Neurofibromatosis type 1 and optic pathway glioma. A long-term follow-up

• Published in: Minerva pediatrica Vol. 59; no. 1; p. 13
• Main Authors: Lama, G, Esposito Salsano, M, Grassia, C, Calabrese, E, Grassia, M G, Bismuto, R, Melone, M A B, Russo, S, Scuotto, A
• Format: Journal Article
• Language: English
• Published: Italy 01.02.2007
• Subjects: Adolescent; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Intracranial Hypertension - epidemiology; Magnetic Resonance Imaging; Male; Neurofibromatosis 1 - epidemiology; Neurofibromatosis 1 - pathology; Optic Chiasm - pathology; Optic Nerve Glioma - epidemiology; Optic Nerve Glioma - pathology; Prevalence; Remission, Spontaneous; Retrospective Studies; Severity of Illness Index; Time Factors; Visual Pathways - pathology
• ISSN: 0026-4946

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.