Case Report

A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome


  • Mazhar Müslüm Tuna
  • Mehtap Navdar Başaran
  • Berçem Ayçiçek Doğan
  • Ersen Karakılıç
  • Büşranur Çavdarlı
  • Yasemin Tütüncü
  • Dilek Berker
  • Serdar Güler

Received Date: 28.11.2013 Accepted Date: 04.02.2014 Med Bull Haseki 2014;52(3):227-231

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.

Keywords: Neurofibromatosis 1, pheochromocytoma, Noonan syndrome

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