. Several months earlier, she had undergone stereotactic image-guided robotic radiosurgery using the CyberKnife for her ONG; the mass had become smaller after treatment. Her visual acuity was no light perception. Slit lamp examination revealed rubeosis iridis, a swollen pale optic disc, and vitreous hemorrhage. After medical treatment, the IOP decreased to 34 mmHg, and no pain was reported. Although the mass effect of an ONG can cause neovascular glaucoma (NVG), this case shows that stereotactic radiosurgery may also cause NVG, even after reducing the mass of the tumor. Patients who undergo radiosurgery targeting the periocular area should be followed carefully for complications.

Multiple wedge-shaped retinal nerve fiber layer defects in a patient with optic nerve glioma in the contralateral eye: case report / Múltiplos defeitos localizados da camada de fibras nervosas em um paciente com glioma de nervo óptico no olho contralateral: relato de caso

This case report describes a young non-glaucomatous patient with neurofibromatosis and previous history of optic nerve glioma, which developed multiple wedge-shaped retinal nerve fiber layer defects close to a chorioretinal scar in the fellow eye. After discussing the different possible etiologies to the wedge-shaped defects, the disruption of the nerve fiber layer due to the chorioretinal lesion was considered the most plausible cause. However, further follow-up with visual field assessment, optic nerve head documentation and neuroimaging is mandatory in this case and may provide additional information to better understand it.

Este relato de caso descreve um paciente jovem, sem diagnóstico de glaucoma, portador de neurofibromatose e com história prévia de glioma de nervo óptico em um olho, que desenvolveu múltiplos defeitos localizados na camada de fibras nervosas próximos a uma cicatriz coriorretiniana no olho contralateral. Depois de discutir as diferentes etiologias possíveis para os defeitos localizados, a desorganização da camada de fibras nervosas secundária à lesão coriorretiniana foi considerada a causa mais plausível. Contudo, futuro acompanhamento com campo visual, documentação da cabeça do nervo óptico e neuroimagem é mandatório neste caso e pode fornecer informações adicionais para melhor entendê-lo.

Perineural arachnoidal gliomatosis: case report / Gliomatose aracnoidal perineural: relato de caso

Gliomas are the most common infiltrative neoplasms of the optic nerve and can present as two distinct growth patterns: intraneural glial proliferation and perineural arachnoidal gliomatosis (PAG). It has been suggested that perineural arachnoidal gliomatosis is seen almost exclusively in the setting of neurofibromatosis type 1 (NF1). We describe a child with perineural arachnoidal gliomatosis occurring without neurofibromatosis type 1, supported by both radiographic and histological findings. A 4-year-old female without neurofibromatosis type 1 presented with rapidly progressive right-sided proptosis. Magnetic resonance imaging (MRI) revealed an enhancing fusiform intraconal lesion, which was hypointense on T1 and hyperintense on T2-weighted images: characteristic of perineural arachnoidal gliomatosis, the optic nerve was visualized coursing the tumor. Histopathologic study was consistent with perineural arachnoidal gliomatosis. Perineural arachnoidal gliomatosis can develop independent of neurofibromatosis type 1, as demonstrated by this case.

Gliomas são as neoplasias infiltrativas mais freqüentes do nervo óptico e podem se apresentar através de dois padrões distintos de crescimento: proliferação glial intraneural e gliomatose aracnoidal perineural. Existem evidências de que a gliomatose aracnoidal perineural é vista quase exclusivamente em pacientes com neurofibromatose tipo 1. Descrevemos um caso de gliomatose aracnoidal perineural ocorrendo em criança sem neurofibromatose tipo 1, comprovado tanto por achados radiológicos quanto histológicos. Uma criança de quatro anos de idade, do sexo feminino, sem evidências de neurofibromatose tipo 1, apresentou quadro de proptose à direita rapidamente progressiva. Ressonância magnética revelou lesão intraconal fusiforme hipointensa em T1 e hiperintensa em T2 - característico de gliomatose aracnoidal perineural, o nervo óptico pôde ser observado atravessando o tumor. O estudo histológico foi consistente com gliomatose aracnoidal perineural. Gliomatose aracnoidal perineural pode se desenvolver independente da presença de neurofibromatose tipo 1, como demonstrado por esse caso.

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.

Paciente masculino de 68 anos com história de orbitotomia lateral para exérese de tumor no nervo óptico 18 meses antes em outro serviço. O exame histológico demonstrou glioma do nervo óptico com padrão pilocítico. Um ano após, observou-se novo episódio de proptose no olho direito. Ressonância nuclear magnética das órbitas mostrou massa preenchendo quase toda a cavidade orbitária direita com extensão pelo canal óptico até o quiasma. Foi realizada exenteração da órbita direita com excisão da porção posterior do tumor via transcraniana pela neurocirurgia e reconstrução orbitária. A histologia confirmou astrocitoma pilocítico de baixo grau do nervo óptico.

Glioma de nervo óptico: achados neuro-oftalmológicos em paciente com neurofibromatose tipo I / Optic nerve glioma: neuro-ophthalmologic findings in a patient with neurofibromatosis type I

Este artigo relata o caso de uma criança do sexo feminino, de nove anos de idade, com história de proptose e baixa acuidade visual progressiva. Ao exame oftalmológico apresentava: acuidade visual com a melhor correção 20/20 em olho direito e percepção de luz à esquerda; biomicroscopia sem alterações nos dois olhos; com hipofunção dos músculos reto superior esquerdo e oblíquo inferior esquerdo; exotropia e hipotropia esquerda; fundoscopia à direita normal e edema de papila à esquerda. A Tomografia Computadorizada, apresentou tumor hiperdenso, fusiforme, em trajeto do nervo óptico, sugestivo de gliose do nervo óptico. Ao exame físico constataram-se manchas "café-com-leite" em região torácica e axilar e sardas axilares, preenchendo critérios para Neurofibromatose do tipo I (doença de Von Recklinghausen).

This article reports a case of a female child, nine-years old, with a history of proptosis and progressive decrease of visual acuity. At ophthalmologic exam presented: best corrected visual acuity 20/20 on the right eye and light perception on the left eye; biomicroscopic exam was normal, weakness of left superior rectus and left inferior oblique muscle, exotropia and hypotropia to the left. At indirect ophthalmoscopy exam, fundus was normal on the right eye and had left optic disc with edema. Computerized tomography showed a hiperdense tumor, fusiform shape in the optic pathway, suggesting optic nerve glioma. At physical exam, it was verified "café-au-lait" spots in the thorax and armpits and axillary freckles in the region, filling criteria to neurofibromatosis type I (Von Recklinghausenïs disease).

Optic Nerve Glioma: A Case of Surgical Treatment to the Optic Chiasm Tumor

A twenty nine-year-old woman has suffered for ten years from progressive proptosis and loss of vision in the right eye. Her right eye had deviated out-and-upwards, and its visual acuity was tested by hand motions. With the help of a brain and orbit CT, the tumor was found around the optic nerve and in the parasellar area. This tumor was surgically removed twice by Kroenlein operation and craniotomy, and was treated with irradiation(total dose: 5400 RAD). It was histopathologically diagnosed as astracytoma grade I. In the consecutive study, no evidence of recurrence of the tumor in either the orbit or brain was found.