Ma. Yesilipek et al., BERNARD-SOULIER SYNDROME - A FLOW CYTOMETRIC ANALYSIS OF MEMBRANE GP-IB EXPRESSION, Turkish Journal of Pediatrics, 38(3), 1996, pp. 375-379
A case of Bernard-Soulier syndrome In a five-year-old female is presen
ted. The diagnosis was confirmed by flow cytometric analysis of glycop
rotein Ib (CD 42b) in addition to the patient's classic laboratory fin
dings such as prolonged bleeding time, mild thrombocytopenia, large pl
atelets and failure of platelet aggregation with ristocetin. Her paren
ts and sibling had normal coagulation tests and CD 42b levels. It is e
mphasized that flow cytometric analysis is useful in the confirmation
of congenital platelet function defects.