Carney-Stratakis syndrome: A dyad of familial paraganglioma and gastrointestinal stromal tumor

Hannah S. Recht, Elliot K. Fishman

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2071-2075
Number of pages5
JournalRadiology Case Reports
Volume15
Issue number11
DOIs
StatePublished - Nov 2020

Keywords

  • Carney-Stratakis syndrome
  • Gastrointestinal stromal tumor
  • Paraganglioma

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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