AI Summary & Key Takeaways
AI InsightHere, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS.
📌 3 Key Takeaways
Abstract
Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS) is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS.
Özet
Nörofibromatozis Tip 1 (NF-1); otozomal dominant geçişli ve yaklaşık 1/3000 sıklığında görülen bir hastalıktır. Hastalık cafe au lait lekeleri, nörofibromlar, optik gliom, lisch nodülleri ve diğer sistem tutulumları ile giden nörokutan bir sendromdur. Noonan sendromu dismorfik yüz bulguları, konjenital kalp hastalığı, boy kısalığı, boyun anomalileri ve göğüs deformiteleri ile karakterize heterojen bir sendromdur. NF-Noonan sendromu ise her iki klinik tablonun bir arada bulunduğu oldukça nadir görülen bir durumdur. Feokromositoma eşlik etmesi nadir görülmekle birlikte tedavi edilmediğinde mortal seyretmektedir. Sağ üst kadranda kitle nedeni ile başvuran ve feokromositoma ve NF 1-Noonan sendromu birlikteliği tanısı alan hastayı sunduk.