Lama G, Esposito Salsano M, Grassia C, Calabrese E, Grassia M G, Bismuto R, Melone M A B, Russo S, Scuotto A
Department of Paediatrics, Second University of Naples, Naples, Italy.
Minerva Pediatr. 2007 Feb;59(1):13-21.
Optic pathway gliomas (OPG) are the predominant intracranial tumours associated with neurofibromatosis type 1 (NF1). The aim of this study was to evaluate the prevalence and the outcome of OPG in 200 NF1 patients (122 males and 78 females, aged 1-25 years) followed up to 16 years (mean of 6 years).
All children were evaluated by a detailed physical, neurological and ophthalmological examination. Fifteen out of 200 (7.5%) of these patients (7 males, 8 females) were identified with evidence of optic pathway tumours.
Nine children had symptoms such as endocranial hypertension, seizures, headache; 4 patients only showed anomalies at ophthalmological examination; 2 patients had no symptoms or signs. All children had evidence of optic pathway tumour on magnetic resonance imaging. Three had a prechiasmal tumour, 2 had a chiasmal tumour, 1 had prechiasmal/chiasmal tumour, 2 had a prechiasmal/chiasmal and postchiasmal tumour, 2 had a chiasmal and postchiasmal tumour, 4 had a massive involvement of the optic system, 1 child exhibited a bilateral involvement of the optic nerves with additional impairment of the chiasm. Four patients had partial and/or subtotal spontaneous regression.
Because optic pathway tumours arise in children younger than 6 years of age, all NF1 children should undergo yearly ophtalmologic examination and growth assessment to monitor signs of precocious puberty.
视路胶质瘤（OPG）是与1型神经纤维瘤病（NF1）相关的主要颅内肿瘤。本研究的目的是评估200例NF1患者（122例男性和78例女性，年龄1至25岁）中OPG的患病率及预后，随访时间长达16年（平均6年）。
所有儿童均接受详细的体格、神经和眼科检查。这200例患者中有15例（7.5%）（7例男性，8例女性）被确定有视路肿瘤的证据。
9名儿童有颅内高压、癫痫发作、头痛等症状；4例患者仅在眼科检查时显示异常；2例患者无症状或体征。所有儿童在磁共振成像上均有视路肿瘤的证据。3例有视交叉前肿瘤，2例有视交叉肿瘤，1例有视交叉前/视交叉肿瘤，2例有视交叉前/视交叉和视交叉后肿瘤，2例有视交叉和视交叉后肿瘤，4例视神经广泛受累，1名儿童表现为双侧视神经受累且视交叉有额外损害。4例患者有部分和/或不完全自发消退。
由于视路肿瘤发生于6岁以下儿童，所有NF1儿童均应每年接受眼科检查和生长评估，以监测性早熟迹象。
