Yaprak Özüm ÜNSAL, Ozge Yilmaz KUSBECI, Rıfat Reha BİLGİN

ERİŞKİN YAŞTA NADİR BİR OLGU: ATAKSİ- TELENJİEKTAZİ

Giriş: Ataksi Telenjiektazi, otozomal resesif geçişli nörodejeneratif bir hastalıktır. Erken çocukluk döneminde başlayan progresif serebellar ataksi, okulokutanöz telenjiektaziler, hücresel ve hümoral immün yetmezlikler ve artmış malignite riski göze çarpmaktadır. Olgu: 24 yaşında, nörogelişimsel basamaklarını zamanında tamamlamış olduğu belirtilen hastanın altı yaşından itibaren başlayan ve yavaş yavaş ilerleyen dengesiz yürüme, konuşmada peltekleşme ve okul başarısında düşme yakınmaları ile farklı kliniklere başvurmuş olduğu öğrenildi. On yaşından beri tekerlekli sandalyeye bağımlı olmakla birlikte her iki skleradaki telenjiektaziler ailesi tarafından altı yaşında fark edilmişti. Sonuç: Ataksi telenjiektazi tanısı konulan olgumuz klinik ve patalojik özellikleriyle literatür eşliğinde sunulmuştur.

A RARE CASE IN ADULT YEARS: ATAXIA TELENJIECTASIA

Introduction: Ataxia telengiectasia is an autosomal recessively trasmitted, neurodegenerative disease. Progressive cerebellar ataxia initiating in the early childhood, oculocutaneous telengiectases, cellular and humoral immunodeficiency and increased risk for malignancy is observed clinically. Case: Twenty-four years old female patient, had a normal growth and development period until six years old, applied different hospitals with a slowly progressive imbalanced walking, lipsing speech and a decrease in success at school. She became wheelchair dependent since ten years old. Telengiectases in both scleras were noticed by her family at six years old. Conclusion: We presented the clinical and pathological features of our case who was diagnosed ataxia telengiectasia with regard to literature.

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