Key result
Multimodality imaging and genetic testing differentiate Carney-Stratakis syndrome from Carney triad in occult mediastinal paraganglioma.
Why the study?
Carney-Stratakis Syndrome is a distinct clinical entity from Carney Triad, requiring differentiation through imaging and genetic testing.
Case Report (n=1)
Multimodality imaging and genetic testing are valuable for diagnosing Carney-Stratakis Syndrome and differentiating it from Carney Triad.
Multimodality imaging and genetic testing aid Carney-Stratakis diagnosis; leaves open prospective validation in larger cohorts.
Carney-Stratakis Syndrome is defined as the combination of a paraganglioma and a gastrointestinal stromal tumor. This is recognized as unique from the more commonly known Carney Triad, which in addition to the above also has a pulmonary chondroma present. We present a case of Carney-Stratakis Syndrome which highlights the value of multimodality imaging in arriving at the diagnosis, as well as the role of genetic testing for definitively differentiating it from the more commonly recognized Carney Triad.
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Bailey et al. (2020) conducted a case report in Carney-Stratakis Syndrome (n=1). Multimodality imaging and genetic testing was evaluated. Multimodality imaging and genetic testing successfully diagnosed Carney-Stratakis Syndrome and differentiated it from Carney Triad in a patient with an occult mediastinal paraganglioma.
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