Özet:

Neurophibromatosis Type 1 (NF1) is an autosomal dominant multisystemic disease caused by mutations in 17q11.2 genes (1). The incidence is approximately 2500-3500 1 in living births and the prevalence is 1 in 4000-5000. Their characteristic features are caffe’au-lait spots, swelling in curved places and Lisch nodules (iris hamartomazu).  Although NF1 is considered a tumor predisposing syndrome on central and peripheral nervous system tumors (gliom and neurophibrom), it shows widespread nonneoplastic conditions, including pigmental abnormalities (cafe'au-lait spots, swelling and Lisch nodes in the curvature), bone abnormalities and neurodegenerative abnormalities (learning difficulty, lack of attention, hyperactivity disorder) (2.3). The first detection of endocrine disorders, the complication of NF1, goes to the 1970s, many of which are isolated case reports or case series. In this article, we discussed the puberty precox condition identified in the observations of a 8-year-old 6-month male patient followed by NF1 accompanied by optical gliom in our clinic.

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