Carney-Stratakis syndrome is a rare, distinct dyad of familial paraganglioma and gastrointestinal stromal tumor, and is associated with germline mutations in the succinate dehydrogenase genes SDHB, SDHC, and SDHD. We present a unique case of a 45-year-old woman with Carney-Stratakis syndrome who initially presented with a palpable left neck mass. Further workup demonstrated 2 paragangliomas in the neck and multiple SDHB deficient gastrointestinal stromal tumors of the stomach. We describe the imaging findings and clinical course of this rare syndrome.
- Carney-Stratakis syndrome
- Gastrointestinal stromal tumor
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging