VEYSEL GÖK, ESRA IŞIK, EBRU YILMAZ, FİRDEVS AYDIN, ALPER ÖZCAN, EKREM ÜNAL, MUSA KARAKÜKÇÜ, TAHİR ATİK, TÜRKAN PATIROĞLU
Journal of Clinical Practice and Research - 2021;43(2):201-203
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.
