Elzbieta Czyzyk, Sergiusz Jóźwiak, Marcin Roszkowski, Robert A Schwartz
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This study compared the clinical manifestations and natural history of sporadic and neurofibromatosis 1-associated optic pathway gliomas with regard to age at diagnosis, gender, and findings on neurologic, ophthalmologic, and neuroradiologic examinations in 83 children with optic pathway gliomas: 51 children with neurofibromatosis 1 and 32 children without any symptoms or signs of neurofibromatosis 1. A prospective study was performed in 21 patients with neurofibromatosis 1. In the rest of the patients with neurofibromatosis 1 and in 32 children with sporadic tumors, the analysis was carried out retrospectively. There was an increased incidence of females in the group of patients with neurofibromatosis 1 with optic pathway gliomas compared with the entire group of patients with neurofibromatosis 1 remaining for follow-up (P = .013). All optic pathway gliomas were found in children below 10 years of age, slightly earlier in the group without neurofibromatosis 1 (median age 4.6 vs 4.8 years). Children with optic pathway gliomas associated with neurofibromatosis 1 had predominantly multifocal lesions (P = .0001), whereas in the group without neurofibromatosis 1, isolated chiasmal involvement was more common (P = .002). Children with sporadic gliomas had significantly more frequently increased intracranial pressure, decreased visual acuity, and abnormalities of fundus of the eye at the time of diagnosis. The radiologic progression, visual deterioration, and endocrinologic complications were documented on follow-up more commonly in children with sporadic tumors. Our findings support the concept that there is an earlier and more severe clinical presentation of optic pathway gliomas in children with sporadic tumors than in those associated with neurofibromatosis 1.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"18 7","pages":"471-8"},"PeriodicalIF":2.0000,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/08830738030180070401","citationCount":"145","resultStr":"{\"title\":\"Optic pathway gliomas in children with and without neurofibromatosis 1.\",\"authors\":\"Elzbieta Czyzyk, Sergiusz Jóźwiak, Marcin Roszkowski, Robert A Schwartz\",\"doi\":\"10.1177/08830738030180070401\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Optic pathway gliomas represent 2 to 5% of brain tumors in children. Frequently asymptomatic, sometimes they demonstrate rapid growth, causing considerable visual dysfunction, neurologic deficits, and endocrine disturbances. Most optic pathway gliomas are diagnosed in patients with neurofibromatosis 1. Little is known about their natural course; therefore, there are no clear and widely accepted guidelines for their treatment. This study compared the clinical manifestations and natural history of sporadic and neurofibromatosis 1-associated optic pathway gliomas with regard to age at diagnosis, gender, and findings on neurologic, ophthalmologic, and neuroradiologic examinations in 83 children with optic pathway gliomas: 51 children with neurofibromatosis 1 and 32 children without any symptoms or signs of neurofibromatosis 1. A prospective study was performed in 21 patients with neurofibromatosis 1. In the rest of the patients with neurofibromatosis 1 and in 32 children with sporadic tumors, the analysis was carried out retrospectively. There was an increased incidence of females in the group of patients with neurofibromatosis 1 with optic pathway gliomas compared with the entire group of patients with neurofibromatosis 1 remaining for follow-up (P = .013). All optic pathway gliomas were found in children below 10 years of age, slightly earlier in the group without neurofibromatosis 1 (median age 4.6 vs 4.8 years). Children with optic pathway gliomas associated with neurofibromatosis 1 had predominantly multifocal lesions (P = .0001), whereas in the group without neurofibromatosis 1, isolated chiasmal involvement was more common (P = .002). Children with sporadic gliomas had significantly more frequently increased intracranial pressure, decreased visual acuity, and abnormalities of fundus of the eye at the time of diagnosis. The radiologic progression, visual deterioration, and endocrinologic complications were documented on follow-up more commonly in children with sporadic tumors. 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引用次数: 145
摘要
视神经胶质瘤占儿童脑肿瘤的2%至5%。通常无症状,有时生长迅速,造成相当大的视觉功能障碍、神经功能缺损和内分泌紊乱。大多数视神经胶质瘤是在神经纤维瘤病患者中诊断出来的。人们对它们的自然过程知之甚少;因此,没有明确和广泛接受的治疗指南。本研究比较了83例视神经通路胶质瘤患儿散发性和神经纤维瘤病1相关视神经通路胶质瘤的临床表现和自然史,包括诊断年龄、性别、神经学、眼科和神经影像学检查结果:51例神经纤维瘤病1患儿和32例无任何神经纤维瘤病1症状或体征患儿。对21例神经纤维瘤病患者进行前瞻性研究。对其余的1例神经纤维瘤病患者和32例散发性肿瘤患儿进行回顾性分析。1型神经纤维瘤病合并视神经通路胶质瘤患者组中女性的发生率高于其余随访的1型神经纤维瘤病患者组(P = 0.013)。所有视神经胶质瘤均在10岁以下的儿童中发现,在无神经纤维瘤病组中稍早1(中位年龄4.6 vs 4.8岁)。与神经纤维瘤病1相关的视神经胶质瘤儿童主要有多灶性病变(P = 0.0001),而在没有神经纤维瘤病1的组中,孤立的交叉受累更为常见(P = 0.002)。散发性胶质瘤患儿在诊断时颅内压升高、视力下降和眼底异常的发生率明显更高。散发性肿瘤患儿的放射学进展、视力恶化和内分泌并发症在随访中更为常见。我们的研究结果支持这样一种观点,即散发性肿瘤患儿视神经通路胶质瘤的临床表现比与神经纤维瘤病相关的患儿更早、更严重。
Optic pathway gliomas in children with and without neurofibromatosis 1.
Optic pathway gliomas represent 2 to 5% of brain tumors in children. Frequently asymptomatic, sometimes they demonstrate rapid growth, causing considerable visual dysfunction, neurologic deficits, and endocrine disturbances. Most optic pathway gliomas are diagnosed in patients with neurofibromatosis 1. Little is known about their natural course; therefore, there are no clear and widely accepted guidelines for their treatment. This study compared the clinical manifestations and natural history of sporadic and neurofibromatosis 1-associated optic pathway gliomas with regard to age at diagnosis, gender, and findings on neurologic, ophthalmologic, and neuroradiologic examinations in 83 children with optic pathway gliomas: 51 children with neurofibromatosis 1 and 32 children without any symptoms or signs of neurofibromatosis 1. A prospective study was performed in 21 patients with neurofibromatosis 1. In the rest of the patients with neurofibromatosis 1 and in 32 children with sporadic tumors, the analysis was carried out retrospectively. There was an increased incidence of females in the group of patients with neurofibromatosis 1 with optic pathway gliomas compared with the entire group of patients with neurofibromatosis 1 remaining for follow-up (P = .013). All optic pathway gliomas were found in children below 10 years of age, slightly earlier in the group without neurofibromatosis 1 (median age 4.6 vs 4.8 years). Children with optic pathway gliomas associated with neurofibromatosis 1 had predominantly multifocal lesions (P = .0001), whereas in the group without neurofibromatosis 1, isolated chiasmal involvement was more common (P = .002). Children with sporadic gliomas had significantly more frequently increased intracranial pressure, decreased visual acuity, and abnormalities of fundus of the eye at the time of diagnosis. The radiologic progression, visual deterioration, and endocrinologic complications were documented on follow-up more commonly in children with sporadic tumors. Our findings support the concept that there is an earlier and more severe clinical presentation of optic pathway gliomas in children with sporadic tumors than in those associated with neurofibromatosis 1.
期刊介绍:
The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.