Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.
Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.
Method: We retrospectively evaluated children with NF1 and OPG involving the chiasm, with (Dodge 3) or without (Dodge 2) hypotalamic involvement seen between 1997 and 2015 at our institution. Details on patient demographics, tumor location, and endocrinological work-up were recorded.
Results: 28 children (13 F) were identified (mean age at diagnosis of OPG 5.1 years). Patients underwent brain MRI mainly because of ophthalmic problems, 3 because of endocrinological signs. 16 patients showed OPG with chiasm involvement, 12 had a Dodge 3 tumor. Eight patients presented with endocrinological disorders at the time of OPG diagnosis or during follow-up: diencephalic syndrome (two girls of 5.5 and 1.3 years), GH hypersecretion (two girls of 3.9 and 3.8 years) and central precocious puberty (in three boys of 3.0, 7.6 and 8.6 years and one 7.6 years old girl). Debulking surgery was performed in 8/28 patients, while none was irradiated. Two of these experienced endocrinological complications after surgery including: GH deficiency in a 9.8 years old boy; and central diabetes insipidus and anterior pituitary deficiency in a 5.6 years old girl with a previous diencephalic syndrome.
Conclusion: Our data suggest that endocrinological disorders occur frequently (32%) in children with NF1 and OPG involving the hypotalamic-chiasmatic region, in particular in those with a specific hypothalamic involvement. Herein we report several rare endocrinological disorders such as diencephalic syndrome, GH hypersecretion and male CPP. A careful auxological follow-up is desirable in children with NF1 given endocrine sign may represent the first element of suspicion of OPG.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology