Feokromositomanın nadir bir sebebi; nörofibromatozis tip 1-noonan sendromu
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Dosyalar
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
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. © 2014, Haseki Training and Research Hospital. All rights reserved.
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. © 2014, Haseki Training and Research Hospital. All rights reserved.
Açıklama
Anahtar Kelimeler
Von Recklinghausen Hastalığı (Nörofibromatosis 1), Feokromositoma, Noonan Sendromu, Neurofibromatosis 1, Noonan Syndrome, Pheochromocytoma
Kaynak
Haseki Tıp Bülteni
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
52
Sayı
3
Künye
Tuna, M. M., Başaran, M. N., Doğan, B. A., Karakılıç, E., Çavdarlı, B., Tütüncü, Y., Berker, D., Güler, S. (2014). Feokromositomanın nadir bir sebebi; nörofibromatozis tip 1-noonan sendromu. Haseki Tıp Bülteni, 52(3), 227-231.
