Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome

Montserrat Ayala-Ramirez, Glenda G. Callender, Michael E. Kupferman, Thereasa A. Rich, Hubert H. Chuang, Jonathan Trent, Nancy D. Perrier, Mahmoud Goodarzi, Camilo Jimenez

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Background. A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. He had no family history of carotid body tumors or pheochromocytoma. Investigations. Measurements of plasma free metanephrines and chromogranin A; radiographic evaluations with CT, 18F-fluorodeoxyglucose PET and 123I-labeled metaiodobenzylguanidine scan; gene analysis for mutations in the SDHD and the KIT gene. Diagnosis. Paraganglioma syndrome type 1 in a patient with a paraganglioma, bilateral pheochromocytomas and a gastrointestinal stromal tumor with a somatic Asp579del KIT mutation. Management. The patient underwent surgical excision of all tumors after adequate preparation with alpha and beta blockers. Blood pressure normalized after surgery. The patient is examined regularly with biochemical and radiographic studies, and his follow-up is expected to last throughout life.

Original languageEnglish (US)
Pages (from-to)110-115
Number of pages6
JournalNature Reviews Endocrinology
Issue number2
StatePublished - Feb 2010

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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