title: Neurofibromatosis type 1 and optic pathway glioma. A long-term follow-up.
abstract: OBJECTIVE
  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).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics, Second University of Naples, Naples, Italy. giuliana.lama@unina2.it
authors.forename: G
authors.initials: G
authors.lastname: Lama
authors.forename: M
authors.initials: M
authors.lastname: Esposito Salsano
authors.forename: C
authors.initials: C
authors.lastname: Grassia
authors.forename: E
authors.initials: E
authors.lastname: Calabrese
authors.forename: M G
authors.initials: MG
authors.lastname: Grassia
authors.forename: R
authors.initials: R
authors.lastname: Bismuto
authors.forename: M A B
authors.initials: MA
authors.lastname: Melone
authors.forename: S
authors.initials: S
authors.lastname: Russo
authors.forename: A
authors.initials: A
authors.lastname: Scuotto
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D019586:Intracranial Hypertension / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000453:epidemiology* / Q000473:pathology; D009897:Optic Chiasm / Q000473:pathology; D020339:Optic Nerve Glioma / Q000453:epidemiology* / Q000473:pathology; D015995:Prevalence; D012075:Remission, Spontaneous; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013997:Time Factors; D014795:Visual Pathways / Q000473:pathology*