Background: Type 2B von Willebrand disease (VWD) is a hereditary bleeding disorder caused by changes in the von Willebrand factor (VWF), which increases the binding of VWF to platelets. Type 2B VWD may present with thrombocytopenia.
Case Report: A four-day-old newborn was brought to the neonatal intensive care unit presenting with bleeding and severe thrombocytopenia. The platelet level was 10,000/mm3, and coagulation tests were normal. There were no clinical evidence of sepsis; therefore, alloimmune or autoimmune thrombocytopenia was suspected. When we found out that her mother and relatives had intermittent thrombocytopenia, advanced tests were performed. Ristocetin cofactor activity was low; type 2 VWD was considered. Using low-dose ristocetin, we increased platelet aggregation. Heterozygous c.3946G > A (p.Val1316Met) mutation was detected, and type 2B VWD was diagnosed.
Conclusion: Type 2B VWD may cause a diagnostic problem in the differential diagnosis of neonatal thrombocytopenia including neonatal autoimmune thrombocytopenia.