Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause

Blood Coagul Fibrinolysis. 2012 Jan;23(1):75-7. doi: 10.1097/MBC.0b013e32834d0c81.

Abstract

Scott syndrome is a rare bleeding disorder due to an impaired exposure of phosphatidilserine on the platelet membrane, compromising the platelet procoagulant activity, thrombin generation and, thus, the clot formation. We report a case of a 17-year-old female adolescent with bleeding episodes of unknown cause. She had normal coagulation, but altered platelet aggregation under arteriolar flow, indicating platelet dysfunction. Furthermore, the expression of Annexin V was markedly reduced and the diagnosis of Scott syndrome was established. She was treated with platelet transfusions and demonstrated a clinical improvement. Scott syndrome may be investigated in cases with bleeding history and normal coagulation tests.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Blood Coagulation Disorders / blood*
  • Blood Coagulation Disorders / diagnosis*
  • Blood Coagulation Disorders / genetics
  • Blood Coagulation Disorders / therapy
  • Blood Coagulation Tests / methods*
  • Blood Platelets / metabolism*
  • Female
  • Humans
  • Syndrome