AI Summary & Key Takeaways
AI InsightShe was subsequently diagnosed as having Keutel syndrome with cartilage calcification on the tracheobranchial tree and auricula, atypical facial features, recurrent otitis media, hearing loss, and recurrent asthma-like symptoms.
📌 3 Key Takeaways
Abstract
Tracheobronchial cartilage calcification is a rare finding in the pediatric population. Keutel syndrome (OMIM 245150) is a very rare syndrome characterized with diffuse calcification of cartilage, brachytelephalangia, pulmonary stenosis, midline defects, stippled epiphysis in infancy, and hearing loss accompanied by recurrent respiratory infections and asthma-like attacks. Here, we present a 14-year-old patient who was followed up with the diagno-sis of asthma, but did not respond to appropriate asthma treatment. She was subsequently diagnosed as having Keutel syndrome with cartilage calcification on the tracheobranchial tree and auricula, atypical facial features, recurrent otitis media, hearing loss, and recurrent asthma-like symptoms.
Özet
Çocuk popülasyonda trakeobronşial kıkırdak kalsifikasyonu nadir bir bulgudur. Keutel send-romu (OMIM 245150) astım benzeri ataklar ve tekrarlayan alt solunum yolu enfeksiyonları ile birlikte diffüz kıkırdak kalsifikasyonu, brakiotelofalanji, orta hat defektleri, işitme kaybı ile karakterize nadir görülen bir sendromdur. Biz burada astım tanısıyla takip edilen ancak astım tedavilerine yanıtsız 14 yaşında bir olgu sunuyoruz. Bu hasta trakeobronşial ağaç ve aurikulada kalsifikasyon, atipik yüz görünümü, tekrarlayan otitis media, işitme kaybı ve tekrarlayan astım benzeri ataklar ile Keutel sendromu tanısı aldı.