OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS

Year 2020, , 89 - 91, 27.01.2020

Zehra Nihan Coşkun

https://doi.org/10.12956/tchd.509106

Abstract

Nörofibromatozis Tip 1
(NF1) 17q11.2 geninde mutasyondan kaynaklanan otozomal dominant multisistemik
bir hastalıktır (1). İnsidansı yaklaşık 2500-3500 canlı doğumda 1 ve prevelansı
4000-5000 de 1dir. Karakteristik özellikleri cafe´-au-lait lekeleri, kıvrım
yerlerinde koyulaşma ve Lisch nodülleridir (iris hamartomazu).  NF1 santral ve periferal sinir sistemi
tümörleri (gliom ve nörofibrom) üzerine tümör predispozan sendrom olarak
düşünülse de pigmental anormallikler (cafe´-au-lait lekeleri, kıvrım yerlerinde
koyulaşma ve Lisch nodülleri), iskelet anomalileri ve nörodavranışsal
anomalileri (öğrenme güçlüğü, dikkat eksikliği hiperakivite bozukluğu) içeren
geniş nonneoplastik durumları sergiler (2.3). NF1 in komplikasyonu olan
endokrin bozukluklarının ilk tanımlamaları 1970lere kadar gitmektedir, bunların
birçoğu izole vaka raporu veya vaka serisidir. Bu yazıda kliniğimizde optik
gliomun eşlik ettiği NF1 ile takip edilen 8 yaş 6 aylık erkek hastanın
izlemlerinde tespit edilen puberte prekoks durumunu ele aldık.

Keywords

nörofibromatozis tip 1, optik gliom, puberte prekoks, GnRH analoğu

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