Abstract
Neurofibromatosis type 1 (NF1) is a autosomal-dominant multi-systemic disorder derives from a mutation in the 17q11.2 gene (1). The incidence is 1 in 2500-3500 live births and the prevalence is 1 in 4000-5000. The characteristic features of this disease are café-au-lait spots, freckling in intertriginous regions and Lisch nodules. Although NF1 is considered as a tumor predisposing sydrome over cenral and peripheral nervous system tumors it presents wide nonneoplastic conditions including pigmental abnormalities (are café-au-lait spots, freckling in intertriginous regions and Lisch nodules), skeleton abnormalities and neurobehavioral abnormalities ( learning disorder, attention deficit disorder, hyperactivity disorder). The initial definition of endocrine disorders, the complication of NF1, goes back to the 1970s. We discussed the prececious puberty detected in the monitoring of NF1 male patient, who is 8 and a half years old, with optic pathway glioma in this paper.
Keywords: nörofibromatozis tip 1, optik gliom, puberte prekoks, GnRH analoğu
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Copyright © 2020 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
