Noonan Sendromlu Çocuk Hastada Bilateral İnmemiş Testis ve Sünnet Vakasında Anestezi Yönetimi
Özet
Noonan sendromu (NS), otozomal dominant geçişli, RAS-MAPK sinyal yolunda gen mutasyonlarına (PTPN11 geni) bağlı olarak gelişen, değişken fenotipli bir genetik hastalıktır. Prevalansı yaklaşık 1/1000 - 1/2500 olup, boy kısalığı, karakteristik yüz bulguları ve çoğunlukla pulmoner stenoz olmak üzere konjenital kalp hastalığı (KoKH) ile karakterizedir. Kardiyak anomaliler, özellikle pulmoner valv stenozu ve hipertrofik kardiyomiyopati, morbidite ve mortalitenin başlıca nedenidir. Bu bölümde, bilateral inmemiş testis ve sünnet operasyonu planlanan NS’li, 2 yaşında erkek çocuk hastada perioperatif anestezi yönetimi sunulmuştur. Hasta, hidrosefalik görünümlü, balon valvüloplasti sonrası rezidüel pulmoner stenozu, atriyal septal defekti (ASD) ve asimetrik septal hipertrofisi olan, propranolol tedavisi altında bir çocuk olarak değerlendirilmiştir. Preoperatif dönemde multidisipliner yaklaşım kapsamında çocuk kardiyoloji ve çocuk nöroloji konsültasyonları tamamlanmış; çocuk kardiyoloji yüksek riskli hasta olarak sınıflandırılmıştır. İntraoperatif süreçte hemodinaminin stabil kalması hedeflenmiş, aritmojenik ilaçlardan kaçınılarak sevofluran ile indüksiyon ve idame sağlanmıştır. Güvenli hava yolu yönetimi için LMA tercih edilmiş, cerrahi sürecin kısa ve stabil seyretmesi postoperatif dönemi olumlu etkilemiştir. Bu olgu, NS’li hastalarda multidisipliner yaklaşım ve bireyselleştirilmiş anestezi planlaması, başarılı bir perioperatif yönetimin temelini oluşturmuştur.
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