Overview Snapshot A 4-week-old boy is brought to the pediatrician to undergo a circumcision. The bleeding has not subsided even though the procedure was uncomplicated. Complete blood count is significant for a platelet count of 65,000/mm3. Peripheral blood smear giant platelets. Platelet aggregation studies show no response to ristocetin. This was not corrected with the addition of normal plasma. With the addition of ADP, normal aggregation was observed. Introduction Autosomal recessive platelet disorder login to view 1 more bullet Epidemiology Very rare Affects men and women equally Presentation Symptoms login to view 4 more bullets STUDIES Complete blood cell count login to view 1 more bullet Peripheral smear login to view 1 more bullet Bleeding time login to view 1 more bullet PT and PTT login to view 1 more bullet Platelet aggregation studies login to view 6 more bullets Differential Glanzmann thrombasthenia Idiopathic thrombocytopenic purpura (ITP) von Willebrand disease Treatment Supportive login to view 1 more bullet Surgery of life-threatening bleed login to view 1 more bullet PROGNOSIS Varying bleeding severity throughout life