Hayrullah ALP, FATİH ŞAP, Hakan ALTIN, Zehra KARATAŞ, Tamer BAYSAL, Sevim KARAASLAN, Sevgi PEKCAN

Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1

Loeys-Dietz sendromu kardiovasküler, kraniofasiyal ve iskelet sisteminin tutulduğu nadir bir otozomal dominant hastalıktır. Esas etyoloji, transforming growth faktör beta-reseptör tip 1 ve 2 genlerindeki mutasyonlardır. Günümüzde, Loeys-Dietz sendromu kraniofasiyal bulguların varlığına göre iki alt gruba ayrılmıştır. Aort genişlemesi olan hastalar diseksiyon ve rüptür açısından risk taşırlar. Sonuçta, tanıdaki gecikme kötü prognoz ile sonuçlanabilir. Timomanın eşlik ettiği ve LoeysDietz tip 1 sendromu tanısı konulan yeni bir vakayı sunduk. Ayrıca, vaka sunumu literatürde bir tümörün eşlik ettiği ilk Loeys-Dietz sendromudur.

Anahtar Kelimeler:

Loeys-Dietz sendromu, Timoma, Aort kökü anevrizması, Aort dilatasyonu

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Keywords:

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