Carney’s triad: difficulties in the diagnosis

Abstract

Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromatic tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest of the cell origin), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. Carney's triad primarily affects young women (it means the age of early 20-s). Most patients initially have two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas (well-differentiated benign cartilaginous tumors) occur in approximately 80% of cases. They are often asymptomatic and may be unilateral (83%) or bilateral (32%). Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The etiology is not completely understood.A case of Carney triad, which caused some difficulty and complexity of the diagnosis at the initial stage of case management.Due to the complex of diagnostic search, errors in the definitive diagnosis of the Triad Carney were found in almost all clinical cases, which are associated with diverse clinical diagnosis and complexities of individual nosology: gamartohondromy lung or gastrointestinal stromal tumor, or extraadrenal paraganglioma, and their combination in one patient in complete or incomplete.Thus, in this case, a combination of lung hamartomas and neuroendocrine tumor of the duodenum - gastrointestinal stromal tumor gives rise to diagnosis.