Neurofibromatosis type 1 and optic pathway glioma. A long-term follow-up.
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.
Lama
G
G
Department of Paediatrics, Second University of Naples, Naples, Italy. giuliana.lama@unina2.it
Esposito Salsano
M
M
Grassia
C
C
Calabrese
E
E
Grassia
M G
MG
Bismuto
R
R
Melone
M A B
MA
Russo
S
S
Scuotto
A
A
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*