Abstract

Bernard Soulier syndrome (BSS) is a rare inherited platelet disorder with a prevalence of one in a million people. It is estimated that it is the seventh most common syndrome in this family of pathologies and mainly affects the pediatric population or is diagnosed in the early ages. It is caused by genetic abnormalities in the function of the GPIb-V-IX complex, which is necessary for binding von Willebrand to factor IX. A male patient of 2 days old is presented, referred for thrombocytopenia, documented at 5,000/uL for a consultation by hematology. The mother reported bloody stools as the only finding, without any evidence of bleeding on the skin. During the evaluation, thrombocytopenia was confirmed and when performing a platelet smear, macroplatelets were detected, which raised the suspicion of Bernard Soulier syndrome. Platelet cytometry was requested, which reported that the patient’s platelets did not express GP1B (CD 42b) and expressed CD411 (GPIIB), CD 36 (GPIIIB) and CD61 (GPIIIA), compatible with Bernard Soulier pathology. With this information, this diagnosis was established at the age of 5 months.

Key Words: Pediatrics; Blood Coagulation Disorders; Thrombocytopenia; Hemorrhage