title: Sporadic Carney complex without PRKAR1A mutation in a young patient with ischemic stroke.
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.
authors.affiliation: Stroke Unit, Department of Neurology, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal. Electronic address: diana3543@hotmail.com.
authors.forename: Diana
authors.initials: D
authors.lastname: Aguiar de Sousa
authors.affiliation: Department of Dermatology, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.
authors.forename: Ana Isabel
authors.initials: AI
authors.lastname: Gouveia
authors.affiliation: Department of Endocrinology, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Wessling
authors.affiliation: Stroke Unit, Department of Neurology, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.
authors.forename: Ruth
authors.initials: R
authors.lastname: Geraldes
authors.affiliation: Stroke Unit, Department of Neurology, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal; Clinical Neurology Research Unit (UNIC), Institute of Molecular Medicine, Lisbon, Portugal.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Canhão
mesh_terms: D000328:Adult; D002545:Brain Ischemia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D056733:Carney Complex / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D038524:Diffusion Magnetic Resonance Imaging; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D020521:Stroke / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human
keywords: Carney complex; Ischemic stroke; PRKAR1A gene; cardiac myxoma; young adult