Carney-Stratakis Syndrome Caused by a Novel SDHD Mutation

Abstract

ABSTRACT Objective: To raise awareness of the clinical presentation and genetic features of Carney-Stratakis syndrome (CSS) and demonstrate the importance of multimodality imaging in such patients. Method: A case report of an unusual case of CSS due to a novel succinate dehydrogenase D (SDHD) mutation. Results: A 39-year-old Caucasian male who presented with abdominal discomfort and reflux symptoms was found to have a gastrointestinal stromal tumor (GIST) arising from the stomach. A contrast computed tomography (CT) scan of the chest, abdomen, and pelvis subsequently revealed a right carotid body paraganglioma (PGL), a left cervical (C2) PGL, the GIST, and a left supra-adrenal tumor. He underwent a laparoscopic left supra-adrenal PGL resection. Postoperatively, he was seen in our institution, and a 68-Ga-DOTA octreotate (DOTATATE) positron emission tomography (PET) scan demonstrated avid uptake in the bilateral carotid body tumors, the GIST, and in an extracardiac PGL between the origin of the ascending a...