Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause.
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.
Hematology and Hemotherapy Center, State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil. flores_mariane@yahoo.com.br
Mariane C
MC
Flores-Nascimento
Fernanda L A
FL
Orsi
Ana P
AP
Yokoyama
Fernanda G
FG
Pereira
Irene
I
Lorand-Metze
Erich V
EV
De Paula
Vagner
V
Castro
Joyce M
JM
Annichino-Bizzacchi
D000293:Adolescent; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D001780:Blood Coagulation Tests / Q000379:methods*; D001792:Blood Platelets / Q000378:metabolism*; D005260:Female; D006801:Humans; D013577:Syndrome