Carney-Stratakis, syndrome

[MIM 606 864]

(Carney diad,  GIST-paraganglioma diad)

Very rare. Autosomal dominant transmission, with  variable penetrance, of a mutation of the SDHB, SDHC or SDHD gene coding for  parts of succinate dehydrogenase. Onset in adolescence or early adulthood. 

Association of:

-         gastrointestinal multifocal stromal tumors (GIST acronym for Gastro Intestinal Stromal Tumors) : intramural mesenchymal tumors of the gastrointestinal tract, derived from Cajal cells which are responsible for peristalsis. Often indolent, the first sign may be: upper gastrointestinal bleeding, pain, anemia, dysphagia, occlusion or an abdominal mass.

-         extra-adrenal paragangliomas, frequently mediastinal.  They are benign and generally not secreting.

Treatment of GIST and the paragangliomas: surgical resection, embolization, sometimes radiotherapy. Adjuvant medical treatment by imatinib mesylate is being evaluated.

Anesthetic implications: 

check for anemia; chest XRay to find a paraganglioma.

References : 

Updated: November 2019