Sporadic Carney complex without PRKAR1A mutation in a young patient with ischemic stroke

J Stroke Cerebrovasc Dis. 2015 Mar;24(3):e79-81. doi: 10.1016/j.jstrokecerebrovasdis.2014.11.001. Epub 2015 Jan 6.

Abstract

We describe a 29-year-old male, with a previous history of testicular tumor, who presented with a posterior circulation ischemic stroke associated to an atrial myxoma. Dermatologic observation disclosed spotty skin and mucosal pigmentation (lentigines), and a cutaneous myxoma was histopathologically confirmed. Although there was no family history of any of the Carney complex (CNC) features and no mutations in the PRKAR1A gene were found, these findings lead to the diagnosis of CNC. We emphasize the importance of recognizing this entity in young patients with stroke.

Keywords: Carney complex; Ischemic stroke; PRKAR1A gene; cardiac myxoma; young adult.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Ischemia / diagnosis
  • Brain Ischemia / enzymology
  • Brain Ischemia / genetics*
  • Carney Complex / complications
  • Carney Complex / diagnosis
  • Carney Complex / enzymology
  • Carney Complex / genetics*
  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics*
  • DNA Mutational Analysis
  • Diffusion Magnetic Resonance Imaging
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Predictive Value of Tests
  • Risk Factors
  • Stroke / diagnosis
  • Stroke / enzymology*
  • Stroke / genetics

Substances

  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
  • PRKAR1A protein, human