Sporadic Carney complex without PRKAR1A mutation in a young patient with ischemic stroke
Diana Aguiar de Sousa1, Ana Isabel Gouveia2, Ana Wessling3
1Stroke Unit, Department of Neurology, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.
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.
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