Molecular and Genetic Medicine

Division of Medical Genetics, Department of Medical Sciences, University of Turin, Turin, Italy

Publications

• Case Report   
  Unusual and Challenging Presentation of Hereditary Pheochromocytoma: Physicians Should Not Be Fooled - A Case Report
  Author(s): Parasiliti-Caprino M*, Matta M, Lopez C, Barbero U, Maletta F, Frea S, Giraudo G, Benso A, Pasini B, Ghigo E and Maccario M
  
  We present the case of a 45-year-old woman admitted to our hospital with acute heart failure and cardiogenic shock requiring stabilization with an intra-aortic balloon pump, inotropes and vasopressors. Nevertheless, the patient developed a multi organ failure. Firstly, diagnosed as an acute myocarditis, bilateral pheochromocytoma was discovered with MRI scan and confirmed with urine and plasma metanephrines. Bilateral adrenalectomy was performed. The genetic testing revealed a mutation in the Neurofibromatosis type 1 gene. Given the life-threatening complications and the good prognosis after radical surgery, the diagnosis of pheochromocytoma should be quickly considered in patients presenting with unexplained cardiovascular compromise... Read More»
  

  Abstract HTML PDF